Variant report

Variant	esv3353820
Chromosome Location	chr7:26241388-26242640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:123)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:26240229-26241396	HepG2	liver:	n/a	chr7:26241058-26241066
2	ATF1	chr7:26240214-26241459	K562	blood:	n/a	chr7:26240423-26240437
3	ATF2	chr7:26239235-26241418	GM12878	blood:	n/a	chr7:26240423-26240437
4	BACH1	chr7:26240239-26242359	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr7:26240870-26241538	GM12878	blood:	n/a	chr7:26241388-26241397
6	BCLAF1	chr7:26240786-26241613	GM12878	blood:	n/a	chr7:26241388-26241397
7	BCLAF1	chr7:26240661-26241591	GM12878	blood:	n/a	chr7:26241388-26241397
8	BCLAF1	chr7:26238925-26241630	K562	blood:	n/a	chr7:26241388-26241397
9	BHLHE40	chr7:26239673-26242127	HepG2	liver:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
10	BHLHE40	chr7:26239612-26242521	GM12878	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
11	BHLHE40	chr7:26239435-26242156	K562	blood:	n/a	chr7:26241559-26241575 chr7:26241618-26241634 chr7:26241556-26241572 chr7:26242047-26242063
12	BRCA1	chr7:26241350-26241616	GM12878	blood:	n/a	n/a
13	BRCA1	chr7:26240123-26241543	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr7:26242065-26242856	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr7:26242026-26242037	HepG2	liver:	n/a	n/a
16	BRCA1	chr7:26241407-26241502	HepG2	liver:	n/a	n/a
17	CBX3	chr7:26241276-26241662	K562	blood:	n/a	n/a
18	CCNT2	chr7:26242497-26242902	K562	blood:	n/a	n/a
19	CCNT2	chr7:26237794-26242144	K562	blood:	n/a	chr7:26241755-26241764 chr7:26241718-26241727 chr7:26241531-26241540 chr7:26241723-26241732 chr7:26241536-26241545
20	CEBPB	chr7:26241545-26241767	K562	blood:	n/a	n/a
21	CEBPD	chr7:26241043-26241510	HepG2	liver:	n/a	n/a
22	CEBPD	chr7:26239242-26241690	K562	blood:	n/a	n/a
23	CEBPD	chr7:26241045-26241556	HepG2	liver:	n/a	n/a
24	CHD1	chr7:26235855-26242752	GM12878	blood:	n/a	n/a
25	CHD1	chr7:26234064-26243804	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr7:26241869-26241956	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr7:26239189-26241579	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr7:26239002-26242125	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr7:26239048-26242078	GM12878	blood:	n/a	n/a
30	CHD2	chr7:26239058-26241941	HepG2	liver:	n/a	n/a
31	CHD2	chr7:26238150-26242387	K562	blood:	n/a	n/a
32	CREB1	chr7:26239562-26241615	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr7:26239722-26241876	GM12878	blood:	n/a	n/a
34	CREB1	chr7:26239626-26242130	A549	lung:	n/a	n/a
35	CREB1	chr7:26240939-26241963	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr7:26239696-26242053	K562	blood:	n/a	n/a
37	CREB1	chr7:26239983-26241603	HepG2	liver:	n/a	n/a
38	CREB1	chr7:26239330-26242164	HepG2	liver:	n/a	n/a
39	CTBP2	chr7:26239729-26241630	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr7:26241800-26241950	GM12869	blood:	n/a	n/a
41	CTCF	chr7:26241817-26241884	Fibrobl	skin:	n/a	n/a
42	CTCF	chr7:26241780-26241930	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr7:26241640-26241790	GM12873	blood:	n/a	n/a
44	CTCF	chr7:26241700-26241850	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr7:26241920-26242070	GM12875	blood:	n/a	chr7:26241995-26242008
46	CTCF	chr7:26241700-26241850	GM12866	blood:	n/a	n/a
47	CTCF	chr7:26241762-26241767	MCF-7	breast:	n/a	n/a
48	CTCF	chr7:26241763-26241847	MCF-7	breast:	n/a	n/a
49	CTCF	chr7:26241694-26241978	GM12878	blood:	n/a	n/a
50	CTCF	chr7:26241776-26241840	MCF-7	breast:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26241406-26241456	HepG2	liver:	n/a
2	chr7:26241406-26241456	HepG2	liver:	n/a
3	chr7:26241406-26241456	LNCaP	prostate:	n/a
4	chr7:26241504-26241554	Jurkat	blood:	n/a
5	chr7:26241504-26241554	NB4	blood:	n/a
6	chr7:26241406-26241456	Hela-S3	cervix:	n/a
7	chr7:26241406-26241456	AG09309	skin:	n/a
8	chr7:26241504-26241554	PANC-1	pancreas:	n/a
9	chr7:26241504-26241554	AoSMC	blood vessel:	n/a
10	chr7:26241406-26241456	SK-N-MC	brain:	n/a
11	chr7:26241406-26241456	BJ	skin:	n/a
12	chr7:26241504-26241554	NHBE	bronchial:	n/a
