Variant report

Variant	esv1827123
Chromosome Location	chr1:113496841-113531848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1277)
CpG islands
(count:1285)
Chromatin interactive
region (count:60)
LncRNA
region (count:43)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1277 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:113497702-113497942	K562	blood:	n/a	n/a
2	ARID3A	chr1:113500035-113500461	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:113498451-113499126	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:113498773-113499141	K562	blood:	n/a	n/a
5	ATF1	chr1:113526149-113526164	K562	blood:	n/a	n/a
6	ATF2	chr1:113498547-113499339	GM12878	blood:	n/a	n/a
7	ATF2	chr1:113497718-113498862	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr1:113499692-113500485	GM12878	blood:	n/a	n/a
9	ATF2	chr1:113499848-113500311	GM12878	blood:	n/a	n/a
10	ATF3	chr1:113498895-113499084	GM12878	blood:	n/a	chr1:113498963-113498972
11	ATF3	chr1:113498525-113498884	A549	lung:	n/a	chr1:113498847-113498855
12	ATF3	chr1:113498636-113499178	K562	blood:	n/a	chr1:113498847-113498855 chr1:113498963-113498972
13	ATF3	chr1:113498789-113499232	GM12878	blood:	n/a	chr1:113498847-113498855 chr1:113498963-113498972
14	ATF3	chr1:113498807-113499152	HepG2	liver:	n/a	chr1:113498847-113498855 chr1:113498963-113498972
15	BACH1	chr1:113498446-113498868	K562	blood:	n/a	n/a
16	BACH1	chr1:113497955-113499282	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:113497832-113498199	K562	blood:	n/a	n/a
18	BACH1	chr1:113499950-113500252	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr1:113527722-113528028	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:113497718-113498370	GM12878	blood:	n/a	chr1:113498355-113498364
21	BCLAF1	chr1:113499596-113500065	GM12878	blood:	n/a	n/a
22	BCLAF1	chr1:113498425-113499404	GM12878	blood:	n/a	chr1:113498428-113498441 chr1:113498893-113498906 chr1:113498898-113498907
23	BCLAF1	chr1:113498317-113499257	K562	blood:	n/a	chr1:113498428-113498441 chr1:113498893-113498906 chr1:113498355-113498364 chr1:113498898-113498907
24	BCLAF1	chr1:113498327-113499285	K562	blood:	n/a	chr1:113498428-113498441 chr1:113498893-113498906 chr1:113498355-113498364 chr1:113498898-113498907
25	BHLHE40	chr1:113499964-113500549	K562	blood:	n/a	n/a
26	BHLHE40	chr1:113497739-113499385	K562	blood:	n/a	chr1:113497989-113498005
27	BHLHE40	chr1:113498682-113499174	HepG2	liver:	n/a	n/a
28	BHLHE40	chr1:113498440-113499398	HepG2	liver:	n/a	n/a
29	BHLHE40	chr1:113526430-113526762	GM12878	blood:	n/a	n/a
30	BHLHE40	chr1:113497817-113499345	GM12878	blood:	n/a	chr1:113497989-113498005
31	BHLHE40	chr1:113498619-113499148	A549	lung:	n/a	n/a
32	BRCA1	chr1:113499884-113500341	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr1:113499064-113499264	GM12878	blood:	n/a	n/a
34	BRCA1	chr1:113499982-113500361	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr1:113497685-113499281	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr1:113498790-113499255	HepG2	liver:	n/a	n/a
37	CBX3	chr1:113497783-113499370	K562	blood:	n/a	n/a
38	CBX3	chr1:113497958-113499232	K562	blood:	n/a	n/a
39	CCNT2	chr1:113497912-113499266	K562	blood:	n/a	n/a
40	CEBPB	chr1:113517965-113518931	IMR90	lung:	n/a	chr1:113518850-113518863 chr1:113518852-113518863 chr1:113518447-113518460
41	CEBPB	chr1:113498482-113498960	HepG2	liver:	n/a	n/a
42	CEBPB	chr1:113499713-113500506	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:113503080-113503433	Hela-S3	cervix:	n/a	chr1:113503222-113503233 chr1:113503221-113503234
44	CEBPB	chr1:113497246-113497676	K562	blood:	n/a	n/a
45	CEBPB	chr1:113498463-113498931	K562	blood:	n/a	n/a
46	CEBPB	chr1:113499884-113500266	HepG2	liver:	n/a	n/a
47	CEBPB	chr1:113498435-113499140	K562	blood:	n/a	n/a
48	CEBPB	chr1:113531066-113531164	K562	blood:	n/a	chr1:113531100-113531111 chr1:113531099-113531112
49	CEBPB	chr1:113503046-113503390	HepG2	liver:	n/a	chr1:113503222-113503233 chr1:113503221-113503234
50	CEBPB	chr1:113530965-113531279	HepG2	liver:	n/a	chr1:113531100-113531111 chr1:113531099-113531112

(count:1285 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113499526-113499576	T-47D	breast:	n/a
2	chr1:113498174-113498224	HEEpiC	esophagus:	n/a
3	chr1:113499528-113499578	HCT-116	colon:	n/a
4	chr1:113498799-113498849	GM12892	blood:	n/a
5	chr1:113499526-113499576	T-47D	breast:	n/a
6	chr1:113498174-113498224	HEEpiC	esophagus:	n/a
