Variant report

Variant	esv3354874
Chromosome Location	chr1:226069354-226072202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:710)
CpG islands
(count:855)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:710 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:226070017-226070300	HepG2	liver:	n/a	n/a
2	ATF2	chr1:226069988-226070304	GM12878	blood:	n/a	n/a
3	ATF3	chr1:226069970-226070269	A549	lung:	n/a	n/a
4	ATF3	chr1:226069905-226070317	K562	blood:	n/a	n/a
5	BACH1	chr1:226070408-226070608	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr1:226070382-226070566	K562	blood:	n/a	n/a
7	BACH1	chr1:226069866-226069999	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr1:226069961-226070450	GM12878	blood:	n/a	chr1:226070139-226070152 chr1:226070006-226070015 chr1:226070004-226070017 chr1:226070144-226070153 chr1:226070140-226070153 chr1:226070101-226070114
9	BHLHE40	chr1:226069619-226070846	K562	blood:	n/a	n/a
10	BHLHE40	chr1:226069911-226070437	GM12878	blood:	n/a	n/a
11	BRCA1	chr1:226070006-226070402	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr1:226070636-226070978	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr1:226070099-226070166	GM12878	blood:	n/a	n/a
14	BRCA1	chr1:226071620-226071940	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr1:226069090-226070748	K562	blood:	n/a	n/a
16	CBX3	chr1:226070828-226071255	K562	blood:	n/a	n/a
17	CBX3	chr1:226071508-226071960	K562	blood:	n/a	n/a
18	CCNT2	chr1:226069235-226071005	K562	blood:	n/a	chr1:226069725-226069734 chr1:226069882-226069891
19	CEBPB	chr1:226069836-226070347	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr1:226069992-226070299	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:226069991-226070235	K562	blood:	n/a	n/a
22	CEBPB	chr1:226069953-226070289	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:226069982-226070249	A549	lung:	n/a	n/a
24	CEBPB	chr1:226070726-226071009	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr1:226069910-226070325	K562	blood:	n/a	n/a
26	CEBPB	chr1:226070006-226070364	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr1:226069993-226070238	HepG2	liver:	n/a	n/a
28	CEBPB	chr1:226069946-226070305	K562	blood:	n/a	n/a
29	CEBPB	chr1:226069939-226070313	HepG2	liver:	n/a	n/a
30	CEBPD	chr1:226070003-226070423	K562	blood:	n/a	n/a
31	CEBPD	chr1:226069894-226070404	HepG2	liver:	n/a	n/a
32	CHD1	chr1:226070145-226070405	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr1:226069599-226069769	GM12878	blood:	n/a	n/a
34	CHD1	chr1:226070471-226070659	GM12878	blood:	n/a	chr1:226070578-226070588
35	CHD2	chr1:226070589-226071019	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr1:226069384-226071033	K562	blood:	n/a	chr1:226070578-226070588
37	CHD2	chr1:226069968-226069986	HepG2	liver:	n/a	n/a
38	CHD2	chr1:226070643-226070919	HepG2	liver:	n/a	n/a
39	CHD2	chr1:226070008-226070381	GM12878	blood:	n/a	n/a
40	CHD2	chr1:226071673-226071891	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr1:226069882-226070023	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr1:226069335-226069670	GM12878	blood:	n/a	n/a
43	CHD2	chr1:226069350-226070363	Hela-S3	cervix:	n/a	n/a
44	CREB1	chr1:226069997-226070334	A549	lung:	n/a	n/a
45	CTBP2	chr1:226069623-226070789	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:226070040-226070190	HBMEC	blood vessel:	n/a	n/a
47	CTCF	chr1:226069800-226069950	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr1:226070040-226070190	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr1:226070060-226070210	HEEpiC	esophagus:	n/a	n/a
50	CTCF	chr1:226070100-226070390	HA-sp	spinal cord:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226070524-226070574	AG09309	skin:	n/a
2	chr1:226070524-226070574	AG09309	skin:	n/a
3	chr1:226070545-226070595	HCM	heart:	n/a
4	chr1:226070448-226070498	K562	blood:	n/a
5	chr1:226070656-226070706	ECC-1	luminal epithelium:	n/a
6	chr1:226070397-226070447	AG09319	gingival:	n/a
7	chr1:226070052-226070102	GM12891	blood:	n/a
8	chr1:226069930-226069980	GM12892	blood:	n/a
9	chr1:226070524-226070574	LNCaP	prostate:	n/a
10	chr1:226070448-226070498	GM06990	blood:	n/a
11	chr1:226070709-226070759	HCT-116	colon:	n/a
12	chr1:226070656-226070706	NT2-D1	testis:	n/a
13	chr1:226070052-226070102	HepG2	liver:	n/a
14	chr1:226070052-226070102	GM12878	blood:	n/a
15	chr1:226070470-226070520	BE2_C	brain:	n/a
16	chr1:226070545-226070595	HEK293	kidney:	embryo
17	chr1:226070470-226070520	SK-N-SH_RA	brain:	n/a
18	chr1:226071684-226071734	H1-hESC	embryonic stem cell:	embryo
19	chr1:226070397-226070447	MCF-7	breast:	n/a
20	chr1:226071684-226071734	GM19239	blood:	n/a
21	chr1:226070524-226070574	HUVEC	blood vessel:	n/a
22	chr1:226070808-226070858	HCPEpiC	choroid plexus:	n/a
23	chr1:226070397-226070447	LNCaP	prostate:	n/a
24	chr1:226070656-226070706	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:226070210-226070260	HEEpiC	esophagus:	n/a
26	chr1:226069930-226069980	NB4	blood:	n/a
27	chr1:226070045-226070095	HL-60	blood:	n/a
28	chr1:226070045-226070095	NB4	blood:	n/a
29	chr1:226069919-226069969	NT2-D1	testis:	n/a
30	chr1:226070656-226070706	MCF-7	breast:	n/a
31	chr1:226070397-226070447	GM06990	blood:	n/a
32	chr1:226070397-226070447	HRE	kidney:	n/a
33	chr1:226070656-226070706	NB4	blood:	n/a
34	chr1:226070397-226070447	Hela-S3	cervix:	n/a
35	chr1:226070052-226070102	AG04449	skin:	fetal
36	chr1:226070656-226070706	CMK	blood:	n/a
37	chr1:226071684-226071734	A549	lung:	n/a
38	chr1:226069919-226069969	HL-60	blood:	n/a
39	chr1:226070045-226070095	NH-A	brain:	n/a
40	chr1:226070545-226070595	PANC-1	pancreas:	n/a
41	chr1:226070052-226070102	CMK	blood:	n/a
