Variant report

Variant	esv1842398
Chromosome Location	chr1:114331645-114471583
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3435)
CpG islands
(count:3120)
Chromatin interactive
region (count:372)
LncRNA
region (count:24)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:114378326-114378696	K562	blood:	n/a	chr1:114378456-114378472 chr1:114378457-114378473
2	ARID3A	chr1:114354852-114355672	K562	blood:	n/a	n/a
3	ARID3A	chr1:114447050-114448168	K562	blood:	n/a	n/a
4	ARID3A	chr1:114410863-114410987	K562	blood:	n/a	n/a
5	ARID3A	chr1:114416713-114417271	K562	blood:	n/a	n/a
6	ARID3A	chr1:114333773-114333862	K562	blood:	n/a	n/a
7	ARID3A	chr1:114354716-114355455	HepG2	liver:	n/a	n/a
8	ARID3A	chr1:114446359-114446634	K562	blood:	n/a	n/a
9	ARID3A	chr1:114389347-114389547	K562	blood:	n/a	n/a
10	ARID3A	chr1:114401864-114402413	K562	blood:	n/a	n/a
11	ARID3A	chr1:114456743-114457224	K562	blood:	n/a	n/a
12	ARID3A	chr1:114347331-114347919	HepG2	liver:	n/a	n/a
13	ARID3A	chr1:114378316-114378674	HepG2	liver:	n/a	chr1:114378456-114378472 chr1:114378457-114378473
14	ARID3A	chr1:114362212-114362889	K562	blood:	n/a	n/a
15	ARID3A	chr1:114351803-114353222	K562	blood:	n/a	n/a
16	ARID3A	chr1:114446866-114448094	HepG2	liver:	n/a	n/a
17	ARID3A	chr1:114471425-114472326	HepG2	liver:	n/a	n/a
18	ARID3A	chr1:114372553-114372948	K562	blood:	n/a	chr1:114372732-114372748
19	ARID3A	chr1:114346883-114347766	K562	blood:	n/a	n/a
20	ARID3A	chr1:114352474-114352807	HepG2	liver:	n/a	n/a
21	ARID3A	chr1:114363106-114363145	K562	blood:	n/a	n/a
22	ATF1	chr1:114460934-114461205	K562	blood:	n/a	n/a
23	ATF1	chr1:114417055-114417477	K562	blood:	n/a	n/a
24	ATF1	chr1:114456852-114457257	K562	blood:	n/a	n/a
25	ATF1	chr1:114347387-114347704	K562	blood:	n/a	n/a
26	ATF1	chr1:114414170-114414620	K562	blood:	n/a	n/a
27	ATF1	chr1:114354796-114355419	K562	blood:	n/a	n/a
28	ATF1	chr1:114471582-114472310	K562	blood:	n/a	n/a
29	ATF1	chr1:114447080-114448061	K562	blood:	n/a	n/a
30	ATF2	chr1:114447554-114448063	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr1:114401950-114402731	GM12878	blood:	n/a	n/a
32	ATF2	chr1:114447553-114448425	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr1:114400910-114401455	GM12878	blood:	n/a	n/a
34	ATF2	chr1:114354628-114355394	GM12878	blood:	n/a	n/a
35	ATF2	chr1:114401720-114402661	GM12878	blood:	n/a	n/a
36	ATF2	chr1:114471304-114472317	GM12878	blood:	n/a	n/a
37	ATF2	chr1:114471491-114472281	GM12878	blood:	n/a	n/a
38	ATF2	chr1:114354849-114355302	GM12878	blood:	n/a	n/a
39	ATF2	chr1:114354987-114355422	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr1:114447133-114448159	GM12878	blood:	n/a	n/a
41	ATF2	chr1:114414060-114414785	GM12878	blood:	n/a	n/a
42	ATF2	chr1:114413969-114414684	GM12878	blood:	n/a	n/a
43	ATF2	chr1:114446830-114448203	GM12878	blood:	n/a	n/a
44	ATF3	chr1:114354775-114355372	K562	blood:	n/a	n/a
45	ATF3	chr1:114347028-114347809	K562	blood:	n/a	n/a
46	ATF3	chr1:114354995-114355359	A549	lung:	n/a	n/a
47	ATF3	chr1:114354780-114355423	K562	blood:	n/a	n/a
48	ATF3	chr1:114456832-114457195	K562	blood:	n/a	n/a
49	ATF3	chr1:114447732-114448108	K562	blood:	n/a	n/a
50	BACH1	chr1:114456695-114457297	K562	blood:	n/a	n/a

(count:3120 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:114355233-114355283	Hela-S3	cervix:	n/a
2	chr1:114414042-114414092	HEEpiC	esophagus:	n/a
3	chr1:114359256-114359306	GM12878	blood:	n/a
4	chr1:114402309-114402359	NB4	blood:	n/a
5	chr1:114355622-114355672	NH-A	brain:	n/a
6	chr1:114430031-114430081	Jurkat	blood:	n/a
7	chr1:114447794-114447844	IMR90	lung:	fetal
8	chr1:114448170-114448220	GM12891	blood:	n/a
9	chr1:114375675-114375725	ProgFib	skin:	n/a
10	chr1:114355233-114355283	Hela-S3	cervix:	n/a
11	chr1:114414042-114414092	HEEpiC	esophagus:	n/a
12	chr1:114359256-114359306	GM12878	blood:	n/a
13	chr1:114402309-114402359	NB4	blood:	n/a
14	chr1:114355622-114355672	NH-A	brain:	n/a
15	chr1:114430031-114430081	Jurkat	blood:	n/a
16	chr1:114447794-114447844	IMR90	lung:	fetal
17	chr1:114448170-114448220	GM12891	blood:	n/a
18	chr1:114375675-114375725	ProgFib	skin:	n/a
19	chr1:114448170-114448220	NHBE	bronchial:	n/a
20	chr1:114448134-114448184	MCF10A-Er-Src	breast:	n/a
21	chr1:114355693-114355743	HEK293	kidney:	embryo
