Variant report

Variant	esv3369235
Chromosome Location	chr1:226075748-226127738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1732)
CpG islands
(count:1832)
Chromatin interactive
region (count:95)
LncRNA
region (count:2)
Mature miRNA
region (count: 2)
miRNA target
sites (count:4)

(count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226111775-226112126	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:226116174-226116529	K562	blood:	n/a	n/a
3	ARID3A	chr1:226084881-226085102	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:226111945-226112140	K562	blood:	n/a	n/a
5	ARID3A	chr1:226104915-226105473	K562	blood:	n/a	n/a
6	ARID3A	chr1:226119091-226119687	K562	blood:	n/a	n/a
7	ARID3A	chr1:226096067-226096122	HepG2	liver:	n/a	n/a
8	ATF1	chr1:226116107-226116523	K562	blood:	n/a	n/a
9	ATF1	chr1:226119026-226119614	K562	blood:	n/a	n/a
10	ATF2	chr1:226084768-226085227	GM12878	blood:	n/a	n/a
11	ATF2	chr1:226086759-226087356	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:226111726-226112053	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr1:226098940-226099300	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr1:226086857-226087421	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr1:226084748-226085262	GM12878	blood:	n/a	n/a
16	ATF2	chr1:226111646-226112169	GM12878	blood:	n/a	n/a
17	ATF2	chr1:226098908-226099309	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF3	chr1:226111460-226112083	A549	lung:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
19	ATF3	chr1:226111821-226112176	K562	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
20	ATF3	chr1:226116101-226116571	K562	blood:	n/a	n/a
21	ATF3	chr1:226111814-226112141	HepG2	liver:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
22	ATF3	chr1:226111809-226112158	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
23	ATF3	chr1:226111936-226112165	GM12878	blood:	n/a	chr1:226112007-226112027 chr1:226112016-226112025
24	BACH1	chr1:226105294-226105599	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr1:226114325-226114453	K562	blood:	n/a	n/a
26	BACH1	chr1:226098983-226099421	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr1:226116155-226116597	K562	blood:	n/a	n/a
28	BACH1	chr1:226086943-226087474	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:226111677-226111947	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr1:226105279-226105631	K562	blood:	n/a	n/a
31	BACH1	chr1:226108878-226108909	K562	blood:	n/a	n/a
32	BATF	chr1:226107656-226107896	GM12878	blood:	n/a	n/a
33	BATF	chr1:226105298-226105535	GM12878	blood:	n/a	chr1:226105454-226105465
34	BCL11A	chr1:226087033-226087369	H1-hESC	embryonic stem cell:	n/a	n/a
35	BCL11A	chr1:226087044-226087242	H1-hESC	embryonic stem cell:	n/a	n/a
36	BCL3	chr1:226111658-226112099	GM12878	blood:	n/a	n/a
37	BCL3	chr1:226111421-226112154	A549	lung:	n/a	n/a
38	BCL3	chr1:226111581-226112156	A549	lung:	n/a	n/a
39	BCL3	chr1:226116007-226116612	K562	blood:	n/a	chr1:226116345-226116354
40	BCLAF1	chr1:226111460-226112161	GM12878	blood:	n/a	n/a
41	BCLAF1	chr1:226111560-226112189	GM12878	blood:	n/a	n/a
42	BCLAF1	chr1:226111545-226112244	K562	blood:	n/a	n/a
43	BCLAF1	chr1:226099000-226099390	GM12878	blood:	n/a	n/a
44	BCLAF1	chr1:226084841-226085205	GM12878	blood:	n/a	chr1:226085013-226085022
45	BCLAF1	chr1:226111678-226112154	K562	blood:	n/a	n/a
46	BHLHE40	chr1:226099126-226099310	GM12878	blood:	n/a	chr1:226099236-226099252
47	BHLHE40	chr1:226114786-226114803	K562	blood:	n/a	n/a
48	BHLHE40	chr1:226111112-226112194	HepG2	liver:	n/a	n/a
49	BHLHE40	chr1:226084903-226085168	K562	blood:	n/a	n/a
50	BHLHE40	chr1:226115921-226116535	K562	blood:	n/a	n/a