42	chr1:226070709-226070759	AoSMC	blood vessel:	n/a
43	chr1:226070808-226070858	NHBE	bronchial:	n/a
44	chr1:226070448-226070498	HNPCEpiC	eye:	n/a
45	chr1:226071684-226071734	HRCEpiC	kidney:	n/a
46	chr1:226070470-226070520	GM12891	blood:	n/a
47	chr1:226070448-226070498	SK-N-SH_RA	brain:	n/a
48	chr1:226070656-226070706	HEK293	kidney:	embryo
49	chr1:226070709-226070759	Caco-2	colon:	n/a
50	chr1:226069919-226069969	GM06990	blood:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225660989..225663497-chr1:226070471..226072090,2	K562	blood:
2	chr1:226067837..226071624-chr1:226184531..226189088,6	K562	blood:
3	chr1:226070277..226070992-chr15:45926572..45927323,2	Hela-S3	cervix:
4	chr1:226070563..226073306-chr1:226118336..226120549,2	K562	blood:
5	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
6	chr1:226066914..226069709-chr1:226309865..226312651,2	K562	blood:
7	chr1:225963541..225967644-chr1:226069236..226073918,5	MCF-7	breast:
8	chr1:226070069..226070803-chr1:226098754..226099255,2	MCF-7	breast:
9	chr1:226068960..226071215-chr11:62609040..62611080,2	MCF-7	breast:
10	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
11	chr1:226070971..226073106-chr1:226113461..226115401,2	MCF-7	breast:
12	chr1:226035721..226038687-chr1:226067702..226069898,2	K562	blood:
13	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
14	chr1:225662424..225663252-chr1:226071421..226072025,2	MCF-7	breast:
15	chr1:226070080..226072229-chr1:226145455..226147029,2	K562	blood:
16	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
17	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
18	chr1:226054269..226057848-chr1:226069122..226072255,3	K562	blood:
19	chr1:226047047..226048850-chr1:226067848..226071913,3	MCF-7	breast:
20	chr1:226070093..226070593-chr9:140168206..140168750,2	NB4	blood:
21	chr1:225964533..225968744-chr1:226068261..226071590,3	MCF-7	breast:
22	chr1:226053217..226056086-chr1:226069002..226071584,2	MCF-7	breast:
23	chr1:226069198..226071720-chr1:226149361..226151916,2	MCF-7	breast:
24	chr1:226032510..226034899-chr1:226069383..226071490,2	MCF-7	breast:
25	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
26	chr1:226067757..226070388-chr1:226097360..226099727,2	MCF-7	breast:
27	chr1:226069701..226070650-chr5:442377..443321,2	Hela-S3	cervix:
28	chr1:119682798..119683560-chr1:226069418..226070191,2	NB4	blood:
29	chr1:226067837..226069575-chr1:226185536..226187793,2	K562	blood:
30	chr1:226053727..226055880-chr1:226069290..226070897,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM63A	TF binding region
TMEM63A	CpG island
ENSG00000231365	chromatin interactions
ENSG00000243709	chromatin interactions
ENSG00000213032	chromatin interactions
ENSG00000221990	chromatin interactions
ENSG00000196187	chromatin interactions
ENSG00000143811	chromatin interactions
ENSG00000116874	chromatin interactions
ENSG00000143751	chromatin interactions
ENSG00000242861	chromatin interactions
ENSG00000137767	chromatin interactions
ENSG00000180104	chromatin interactions
ENSG00000143742	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10915890	chr1:226069388-226069389	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539686224	chr1:226069401-226069402	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs558340261	chr1:226069418-226069419	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs3766939	chr1:226069469-226069470	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs144911167	chr1:226069474-226069475	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs180990991	chr1:226069513-226069514	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs573337999	chr1:226069533-226069534	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs374127228	chr1:226069543-226069544	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs3766940	chr1:226069545-226069546	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs3835535	chr1:226069584-226069585	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs397841070	chr1:226069587-226069588	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs112844127	chr1:226069642-226069643	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs557509201	chr1:226069684-226069685	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs533144930	chr1:226069693-226069694	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs551238987	chr1:226069707-226069708	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs560314515	chr1:226069732-226069733	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs116269297	chr1:226069772-226069773	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs547148511	chr1:226069779-226069780	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs186410787	chr1:226069817-226069818	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs555128632	chr1:226069834-226069835	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs36086243	chr1:226069864-226069865	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs574972838	chr1:226069884-226069885	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs529352345	chr1:226069918-226069919	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs551245966	chr1:226069920-226069921	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs543903167	chr1:226069929-226069930	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs569409646	chr1:226069942-226069943	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs3215222	chr1:226069947-226069948	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs540130287	chr1:226069972-226069973	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs191213810	chr1:226069991-226069992	