13	chr7:26241406-26241456	A549	lung:	n/a
14	chr7:26241406-26241456	BE2_C	brain:	n/a
15	chr7:26241406-26241456	NB4	blood:	n/a
16	chr7:26241504-26241554	A549	lung:	n/a
17	chr7:26241504-26241554	RPTEC	kidney:	n/a
18	chr7:26241406-26241456	K562	blood:	n/a
19	chr7:26241406-26241456	HRPEpiC	eye:	n/a
20	chr7:26241504-26241554	HRE	kidney:	n/a
21	chr7:26241504-26241554	HCT-116	colon:	n/a
22	chr7:26241504-26241554	HepG2	liver:	n/a
23	chr7:26241406-26241456	GM06990	blood:	n/a
24	chr7:26241504-26241554	GM19239	blood:	n/a
25	chr7:26241504-26241554	GM12892	blood:	n/a
26	chr7:26241504-26241554	ProgFib	skin:	n/a
27	chr7:26241504-26241554	AG10803	skin:	n/a
28	chr7:26241406-26241456	HMEC	breast:	n/a
29	chr7:26241504-26241554	HRCEpiC	kidney:	n/a
30	chr7:26241504-26241554	NHDF-neo	bronchial:	n/a
31	chr7:26241504-26241554	MCF-7	breast:	n/a
32	chr7:26241406-26241456	SK-N-SH_RA	brain:	n/a
33	chr7:26241406-26241456	GM12878	blood:	n/a
34	chr7:26241406-26241456	HEK293	kidney:	embryo
35	chr7:26241504-26241554	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:26241504-26241554	HCM	heart:	n/a
37	chr7:26241504-26241554	T-47D	breast:	n/a
38	chr7:26241406-26241456	NHDF-neo	bronchial:	n/a
39	chr7:26241406-26241456	AoSMC	blood vessel:	n/a
40	chr7:26241504-26241554	BJ	skin:	n/a
41	chr7:26241504-26241554	AG04449	skin:	fetal
42	chr7:26241406-26241456	PANC-1	pancreas:	n/a
43	chr7:26241406-26241456	MCF10A-Er-Src	breast:	n/a
44	chr7:26241504-26241554	SAEC	small airway:	n/a
45	chr7:26241406-26241456	Jurkat	blood:	n/a
46	chr7:26241504-26241554	HUVEC	blood vessel:	n/a
47	chr7:26241504-26241554	H1-hESC	embryonic stem cell:	embryo
48	chr7:26241406-26241456	SK-N-SH	brain:	n/a
49	chr7:26241504-26241554	HCF	heart:	n/a
50	chr7:26241406-26241456	H1-hESC	embryonic stem cell:	embryo

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:34745443..34746157-chr7:26241322..26241946,2	Hela-S3	cervix:
2	chr4:6988415..6989407-chr7:26241102..26241602,2	Hela-S3	cervix:
3	chr18:51750567..51751362-chr7:26240989..26241524,2	Hela-S3	cervix:
4	chr17:1620010..1620539-chr7:26240863..26241470,2	Hela-S3	cervix:
5	chr7:26239911..26241819-chr7:26331558..26335355,4	K562	blood:
6	chr7:26190149..26194223-chr7:26238891..26242307,10	MCF-7	breast:
7	chr19:15487333..15489942-chr7:26241262..26242793,2	MCF-7	breast:
8	chr7:26240189..26242389-chr7:26313126..26315933,2	MCF-7	breast:
9	chr6:17705801..17708591-chr7:26239203..26241423,2	K562	blood:
10	chr7:26238789..26244149-chr7:26328226..26335284,15	MCF-7	breast:
11	chr7:26241333..26241864-chrX:15692264..15693108,2	NB4	blood:
12	chr11:313579..314474-chr7:26240970..26241885,3	NB4	blood:
13	chr17:56707690..56710549-chr7:26238057..26243004,5	MCF-7	breast:
14	chr19:49468169..49468865-chr7:26241008..26241813,2	Hela-S3	cervix:
15	chr7:26096714..26102069-chr7:26240159..26243560,6	MCF-7	breast:
16	chr7:26238219..26243115-chr7:26329445..26335775,8	MCF-7	breast:
17	chr7:26240504..26242868-chr7:26414665..26416985,3	MCF-7	breast:
18	chr7:26239115..26241411-chr7:26331558..26333591,3	K562	blood:
19	chr7:26238011..26242916-chr7:26400117..26407916,12	MCF-7	breast:
20	chr7:26134161..26136379-chr7:26242320..26244096,2	K562	blood:
21	chr10:43901751..43904156-chr7:26239345..26241405,2	K562	blood:
22	chr7:26188281..26195881-chr7:26237249..26245873,15	K562	blood:
23	chr17:78518626..78519126-chr7:26241370..26242337,2	NB4	blood:
24	chr7:26191482..26195412-chr7:26238481..26241782,5	MCF-7	breast:
25	chr15:90727689..90728302-chr7:26241257..26241880,2	Hela-S3	cervix:
26	chr15:43622327..43623006-chr7:26240757..26241505,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
CBX3	TF binding region
HNRNPA2B1	TF binding region
CBX3	CpG island
HNRNPA2B1	CpG island
ENSG00000087086	chromatin interactions
ENSG00000225792	chromatin interactions
ENSG00000132405	chromatin interactions
ENSG00000272269	chromatin interactions
ENSG00000185885	chromatin interactions
ENSG00000168806	chromatin interactions
ENSG00000185033	chromatin interactions
ENSG00000166398	chromatin interactions
ENSG00000050344	chromatin interactions
ENSG00000186594	chromatin interactions