(count:1832 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226086710-226086760	LNCaP	prostate:	n/a
2	chr1:226127290-226127340	ProgFib	skin:	n/a
3	chr1:226086710-226086760	LNCaP	prostate:	n/a
4	chr1:226127290-226127340	ProgFib	skin:	n/a
5	chr1:226076153-226076203	A549	lung:	n/a
6	chr1:226127694-226127744	SK-N-SH	brain:	n/a
7	chr1:226099147-226099197	SKMC	muscle:	n/a
8	chr1:226085079-226085129	HL-60	blood:	n/a
9	chr1:226076153-226076203	HRPEpiC	eye:	n/a
10	chr1:226112258-226112308	HRE	kidney:	n/a
11	chr1:226127290-226127340	HepG2	liver:	n/a
12	chr1:226099031-226099081	ECC-1	luminal epithelium:	n/a
13	chr1:226077287-226077337	AG10803	skin:	n/a
14	chr1:226077303-226077353	MCF-7	breast:	n/a
15	chr1:226112165-226112215	HRCEpiC	kidney:	n/a
16	chr1:226078135-226078185	HRE	kidney:	n/a
17	chr1:226112534-226112584	HEEpiC	esophagus:	n/a
18	chr1:226111372-226111422	A549	lung:	n/a
19	chr1:226086710-226086760	K562	blood:	n/a
20	chr1:226111974-226112024	SK-N-SH_RA	brain:	n/a
21	chr1:226112534-226112584	MCF10A-Er-Src	breast:	n/a
22	chr1:226113058-226113108	HepG2	liver:	n/a
23	chr1:226077287-226077337	IMR90	lung:	fetal
24	chr1:226077628-226077678	AG09309	skin:	n/a
25	chr1:226086710-226086760	Jurkat	blood:	n/a
26	chr1:226112534-226112584	GM19239	blood:	n/a
27	chr1:226077628-226077678	A549	lung:	n/a
28	chr1:226127290-226127340	GM12878	blood:	n/a
29	chr1:226086710-226086760	AoSMC	blood vessel:	n/a
30	chr1:226127290-226127340	HCT-116	colon:	n/a
31	chr1:226110727-226110777	HPAEpiC	pulmonary alveolar:	n/a
32	chr1:226114565-226114615	Jurkat	blood:	n/a
33	chr1:226127290-226127340	HMEC	breast:	n/a
34	chr1:226112373-226112423	PANC-1	pancreas:	n/a
35	chr1:226099031-226099081	HAEpiC	amniotic membrane:	n/a
36	chr1:226127694-226127744	HepG2	liver:	n/a
37	chr1:226112534-226112584	PANC-1	pancreas:	n/a
38	chr1:226110727-226110777	PFSK-1	brain:	n/a
39	chr1:226099147-226099197	NHBE	bronchial:	n/a
40	chr1:226114565-226114615	NH-A	brain:	n/a
41	chr1:226107899-226107949	NH-A	brain:	n/a
42	chr1:226112373-226112423	AG04450	lung:	fetal
43	chr1:226127694-226127744	HCM	heart:	n/a
44	chr1:226112165-226112215	PFSK-1	brain:	n/a
45	chr1:226124569-226124619	HRE	kidney:	n/a
46	chr1:226078237-226078287	HCT-116	colon:	n/a
47	chr1:226111974-226112024	Caco-2	colon:	n/a
48	chr1:226107899-226107949	HRPEpiC	eye:	n/a
49	chr1:226085836-226085886	K562	blood:	n/a
50	chr1:226126862-226126912	U87	brain:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
2	chr1:226068298..226071251-chr1:226106254..226108786,4	MCF-7	breast:
3	chr1:226084737..226087614-chr1:226108761..226113097,5	K562	blood:
4	chr1:226092808..226094499-chr1:226106559..226108210,2	MCF-7	breast:
5	chr1:226097429..226099250-chr1:226107461..226109744,3	MCF-7	breast:
6	chr1:226092037..226094037-chr1:226096145..226097918,2	K562	blood:
7	chr1:226069355..226072326-chr1:226116134..226117675,2	K562	blood:
8	chr1:226103278..226105384-chr1:226143217..226145668,2	K562	blood:
9	chr1:226106739..226108269-chr1:226135055..226137378,2	K562	blood:
10	chr1:226025881..226027741-chr1:226105867..226108259,2	K562	blood:
11	chr1:225964871..225966516-chr1:226110750..226112942,2	MCF-7	breast:
12	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
13	chr1:226111842..226114398-chr1:228644051..228646541,2	K562	blood:
14	chr1:226111626..226112491-chrX:108780167..108780840,2	NB4	blood:
15	chr1:225963935..225966560-chr1:226115548..226117659,2	K562	blood:
16	chr1:226069219..226071765-chr1:226095190..226096752,2	K562	blood:
17	chr1:226113187..226115490-chr1:226126660..226128244,2	K562	blood:
18	chr1:226068854..226071766-chr1:226104975..226107758,2	K562	blood:
19	chr1:226096836..226099303-chr1:226126858..226129548,2	K562	blood:
20	chr1:226055732..226058409-chr1:226119393..226121117,2	K562	blood:
21	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:
22	chr1:226108026..226109867-chr1:226122182..226124487,2	K562	blood:
23	chr1:226076187..226078341-chr1:226083118..226085754,2	K562	blood:
24	chr1:226093233..226096389-chr1:226111955..226115437,4	K562	blood:
25	chr1:226073077..226074812-chr1:226081952..226084486,2	K562	blood:
26	chr1:226080997..226083226-chr1:226084406..226086533,2	K562	blood:
27	chr1:226111849..226112644-chrX:117861485..117862049,2	HCT-116	colon:
28	chr1:226111991..226112539-chr8:61564478..61565051,2	Hela-S3	cervix:
29	chr1:226111940..226112614-chr17:61627314..61628235,2	Hela-S3	cervix:
30	chr1:226064389..226066777-chr1:226084664..226086775,2	MCF-7	breast:
31	chr1:226080382..226082754-chr1:226132657..226134532,2	K562	blood:
32	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
33	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
34	chr1:226096836..226099303-chr1:226126858..226129548,2	K562	blood:
35	chr1:226084282..226085817-chr1:226093529..226096512,2	K562	blood:
36	chr1:225968570..225970564-chr1:226082071..226083838,2	K562	blood:
37	chr1:226094730..226096408-chr1:226161772..226163850,2	K562	blood:
38	chr1:226070563..226073306-chr1:226118336..226120549,2	K562	blood:
39	chr1:226119249..226122725-chr1:226127061..226129247,3	K562	blood:
40	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
41	chr1:226092799..226094915-chr1:226095358..226098019,2	MCF-7	breast:
42	chr1:226097429..226099250-chr1:226107461..226109744,3	MCF-7	breast:
43	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:
44	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
45	chr1:226090023..226093610-chr1:226095075..226102171,8	K562	blood:
46	chr1:226070069..226070803-chr1:226098754..226099255,2	MCF-7	breast:
47	chr1:226080997..226083226-chr1:226084406..226086533,2	K562	blood:
48	chr1:226068047..226071599-chr1:226082710..226085024,3	K562	blood:
49	chr1:226112902..226114539-chr1:226249903..226252029,2	K562	blood:
50	chr1:226032713..226034460-chr1:226100032..226102843,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEFTY1-2	chr1:226111611-226111700	NONHSAT009865
2	lnc-LEFTY1-2	chr1:226110840-226111471	NONHSAT009865