22	chr1:114431234-114431284	GM12892	blood:	n/a
23	chr1:114336683-114336733	HCF	heart:	n/a
24	chr1:114447579-114447629	HIPEpiC	eye:	n/a
25	chr1:114447746-114447796	HRE	kidney:	n/a
26	chr1:114447579-114447629	NB4	blood:	n/a
27	chr1:114430031-114430081	HCM	heart:	n/a
28	chr1:114447746-114447796	HEK293	kidney:	embryo
29	chr1:114447605-114447655	A549	lung:	n/a
30	chr1:114355571-114355621	GM12891	blood:	n/a
31	chr1:114355622-114355672	Hela-S3	cervix:	n/a
32	chr1:114447798-114447848	HepG2	liver:	n/a
33	chr1:114431096-114431146	PrEC	prostate:	n/a
34	chr1:114448134-114448184	Hepatocyte	liver:	n/a
35	chr1:114447746-114447796	NT2-D1	testis:	n/a
36	chr1:114354442-114354492	HCPEpiC	choroid plexus:	n/a
37	chr1:114447746-114447796	GM06990	blood:	n/a
38	chr1:114430031-114430081	HCF	heart:	n/a
39	chr1:114447579-114447629	ECC-1	luminal epithelium:	n/a
40	chr1:114423726-114423776	PrEC	prostate:	n/a
41	chr1:114448489-114448539	A549	lung:	n/a
42	chr1:114447798-114447848	HIPEpiC	eye:	n/a
43	chr1:114447579-114447629	HL-60	blood:	n/a
44	chr1:114414802-114414852	Hepatocyte	liver:	n/a
45	chr1:114430280-114430330	HepG2	liver:	n/a
46	chr1:114414802-114414852	NH-A	brain:	n/a
47	chr1:114449926-114449976	Jurkat	blood:	n/a
48	chr1:114351107-114351157	HMEC	breast:	n/a
49	chr1:114447516-114447566	Caco-2	colon:	n/a
50	chr1:114414042-114414092	HNPCEpiC	eye:	n/a

(count:372 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr1:114447178..114448996-chr1:114471115..114472973,22	MCF-7	breast:
2	chr1:114355388..114357154-chr1:114463628..114466321,2	MCF-7	breast:
3	chr1:114415525..114417374-chr1:114419070..114421891,2	K562	blood:
4	chr1:114377703..114378629-chr1:114491506..114492742,4	MCF-7	breast:
5	chr1:114391462..114393060-chr1:114393334..114395012,2	MCF-7	breast:
6	chr1:114403069..114405298-chr1:114414916..114416570,2	MCF-7	breast:
7	chr1:114378206..114378898-chr1:114505774..114506584,4	MCF-7	breast:
8	chr1:113257309..113258998-chr1:114446539..114449479,2	K562	blood:
9	chr1:114406164..114408121-chr1:114408886..114411206,2	K562	blood:
10	chr1:114361991..114364301-chr1:114365231..114367809,3	MCF-7	breast:
11	chr1:114445068..114448942-chr1:115050232..115055017,4	MCF-7	breast:
12	chr1:114375425..114378067-chr1:114378489..114380651,2	K562	blood:
13	chr1:114446781..114449209-chr1:114451008..114452927,3	K562	blood:
14	chr1:114447360..114448137-chr3:50126334..50127160,2	NB4	blood:
15	chr1:114408080..114410275-chr1:114410974..114412985,2	MCF-7	breast:
16	chr1:114403524..114405681-chr1:114408322..114410310,2	MCF-7	breast:
17	chr1:114446008..114448199-chr1:114495493..114497584,2	MCF-7	breast:
18	chr1:114353086..114356383-chr1:114467552..114475359,15	MCF-7	breast:
19	chr1:114352306..114358140-chr1:114445806..114450844,18	MCF-7	breast:
20	chr1:114422800..114426038-chr1:114435058..114437356,3	MCF-7	breast:
21	chr1:114427663..114429452-chr1:114470487..114472765,2	K562	blood:
22	chr1:114337375..114338962-chr1:114346569..114348868,2	K562	blood:
23	chr1:114378112..114378971-chr1:114447460..114448333,7	MCF-7	breast:
24	chr1:114353683..114357770-chr1:114446246..114449576,8	K562	blood:
25	chr1:114437436..114439941-chr1:114469185..114470816,2	MCF-7	breast:
26	chr1:114300393..114302237-chr1:114446494..114449478,3	K562	blood:
27	chr1:114470673..114473075-chr16:450178..453136,2	MCF-7	breast:
28	chr1:114373171..114375112-chr1:114450581..114453356,2	K562	blood:
29	chr1:114306094..114308491-chr1:114345999..114348043,2	K562	blood:
30	chr1:114350122..114352363-chr1:114460865..114462915,2	MCF-7	breast:
31	chr1:114429070..114435293-chr1:114435414..114441720,10	MCF-7	breast:
32	chr1:114455126..114458709-chr1:114488876..114491433,3	K562	blood:
33	chr1:114328514..114333064-chr1:114341407..114344891,4	MCF-7	breast:
34	chr1:114332999..114335682-chr1:114345986..114348976,2	K562	blood:
35	chr1:114330552..114332424-chr1:114422086..114424136,2	K562	blood:
36	chr1:114336082..114338962-chr1:114345301..114348868,4	K562	blood:
37	chr1:114324677..114327047-chr1:114352445..114354886,5	MCF-7	breast:
38	chr1:114355402..114357827-chr1:114471686..114473610,2	K562	blood:
39	chr1:114330964..114333642-chr1:114352600..114356099,4	MCF-7	breast:
40	chr1:114317996..114324872-chr1:114329159..114335059,8	K562	blood:
41	chr1:114422775..114424966-chr1:114437779..114439803,2	K562	blood:
42	chr1:114353620..114357151-chr1:114445438..114449458,6	K562	blood:
43	chr1:114447790..114448383-chr1:114471947..114472675,2	NB4	blood:
44	chr1:114303216..114304873-chr1:114343722..114346617,2	K562	blood:
45	chr1:114361850..114364464-chr1:114444259..114447022,2	MCF-7	breast:
46	chr1:114447581..114448246-chr1:114471806..114472560,3	HCT-116	colon:
47	chr1:114300221..114302000-chr1:114370664..114372824,3	K562	blood:
48	chr1:114391462..114393060-chr1:114393334..114395012,2	MCF-7	breast:
49	chr1:114336958..114338587-chr1:114341807..114343723,2	MCF-7	breast:
50	chr1:114406869..114409204-chr1:114471342..114473817,3	MCF-7	breast:

(count:24 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BCL2L15-1	chr1:114429871-114430081	NONHSAT005342
2	lnc-AP4B1-1	chr1:114470866-114471010	ENSG00000235527
3	lnc-AP4B1-1	chr1:114466623-114466954	ENSG00000235527
4	lnc-RSBN1-2	chr1:114357286-114357591	NONHSAT005338
5	lnc-DCLRE1B-2	chr1:114355230-114355447	ENSG00000231128.1
6	lnc-DCLRE1B-2	chr1:114365780-114366118	ENSG00000231128.1
7	lnc-DCLRE1B-2	chr1:114366035-114366122	ENSG00000231128.1
8	lnc-DCLRE1B-2	chr1:114358000-114358094	ENSG00000231128.1
9	lnc-AP4B1-1	chr1:114470866-114471854	ENSG00000235527
10	lnc-HIPK1-1	chr1:114455538-114456662	NONHSAT005344
11	lnc-DCLRE1B-2	chr1:114371708-114371793	ENSG00000231128.1
12	lnc-AP4B1-1	chr1:114469475-114470444	ENSG00000235527
13	lnc-AP4B1-1	chr1:114469250-114469363	ENSG00000235527
14	lnc-AP4B1-1	chr1:114470866-114471010	ENSG00000235527
15	lnc-AP4B1-1	chr1:114471325-114471880	ENSG00000235527
16	lnc-AP4B1-1	chr1:114466622-114466954	ENSG00000235527
17	lnc-DCLRE1B-2	chr1:114357009-114357113	ENSG00000231128.1
18	lnc-AP4B1-1	chr1:114466623-114466954	ENSG00000235527
19	lnc-DCLRE1B-2	chr1:114357009-114357113	ENSG00000231128.1
20	lnc-DCLRE1B-2	chr1:114358000-114358098	ENSG00000231128.1
21	lnc-BCL2L15-1	chr1:114420790-114424619	NONHSAT005342
22	lnc-DCLRE1B-2	chr1:114355001-114355234	ENSG00000231128.1
23	lnc-RSBN1-2	chr1:114362199-114362454	NONHSAT005338
24	lnc-AP4B1-1	chr1:114470257-114471010	ENSG00000235527

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTPN22	hsa-miR-181a-5p	chr1:114356935-114356959
2	AP4B1	hsa-miR-23b-3p	chr1:114438773-114438793

Variant related genes	Relation type
RSBN1	TF binding region
HIPK1	TF binding region
ENSG00000231128	TF binding region
PTPN22	TF binding region
AP4B1	TF binding region
AP4B1-AS1	TF binding region
BCL2L15	TF binding region
DCLRE1B	TF binding region
RSBN1	CpG island
HIPK1	CpG island
ENSG00000231128	CpG island
PTPN22	CpG island
AP4B1	CpG island
AP4B1-AS1	CpG island
BCL2L15	CpG island
DCLRE1B	CpG island
ENSG00000173457	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000062725	chromatin interactions
ENSG00000003756	chromatin interactions
ENSG00000143376	chromatin interactions
ENSG00000117133	chromatin interactions
ENSG00000235527	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000204054	chromatin interactions
ENSG00000155367	chromatin interactions
ENSG00000124193	chromatin interactions
ENSG00000100883	chromatin interactions
ENSG00000052723	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000167460	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000134215	chromatin interactions
ENSG00000261595	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000121741	chromatin interactions
ENSG00000163349	chromatin interactions
ENSG00000267637	chromatin interactions
ENSG00000134242	chromatin interactions
ENSG00000226167	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000155380	chromatin interactions
ENSG00000116793	chromatin interactions
ENSG00000258704	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000121022	chromatin interactions
ENSG00000143977	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000152291	chromatin interactions
ENSG00000188761	chromatin interactions
ENSG00000108312	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000134262	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000166902	chromatin interactions
ENSG00000085491	chromatin interactions
ENSG00000118655	chromatin interactions
ENSG00000081019	chromatin interactions
ENSG00000231128	chromatin interactions
ENSG00000130720	chromatin interactions