ENSG00000186312	chromatin interactions
ENSG00000169813	chromatin interactions
ENSG00000141564	chromatin interactions
ENSG00000268189	chromatin interactions
ENSG00000266430	chromatin interactions
ENSG00000232383	chromatin interactions
ENSG00000086300	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000168803	chromatin interactions
ENSG00000134046	chromatin interactions
ENSG00000124789	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529833280	chr7:26241426-26241427	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs111259750	chr7:26241447-26241448	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs534586372	chr7:26241455-26241456	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs543171866	chr7:26241475-26241476	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
5	rs553149152	chr7:26241479-26241480	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
6	rs563371614	chr7:26241504-26241505	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
7	rs531812893	chr7:26241511-26241512	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
8	rs551907984	chr7:26241513-26241514	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
9	rs147214544	chr7:26241519-26241520	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
10	rs140324309	chr7:26241520-26241521	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
11	rs547838130	chr7:26241521-26241522	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
12	rs371859332	chr7:26241529-26241530	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs567649697	chr7:26241534-26241535	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
14	rs536614209	chr7:26241541-26241542	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs182290639	chr7:26241544-26241545	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs570094820	chr7:26241625-26241626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs185016394	chr7:26241647-26241648	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs538498956	chr7:26241659-26241660	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs111382546	chr7:26241669-26241670	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs190293844	chr7:26241692-26241693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
21	rs534591703	chr7:26241705-26241706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs554412791	chr7:26241717-26241718	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs376149331	chr7:26241718-26241719	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs372689588	chr7:26241721-26241722	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs574373697	chr7:26241726-26241727	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs543357291	chr7:26241809-26241810	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs574580201	chr7:26241822-26241823	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs527461800	chr7:26241864-26241865	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs563244637	chr7:26241874-26241875	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs576860321	chr7:26241889-26241890	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs545662478	chr7:26241895-26241896	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs547605293	chr7:26241900-26241901	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs13238876	chr7:26241912-26241913	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs565455800	chr7:26241924-26241925	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs528024567	chr7:26241961-26241962	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs541986335	chr7:26241974-26241975	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs182377644	chr7:26241995-26241996	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs530051425	chr7:26242001-26242002	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs368201219	chr7:26242055-26242056	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs570098706	chr7:26242076-26242077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs539101950	chr7:26242077-26242078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs551990185	