7	chr1:113499528-113499578	HCT-116	colon:	n/a
8	chr1:113498799-113498849	GM12892	blood:	n/a
9	chr1:113499526-113499576	HRPEpiC	eye:	n/a
10	chr1:113499045-113499095	HCF	heart:	n/a
11	chr1:113497999-113498049	GM12892	blood:	n/a
12	chr1:113499849-113499899	LNCaP	prostate:	n/a
13	chr1:113498382-113498432	A549	lung:	n/a
14	chr1:113498106-113498156	CMK	blood:	n/a
15	chr1:113498193-113498243	ProgFib	skin:	n/a
16	chr1:113500384-113500434	ovcar-3	ovarian:	n/a
17	chr1:113502677-113502727	GM19239	blood:	n/a
18	chr1:113499528-113499578	ProgFib	skin:	n/a
19	chr1:113498438-113498488	HepG2	liver:	n/a
20	chr1:113500384-113500434	ProgFib	skin:	n/a
21	chr1:113499149-113499199	HCPEpiC	choroid plexus:	n/a
22	chr1:113497999-113498049	AG04450	lung:	fetal
23	chr1:113498438-113498488	SK-N-SH_RA	brain:	n/a
24	chr1:113502677-113502727	HCPEpiC	choroid plexus:	n/a
25	chr1:113498742-113498792	PANC-1	pancreas:	n/a
26	chr1:113498174-113498224	HEK293	kidney:	embryo
27	chr1:113499849-113499899	HNPCEpiC	eye:	n/a
28	chr1:113500384-113500434	GM12878	blood:	n/a
29	chr1:113498174-113498224	U87	brain:	n/a
30	chr1:113499045-113499095	RPTEC	kidney:	n/a
31	chr1:113497999-113498049	HEEpiC	esophagus:	n/a
32	chr1:113500384-113500434	HIPEpiC	eye:	n/a
33	chr1:113500329-113500379	CMK	blood:	n/a
34	chr1:113500329-113500379	SK-N-SH	brain:	n/a
35	chr1:113499849-113499899	T-47D	breast:	n/a
36	chr1:113499731-113499781	SK-N-MC	brain:	n/a
37	chr1:113500384-113500434	NH-A	brain:	n/a
38	chr1:113500329-113500379	IMR90	lung:	fetal
39	chr1:113499849-113499899	HCM	heart:	n/a
40	chr1:113500329-113500379	MCF10A-Er-Src	breast:	n/a
41	chr1:113500329-113500379	ProgFib	skin:	n/a
42	chr1:113498193-113498243	NH-A	brain:	n/a
43	chr1:113498742-113498792	HNPCEpiC	eye:	n/a
44	chr1:113502677-113502727	HRCEpiC	kidney:	n/a
45	chr1:113500329-113500379	HRPEpiC	eye:	n/a
46	chr1:113497932-113497982	HCPEpiC	choroid plexus:	n/a
47	chr1:113498174-113498224	HCPEpiC	choroid plexus:	n/a
48	chr1:113498174-113498224	GM06990	blood:	n/a
49	chr1:113499045-113499095	SKMC	muscle:	n/a
50	chr1:113498761-113498811	AoSMC	blood vessel:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:113498636..113499311-chr16:69165413..69166054,2	NB4	blood:
2	chr1:113515819..113517504-chr1:113519594..113521333,2	K562	blood:
3	chr1:113497031..113498756-chr1:113528559..113531199,2	K562	blood:
4	chr1:113496448..113502035-chr1:113518041..113521065,6	K562	blood:
5	chr1:113496225..113498697-chr7:153107803..153110252,2	K562	blood:
6	chr1:113498539..113500534-chr1:113523164..113526925,5	K562	blood:
7	chr1:113497702..113502988-chr1:113515106..113520670,10	K562	blood:
8	chr1:113459369..113469193-chr1:113493855..113500263,12	K562	blood:
9	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
10	chr1:113497995..113498938-chr17:16118772..16119540,2	Hela-S3	cervix:
11	chr1:113496138..113497721-chr1:113563292..113564960,2	MCF-7	breast:
12	chr1:113498729..113499273-chr5:473053..473599,2	NB4	blood:
13	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
14	chr1:113476800..113479671-chr1:113497569..113500244,3	MCF-7	breast:
15	chr1:113498943..113499617-chr17:73775476..73776075,2	Hela-S3	cervix:
16	chr1:113513357..113514885-chr1:113518512..113520310,2	K562	blood:
17	chr1:113498106..113498620-chr12:107168146..107168781,2	Hela-S3	cervix:
18	chr1:113453403..113455887-chr1:113526487..113529032,2	MCF-7	breast:
19	chr1:113495708..113498262-chr1:114506476..114508244,2	K562	blood:
20	chr1:113514230..113516551-chr1:113524228..113525936,2	K562	blood:
21	chr1:113495642..113498034-chr1:114469610..114473117,3	K562	blood:
22	chr1:113498335..113498911-chr1:151881490..151882169,2	HCT-116	colon:
23	chr1:43423856..43424635-chr1:113498800..113499582,2	Hela-S3	cervix:
24	chr1:113498112..113499030-chr12:48298484..48299211,2	NB4	blood:
25	chr1:113518304..113519883-chr1:113525228..113527373,2	K562	blood:
26	chr1:113250102..113252042-chr1:113500329..113503036,2	K562	blood:
27	chr1:113498236..113500475-chr17:56707428..56710139,3	MCF-7	breast:
28	chr1:113498314..113498964-chr5:141015941..141016680,2	Hela-S3	cervix:
29	chr1:113498117..113498935-chr12:56510333..56510930,2	Hela-S3	cervix:
30	chr1:113498549..113499138-chr3:150320502..150321114,2	Hela-S3	cervix:
31	chr1:113499016..113499759-chr22:19419436..19420248,2	Hela-S3	cervix:
32	chr1:113513357..113514885-chr1:113518512..113520310,2	K562	blood:
33	chr1:113498893..113503922-chr1:113525106..113529240,4	K562	blood:
34	chr1:113497812..113498730-chr1:147806234..147807208,3	Hela-S3	cervix:
35	chr1:113417890..113419473-chr1:113495009..113497982,2	K562	blood:
36	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:
37	chr1:113498604..113499279-chr3:40350913..40351625,2	Hela-S3	cervix:
38	chr1:113511237..113513302-chr1:113530269..113532997,2	K562	blood:
39	chr1:113498279..113499102-chr5:43557001..43557719,2	Hela-S3	cervix:
40	chr1:113161304..113162931-chr1:113498706..113500285,2	K562	blood:
41	chr1:113496701..113499764-chr1:113507961..113512647,6	K562	blood:
42	chr1:113498276..113498968-chr19:16653289..16653978,2	Hela-S3	cervix:
43	chr1:113514230..113516551-chr1:113524228..113525936,2	K562	blood:
44	chr1:113495044..113497639-chr1:113562401..113565157,2	K562	blood:
45	chr1:113500281..113502196-chr1:113505336..113508052,2	K562	blood:
46	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
47	chr1:113511237..113513302-chr1:113530269..113532997,2	K562	blood:
48	chr1:113423471..113424047-chr1:113496482..113497380,2	MCF-7	breast:
49	chr1:113513681..113515239-chr1:113517369..113521086,3	MCF-7	breast:
50	chr1:113513681..113515239-chr1:113517369..113521086,3	MCF-7	breast:

(count:43 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRIG2-4	chr1:113499142-113499578	ENSG00000226419
2	lnc-LRIG2-3	chr1:113516350-113516476	NONHSAT005306
3	lnc-LRIG2-3	chr1:113503099-113503199	NONHSAT005306
4	lnc-LRIG2-3	chr1:113503099-113503223	NONHSAT005303
5	lnc-LRIG2-3	chr1:113514969-113515328	NONHSAT005306
6	lnc-LRIG2-3	chr1:113503099-113503197	NONHSAT005304
7	lnc-LRIG2-3	chr1:113499232-113499578	NONHSAT005304
8	lnc-LRIG2-3	chr1:113510657-113511080	NONHSAT005306
9	lnc-LRIG2-3	chr1:113499037-113499578	NONHSAT005299
10	lnc-SLC16A1-3	chr1:113523380-113524097	NONHSAT005307
11	lnc-LRIG2-4	chr1:113506594-113506694	ENSG00000226419
12	lnc-LRIG2-3	chr1:113517122-113517568	NONHSAT005306
13	lnc-LRIG2-3	chr1:113499051-113499578	ENSG00000226419.2
14	lnc-LRIG2-3	chr1:113511213-113511579	NONHSAT005306
15	lnc-LRIG2-3	chr1:113506594-113506690	NR_103744
16	lnc-LRIG2-4	chr1:113510657-113511609	ENSG00000226419
17	lnc-LRIG2-3	chr1:113503099-113503197	NONHSAT005297
18	lnc-LRIG2-3	chr1:113518766-113519009	NONHSAT005306
19	lnc-LRIG2-3	chr1:113499037-113500344	NONHSAT005297
20	lnc-LRIG2-3	chr1:113499037-113499578	NR_103744
21	lnc-LRIG2-3	chr1:113503099-113503197	ENSG00000226419.2
22	lnc-LRIG2-4	chr1:113503099-113503197	ENSG00000226419
23	lnc-LRIG2-4	chr1:113499037-113499578	ENSG00000226419
24	lnc-LRIG2-3	chr1:113513697-113513716	NONHSAT005306
25	lnc-LRIG2-3	chr1:113503099-113503197	NONHSAT005305
26	lnc-LRIG2-3	chr1:113506594-113506688	NONHSAT005299
27	lnc-LRIG2-3	chr1:113504524-113504791	ENSG00000250717
28	lnc-LRIG2-3	chr1:113503099-113503197	NR_103744
29	lnc-LRIG2-3	chr1:113512083-113513669	NONHSAT005306
30	lnc-LRIG2-3	chr1:113517728-113517781	NONHSAT005304
31	lnc-LRIG2-4	chr1:113503099-113503197	ENSG00000226419
32	lnc-LRIG2-3	chr1:113516838-113517910	ENSG00000250717
33	lnc-LRIG2-3	chr1:113500103-113500344	NONHSAT005306
34	lnc-LRIG2-4	chr1:113510657-113511020	ENSG00000226419
35	lnc-LRIG2-3	chr1:113515497-113516308	NONHSAT005306
36	lnc-LRIG2-3	chr1:113499972-113500344	NONHSAT005305
37	lnc-LRIG2-3	chr1:113499185-113499578	NONHSAT005303
38	lnc-LRIG2-4	chr1:113499051-113499578	ENSG00000226419
39	lnc-LRIG2-3	chr1:113517032-113517116	NONHSAT005306
40	lnc-LRIG2-4	chr1:113499083-113500344	ENSG00000226419
41	lnc-LRIG2-4	chr1:113503099-113503197	ENSG00000226419
42	lnc-LRIG2-3	chr1:113506594-113506690	NONHSAT005297
43	lnc-LRIG2-4	chr1:113503099-113503197	ENSG00000226419

No data

Variant related genes	Relation type
SLC16A1	TF binding region
SLC16A1-AS1	TF binding region
SLC16A1	CpG island
SLC16A1-AS1	CpG island
ENSG00000132475	chromatin interactions
ENSG00000198799	chromatin interactions
ENSG00000114784	chromatin interactions
ENSG00000227627	chromatin interactions
ENSG00000164620	chromatin interactions
ENSG00000234722	chromatin interactions
ENSG00000111424	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000225138	chromatin interactions
ENSG00000188242	chromatin interactions
ENSG00000238198	chromatin interactions
ENSG00000226419	chromatin interactions
ENSG00000111785	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000227184	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000231128	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000168802	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000141027	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000172239	chromatin interactions