ENSG00000242612	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000260879	chromatin interactions
CPEB4	miRNA target sites
RAB5B	miRNA target sites
GALNT1	miRNA target sites
BBX	miRNA target sites
RBM39	miRNA target sites
OBFC2A	miRNA target sites
CDC6	miRNA target sites
BTBD3	miRNA target sites

Extended variants
information (count: 4918 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:4918 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2040040	chr1:114331645-114331646	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555174441	chr1:114331661-114331662	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574347786	chr1:114331763-114331764	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs145805859	chr1:114331768-114331769	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs567401795	chr1:114331785-114331786	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs531568113	chr1:114331798-114331799	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs545765016	chr1:114331861-114331862	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565468465	chr1:114331868-114331869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs548541006	chr1:114331879-114331880	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190471491	chr1:114331973-114331974	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs544662711	chr1:114331975-114331976	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs6537797	chr1:114331980-114331981	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs183690431	chr1:114332003-114332004	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs370723245	chr1:114332008-114332009	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs546565884	chr1:114332040-114332041	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113529250	chr1:114332052-114332053	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs578242965	chr1:114332098-114332099	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs552197697	chr1:114332108-114332109	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534155024	chr1:114332161-114332162	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568986582	chr1:114332185-114332186	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs559186515	chr1:114332318-114332319	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs545730313	chr1:114332339-114332340	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs577428551	chr1:114332349-114332350	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs149014726	chr1:114332420-114332421	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs547096807	chr1:114332437-114332438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs568147604	chr1:114332441-114332442	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538537588	chr1:114332461-114332462	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568396543	chr1:114332477-114332478	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs553801477	chr1:114332492-114332493	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs147113491	chr1:114332501-114332502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs539300839	chr1:114332503-114332504	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs558991776	chr1:114332592-114332593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs556157586	chr1:114332595-114332596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs575756925	chr1:114332614-114332615	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs147782391	chr1:114332646-114332647	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs561556212	chr1:114332647-114332648	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs375772292	chr1:114332737-114332738	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs574586827	chr1:114332778-114332779	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs540367907	chr1:114332817-114332818	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs76007032	chr1:114332825-114332826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs141084137	chr1:114332868-114332869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs527572732	chr1:114332898-114332899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs552419721	chr1:114332899-114332900	