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs183229670	chr1:226070053-226070054	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs533628839	chr1:226070077-226070078	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs555073638	chr1:226070132-226070133	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs386639882	chr1:226070192-226070193	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs80219240	chr1:226070194-226070195	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs376437146	chr1:226070197-226070198	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs112376565	chr1:226070276-226070277	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs34136963	chr1:226070277-226070278	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs556136503	chr1:226070323-226070324	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs577829574	chr1:226070330-226070331	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs375693842	chr1:226070364-226070365	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs545301221	chr1:226070405-226070406	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs560071509	chr1:226070428-226070429	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs28384449	chr1:226070429-226070430	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540726349	chr1:226070449-226070450	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs572782287	chr1:226070463-226070464	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs28384448	chr1:226070493-226070494	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs35559041	chr1:226070503-226070504	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs28384447	chr1:226070546-226070547	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533426161	chr1:226070557-226070558	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs115546449	chr1:226070571-226070572	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226065400-226069400	Flanking Active TSS	Duodenum Mucosa	Duodenum
2	chr1:226066400-226070000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:226066600-226069400	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr1:226066600-226069400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr1:226066800-226069400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:226067000-226069400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr1:226067000-226069600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:226067000-226070000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:226067200-226069400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr1:226067200-226069400	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr1:226067200-226069800	Flanking Active TSS	Fetal Thymus	thymus
12	chr1:226067200-226070000	Flanking Active TSS	Dnd41	blood
13	chr1:226067200-226071000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:226067400-226069400	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr1:226067400-226069600	Flanking Active TSS	Liver	Liver
16	chr1:226067400-226069800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:226067600-226069400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr1:226067600-226069600	Enhancers	Fetal Heart	heart
19	chr1:226067800-226069400	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:226067800-226069400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr1:226067800-226069400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr1:226067800-226069400	Flanking Active TSS	Fetal Intestine Large	intestine
23	chr1:226067800-226069400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr1:226067800-226069400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr1:226067800-226069400	Flanking Active TSS	GM12878-XiMat	blood
26	chr1:226067800-226069600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:226067800-226069600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226067800-226070000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr1:226067800-226070000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr1:226068000-226069400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:226068000-226069400	Flanking Active TSS	Fetal Lung	lung
32	chr1:226068000-226069800	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr1:226068000-226069800	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr1:226068200-226069400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:226068200-226069400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:226068200-226069400	Flanking Active TSS	Colon Smooth Muscle	Colon
37	chr1:226068200-226069400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr1:226068200-226070000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:226068400-226069400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr1:226068400-226069400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:226068400-226069400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:226068400-226069600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr1:226068400-226069600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:226068600-226069400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:226068600-226069400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr1:226068600-226069400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr1:226068600-226069400	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr1:226068600-226069400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:226068600-226069400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr1:226068600-226069400	Flanking Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links