Variant report

Variant	esv3354398
Chromosome Location	chr7:32996277-32998775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:32997052-32997221	K562	blood:	n/a	n/a
2	BACH1	chr7:32996706-32997563	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr7:32996626-32998170	A549	lung:	n/a	chr7:32997495-32997504 chr7:32996820-32996829 chr7:32997559-32997568 chr7:32997799-32997808
4	BHLHE40	chr7:32997429-32997779	HepG2	liver:	n/a	chr7:32997584-32997597 chr7:32997586-32997595 chr7:32997587-32997596 chr7:32997586-32997595
5	BHLHE40	chr7:32996795-32997953	HepG2	liver:	n/a	chr7:32996925-32996941 chr7:32997584-32997597 chr7:32997586-32997595 chr7:32997587-32997596 chr7:32997586-32997595
6	BHLHE40	chr7:32997325-32997701	HepG2	liver:	n/a	chr7:32997584-32997597 chr7:32997586-32997595 chr7:32997587-32997596 chr7:32997586-32997595
7	BHLHE40	chr7:32996696-32997897	K562	blood:	n/a	chr7:32996925-32996941 chr7:32997584-32997597 chr7:32997586-32997595 chr7:32997587-32997596 chr7:32997586-32997595
8	BRCA1	chr7:32997702-32997902	HepG2	liver:	n/a	n/a
9	BRCA1	chr7:32996754-32997156	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr7:32997129-32997857	K562	blood:	n/a	n/a
11	CBX3	chr7:32996708-32997090	K562	blood:	n/a	n/a
12	CCNT2	chr7:32996720-32998028	K562	blood:	n/a	chr7:32997642-32997651
13	CEBPB	chr7:32997534-32997926	A549	lung:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
14	CEBPB	chr7:32997552-32998191	K562	blood:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
15	CEBPB	chr7:32996781-32998032	Hela-S3	cervix:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
16	CEBPB	chr7:32997487-32997910	H1-hESC	embryonic stem cell:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
17	CEBPB	chr7:32996786-32997922	HepG2	liver:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
18	CEBPB	chr7:32997549-32997966	K562	blood:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
19	CEBPB	chr7:32997319-32998116	A549	lung:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
20	CEBPB	chr7:32997542-32997965	HepG2	liver:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
21	CEBPB	chr7:32997272-32998016	MCF-7	breast:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
22	CEBPB	chr7:32997587-32997794	K562	blood:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
23	CEBPB	chr7:32997557-32997897	ECC-1	luminal epithelium:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
24	CEBPB	chr7:32997554-32998130	A549	lung:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
25	CEBPB	chr7:32997646-32997776	HepG2	liver:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
26	CEBPB	chr7:32997547-32998120	IMR90	lung:	n/a	chr7:32997730-32997741 chr7:32997732-32997741 chr7:32997730-32997743
27	CEBPD	chr7:32996696-32997820	HepG2	liver:	n/a	n/a
28	CEBPD	chr7:32996775-32997076	HepG2	liver:	n/a	n/a
29	CEBPD	chr7:32997231-32997663	HepG2	liver:	n/a	n/a
30	CHD1	chr7:32996627-32998367	IMR90	lung:	n/a	n/a
31	CHD2	chr7:32996737-32997753	HepG2	liver:	n/a	n/a