ENSG00000117394	chromatin interactions
ENSG00000171720	chromatin interactions
ENSG00000229020	chromatin interactions
ENSG00000257545	chromatin interactions
ENSG00000112029	chromatin interactions
ENSG00000185608	chromatin interactions
ENSG00000085872	chromatin interactions
ENSG00000155363	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000081019	chromatin interactions
ENSG00000007341	chromatin interactions
ENSG00000116489	chromatin interactions
SLC19A3	miRNA target sites
SMARCC1	miRNA target sites

Extended variants
information (count: 1228 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1228 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568242702	chr1:113496852-113496853	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs534129771	chr1:113496893-113496894	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs563806716	chr1:113496905-113496906	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs576349108	chr1:113496944-113496945	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs543476167	chr1:113496995-113496996	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs539048058	chr1:113496999-113497000	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs555797163	chr1:113497030-113497031	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs75876968	chr1:113497038-113497039	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs544459870	chr1:113497057-113497058	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs185411933	chr1:113497122-113497123	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs574951611	chr1:113497151-113497152	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs190610258	chr1:113497216-113497217	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs115214246	chr1:113497267-113497268	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs528934372	chr1:113497315-113497316	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs573807948	chr1:113497377-113497378	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs182878453	chr1:113497433-113497434	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs145916081	chr1:113497440-113497441	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs562967747	chr1:113497550-113497551	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs113724983	chr1:113497568-113497569	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs562106713	chr1:113497578-113497579	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs531860825	chr1:113497581-113497582	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs545188199	chr1:113497605-113497606	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs12031658	chr1:113497629-113497630	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533089370	chr1:113497665-113497666	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs138937421	chr1:113497696-113497697	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs141389062	chr1:113497726-113497727	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs564279184	chr1:113497755-113497756	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs551262547	chr1:113497757-113497758	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs547240941	chr1:113497770-113497771	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs76416071	chr1:113497802-113497803	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs147009502	chr1:113497871-113497872	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs377206384	chr1:113497872-113497873	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs576043192	chr1:113497889-113497890	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs370040391	chr1:113497890-113497891	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs535502749	chr1:113497968-113497969	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs555194668	chr1:113497975-113497976	Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs574931661	chr1:113498054-113498055	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs41283086	chr1:113498070-113498071	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs560759861	chr1:113498111-113498112	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs369743849	chr1:113498149-113498150	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs577658514	chr1:113498178-113498179	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs546198535	chr1:113498183-113498184	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs562904223	chr1:113498266-113498267	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