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs541944262	chr1:114332910-114332911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs562656432	chr1:114332986-114332987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146958949	chr1:114333012-114333013	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs548059911	chr1:114333110-114333111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34279609	chr1:114333187-114333188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs115720592	chr1:114333191-114333192	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533864815	chr1:114333203-114333204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4561 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114303400-114353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114309600-114353400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:114311000-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:114311000-114336800	Weak transcription	Fetal Kidney	kidney
5	chr1:114311000-114341800	Weak transcription	Esophagus	oesophagus
6	chr1:114319800-114352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:114320000-114336200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:114320000-114340000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:114320000-114354000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:114320200-114337200	Weak transcription	Placenta	Placenta
11	chr1:114320400-114337200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:114326600-114335000	Weak transcription	Fetal Stomach	stomach
13	chr1:114326600-114335200	Weak transcription	HMEC	breast
14	chr1:114326600-114337800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:114326800-114335200	Weak transcription	HUVEC	blood vessel
16	chr1:114326800-114335800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:114326800-114335800	Weak transcription	NH-A	brain
18	chr1:114326800-114338600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:114326800-114340000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:114327000-114335000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:114327000-114335200	Weak transcription	NHDF-Ad	bronchial
22	chr1:114327000-114336000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:114327000-114337000	Weak transcription	Brain Germinal Matrix	brain
24	chr1:114327200-114331800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:114327200-114332000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr1:114327200-114333200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:114327200-114334800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:114327200-114337400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:114327400-114331800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:114327400-114331800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:114327400-114331800	Weak transcription	Left Ventricle	heart
32	chr1:114327400-114331800	Weak transcription	Lung	lung
33	chr1:114327400-114331800	Weak transcription	Ovary	ovary
34	chr1:114327400-114331800	Weak transcription	Right Atrium	heart
35	chr1:114327400-114331800	Weak transcription	Right Ventricle	heart
36	chr1:114327400-114332000	Weak transcription	HSMM	muscle
37	chr1:114327400-114332000	Weak transcription	NHEK	skin
38	chr1:114327400-114335000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:114327400-114335200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:114327400-114335400	Weak transcription	Fetal Brain Female	brain
41	chr1:114327400-114335600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:114327400-114336400	Weak transcription	Thymus	Thymus
43	chr1:114327400-114336600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:114327400-114336800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:114327400-114337600	Weak transcription	Adipose Nuclei	Adipose
46	chr1:114327400-114337600	Weak transcription	Fetal Lung	lung
47	chr1:114327400-114339200	Weak transcription	HSMMtube	muscle
48	chr1:114327400-114341600	Weak transcription	Colonic Mucosa	Colon
49	chr1:114327400-114348800	Weak transcription	Spleen	Spleen
50	chr1:114327400-114351200	Weak transcription	Fetal Brain Male	brain

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