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6741-3p	chr1:226109780-226109801	MIMAT0027384
hsa-miR-6741-5p	chr1:226109816-226109837	MIMAT0027383

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	LEFTY2	hsa-miR-302a-3p	chr1:226124969-226124962
2	LEFTY2	hsa-miR-302d-3p	chr1:226124969-226124962
3	LEFTY2	hsa-miR-302a-3p	chr1:226124963-226124988
4	LEFTY2	hsa-miR-302d-3p	chr1:226124963-226124986

Variant related genes	Relation type
ENSG00000248322	TF binding region
PYCR2	TF binding region
ENSG00000255835	TF binding region
LEFTY1	TF binding region
ENSG00000248322	CpG island
PYCR2	CpG island
ENSG00000255835	CpG island
LEFTY1	CpG island
ENSG00000143768	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000131724	chromatin interactions
ENSG00000101888	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000136485	chromatin interactions
ENSG00000242861	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000196890	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000181218	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000248322	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000163041	chromatin interactions

Extended variants
information (count: 2066 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2066 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs451567	chr1:226075767-226075768	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs111635992	chr1:226075819-226075820	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs533656470	chr1:226075820-226075821	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371502340	chr1:226075843-226075844	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573606819	chr1:226075847-226075848	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs371246904	chr1:226075851-226075852	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113731950	chr1:226075871-226075872	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369374080	chr1:226075922-226075923	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs545185869	chr1:226075923-226075924	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148327806	chr1:226075958-226075959	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573347805	chr1:226075988-226075989	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs540759269	chr1:226076026-226076027	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142965295	chr1:226076035-226076036	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs573375640	chr1:226076039-226076040	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs420881	chr1:226076060-226076061	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs529329094	chr1:226076079-226076080	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550989569	chr1:226076084-226076085	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563150915	chr1:226076090-226076091	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533455154	chr1:226076131-226076132	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551524682	chr1:226076149-226076150	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs138527556	chr1:226076154-226076155	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533618815	chr1:226076175-226076176	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549094324	chr1:226076191-226076192	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs66928485	chr1:226076314-226076315	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs7514448	chr1:226076315-226076316	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs562347569	chr1:226076336-226076337	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs562293604	chr1:226076337-226076338	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530844085	chr1:226076350-226076351	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs577975628	chr1:226076351-226076352	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538957909	chr1:226076372-226076373	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs369803009	chr1:226076376-226076377	Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553989274	chr1:226076407-226076408	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs572305206	chr1:226076414-226076415	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373912850	chr1:226076442-226076443	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540362482	chr1:226076462-226076463	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372125182	chr1:226076481-226076482	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs144133143	chr1:226076492-226076493	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574053651	chr1:226076499-226076500	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199795988	chr1:226076510-226076511	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs562755461	chr1:226076520-226076521	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148172390	chr1:226076529-226076530	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551683734	chr1:226076542-226076543	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146054726	chr1:226076544-226076545	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138826949	chr1:226076545-226076546	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376034532	chr1:226076547-226076548	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139545692	chr1:226076551-226076552	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202024911	chr1:226076553-226076554	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149725453	chr1:226076559-226076560	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs61995951	chr1:226076583-226076584	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570726921	chr1:226076584-226076585	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Autism	14699429	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Fumarase deficiency	21572526	CNVD
Autism	17483303	CNVD
Kartagener syndrome	16639409	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
2	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
3	chr1:226071000-226078600	Weak transcription	Lung	lung
4	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
7	chr1:226071200-226076200	Weak transcription	A549	lung
8	chr1:226071200-226078200	Weak transcription	Gastric	stomach
9	chr1:226071200-226078200	Weak transcription	HMEC	breast
10	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
12	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
14	chr1:226071800-226076800	Weak transcription	K562	blood
15	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
16	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:226073000-226077000	Strong transcription	Right Atrium	heart
21	chr1:226073200-226079800	Enhancers	Liver	Liver
22	chr1:226074200-226077000	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr1:226074400-226076800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:226074400-226077200	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:226074600-226076000	Enhancers	Fetal Lung	lung
26	chr1:226074600-226076000	Weak transcription	Pancreas	Pancrea
27	chr1:226074600-226076200	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:226074600-226076200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:226074600-226076600	Weak transcription	Stomach Mucosa	stomach
30	chr1:226074800-226076800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:226074800-226078800	Enhancers	Fetal Stomach	stomach
32	chr1:226075000-226075800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:226075000-226076000	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:226075000-226076400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:226075000-226076600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr1:226075000-226076800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr1:226075200-226076600	Weak transcription	Fetal Intestine Small	intestine
38	chr1:226075200-226077200	Active TSS	Colonic Mucosa	Colon
39	chr1:226075400-226075800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:226075400-226075800	Weak transcription	HepG2	liver
41	chr1:226075400-226076800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:226075400-226079200	Enhancers	Ovary	ovary
43	chr1:226075600-226075800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226075600-226075800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:226075600-226076200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:226075600-226076600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr1:226075600-226076800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:226075600-226076800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:226075800-226076000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:226075800-226076000	Enhancers	HepG2	liver

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