44	rs186576176	chr1:113498272-113498273	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
45	rs386634738	chr1:113498283-113498284	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs199701822	chr1:113498284-113498285	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs527439108	chr1:113498301-113498302	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs149558887	chr1:113498316-113498317	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs570409110	chr1:113498344-113498345	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
50	rs533093707	chr1:113498347-113498348	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1271 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113467000-113497400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:113469800-113497000	Weak transcription	Fetal Stomach	stomach
3	chr1:113481400-113497000	Weak transcription	Osteobl	bone
4	chr1:113492600-113498000	Weak transcription	Pancreas	Pancrea
5	chr1:113493400-113497800	Weak transcription	Esophagus	oesophagus
6	chr1:113493800-113497000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
7	chr1:113494000-113497000	Transcr. at gene 5' and 3'	K562	blood
8	chr1:113494000-113497600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
9	chr1:113494000-113497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:113494000-113497800	Weak transcription	Small Intestine	intestine
11	chr1:113494200-113497800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr1:113494600-113497200	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
13	chr1:113495000-113497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:113495000-113497800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:113495200-113501400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:113495400-113497000	Enhancers	Liver	Liver
17	chr1:113495400-113497000	Flanking Active TSS	Hela-S3	cervix
18	chr1:113495400-113497200	Transcr. at gene 5' and 3'	NHEK	skin
19	chr1:113495600-113497600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:113495800-113497000	Weak transcription	Ovary	ovary
21	chr1:113495800-113497200	Active TSS	Colon Smooth Muscle	Colon
22	chr1:113495800-113500200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:113495800-113500600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr1:113495800-113500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:113495800-113500800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:113495800-113501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr1:113496000-113497000	Enhancers	Stomach Mucosa	stomach
28	chr1:113496000-113497200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:113496000-113497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:113496000-113497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:113496000-113497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:113496000-113501000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:113496200-113497200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr1:113496200-113497400	Enhancers	Brain Substantia Nigra	brain
35	chr1:113496200-113497400	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr1:113496200-113497400	Flanking Active TSS	HUVEC	blood vessel
37	chr1:113496200-113497600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr1:113496200-113497600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr1:113496200-113497600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr1:113496200-113497600	Flanking Active TSS	Fetal Heart	heart
41	chr1:113496200-113497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:113496200-113497800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:113496200-113497800	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr1:113496200-113497800	Flanking Active TSS	Dnd41	blood
45	chr1:113496200-113498000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:113496200-113500400	Active TSS	Stomach Smooth Muscle	stomach
47	chr1:113496200-113501800	Active TSS	Right Ventricle	heart
48	chr1:113496400-113497000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:113496400-113497000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:113496400-113497000	Flanking Active TSS	Brain Anterior Caudate	brain

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