chr7:26242080-26242081	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs565555916	chr7:26242083-26242084	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs118125475	chr7:26242090-26242091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs534484135	chr7:26242132-26242133	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs554449577	chr7:26242141-26242142	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs372464446	chr7:26242147-26242148	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs188703145	chr7:26242204-26242205	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs375902099	chr7:26242216-26242217	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs570646658	chr7:26242225-26242226	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26233400-26242800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:26236200-26245200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:26236600-26243600	Active TSS	Right Ventricle	heart
4	chr7:26236800-26242600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:26237000-26243000	Active TSS	Ovary	ovary
6	chr7:26237000-26243600	Active TSS	Aorta	Aorta
7	chr7:26237000-26244400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:26237000-26245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:26237200-26242200	Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:26237200-26242400	Active TSS	Colonic Mucosa	Colon
11	chr7:26237200-26242800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr7:26237200-26243400	Active TSS	Fetal Muscle Leg	muscle
13	chr7:26237200-26244000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:26237200-26244400	Active TSS	Fetal Intestine Small	intestine
15	chr7:26237200-26244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:26237200-26245000	Active TSS	Thymus	Thymus
17	chr7:26237400-26242600	Active TSS	Brain Angular Gyrus	brain
18	chr7:26237400-26242600	Active TSS	Brain Anterior Caudate	brain
19	chr7:26237400-26242600	Active TSS	Brain Hippocampus Middle	brain
20	chr7:26237400-26242600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr7:26237400-26242600	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:26237400-26242600	Active TSS	Fetal Kidney	kidney
23	chr7:26237400-26242600	Active TSS	Stomach Smooth Muscle	stomach
24	chr7:26237400-26242600	Active TSS	NHLF	lung
25	chr7:26237400-26242800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:26237400-26243000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr7:26237400-26243000	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:26237400-26243400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:26237400-26244000	Active TSS	Duodenum Mucosa	Duodenum
30	chr7:26237400-26244000	Active TSS	Fetal Intestine Large	intestine
31	chr7:26237400-26244200	Active TSS	Fetal Stomach	stomach
32	chr7:26237400-26244200	Active TSS	Psoas Muscle	Psoas
33	chr7:26237400-26244600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr7:26237400-26244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:26237400-26244800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:26237600-26242200	Active TSS	Liver	Liver
37	chr7:26237600-26242400	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr7:26237600-26242400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:26237600-26242400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:26237600-26242400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:26237600-26242400	Active TSS	Adipose Nuclei	Adipose
42	chr7:26237600-26242400	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:26237600-26242400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:26237600-26242400	Active TSS	Brain Substantia Nigra	brain
45	chr7:26237600-26242400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr7:26237600-26242600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:26237600-26242600	Active TSS	Placenta	Placenta
48	chr7:26237600-26242600	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:26237600-26242600	Active TSS	Osteobl	bone
50	chr7:26237600-26242800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links