32	CHD2	chr7:32996719-32997761	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr7:32996724-32997453	K562	blood:	n/a	n/a
34	CHD2	chr7:32998103-32998406	Hela-S3	cervix:	n/a	n/a
35	CHD2	chr7:32997256-32997833	H1-hESC	embryonic stem cell:	n/a	n/a
36	CREB1	chr7:32996649-32997965	HepG2	liver:	n/a	n/a
37	CREB1	chr7:32996680-32997745	A549	lung:	n/a	n/a
38	CTBP2	chr7:32996703-32997809	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr7:32997340-32997490	AG04449	skin:	n/a	n/a
40	CTCF	chr7:32997260-32997410	NHEK	skin:	n/a	n/a
41	CTCF	chr7:32997429-32997435	MCF-7	breast:	n/a	n/a
42	CTCF	chr7:32997280-32997430	GM12873	blood:	n/a	n/a
43	CTCF	chr7:32996780-32996930	AG04449	skin:	n/a	n/a
44	CTCF	chr7:32997105-32997411	MCF-7	breast:	n/a	n/a
45	CTCF	chr7:32996875-32996915	MCF-7	breast:	n/a	n/a
46	CTCF	chr7:32998380-32998530	HMF	breast:	n/a	n/a
47	CTCF	chr7:32998380-32998530	NHEK	skin:	n/a	n/a
48	CTCF	chr7:32997260-32997410	GM12864	blood:	n/a	n/a
49	CTCF	chr7:32997288-32997427	MCF-7	breast:	n/a	n/a
50	CTCF	chr7:32997400-32997550	AG09309	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:32996733-32996783	HCPEpiC	choroid plexus:	n/a
2	chr7:32997190-32997240	NT2-D1	testis:	n/a
3	chr7:32996733-32996783	HCPEpiC	choroid plexus:	n/a
4	chr7:32997190-32997240	NT2-D1	testis:	n/a
5	chr7:32997590-32997640	HepG2	liver:	n/a
6	chr7:32997111-32997161	HRPEpiC	eye:	n/a
7	chr7:32996873-32996923	PANC-1	pancreas:	n/a
8	chr7:32996873-32996923	GM12892	blood:	n/a
9	chr7:32996873-32996923	NHDF-neo	bronchial:	n/a
10	chr7:32996733-32996783	SAEC	small airway:	n/a
11	chr7:32997590-32997640	HRPEpiC	eye:	n/a
12	chr7:32996816-32996866	SKMC	muscle:	n/a
13	chr7:32996869-32996919	HPAEpiC	pulmonary alveolar:	n/a
14	chr7:32996816-32996866	NH-A	brain:	n/a
15	chr7:32997190-32997240	GM19239	blood:	n/a
16	chr7:32997094-32997144	HMEC	breast:	n/a
17	chr7:32996733-32996783	AG04450	lung:	fetal
18	chr7:32997590-32997640	T-47D	breast:	n/a
19	chr7:32996816-32996866	RPTEC	kidney:	n/a
20	chr7:32996816-32996866	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:32997190-32997240	LNCaP	prostate:	n/a
22	chr7:32997590-32997640	CMK	blood:	n/a
23	chr7:32997590-32997640	GM12891	blood:	n/a
24	chr7:32997111-32997161	AG04449	skin:	fetal
25	chr7:32996733-32996783	HCT-116	colon:	n/a
26	chr7:32997659-32997709	GM12878	blood:	n/a
27	chr7:32996733-32996783	AG09309	skin:	n/a
28	chr7:32997111-32997161	SK-N-MC	brain:	n/a
29	chr7:32996816-32996866	GM06990	blood:	n/a
30	chr7:32997094-32997144	GM12892	blood:	n/a
31	chr7:32997590-32997640	Hela-S3	cervix:	n/a
32	chr7:32997111-32997161	ECC-1	luminal epithelium:	n/a
33	chr7:32997190-32997240	AG09309	skin:	n/a
34	chr7:32997659-32997709	AG04449	skin:	fetal
35	chr7:32997190-32997240	HepG2	liver:	n/a
36	chr7:32996873-32996923	GM06990	blood:	n/a
37	chr7:32996816-32996866	K562	blood:	n/a
38	chr7:32997590-32997640	ProgFib	skin:	n/a
39	chr7:32997111-32997161	HCT-116	colon:	n/a
40	chr7:32997111-32997161	HCPEpiC	choroid plexus:	n/a
41	chr7:32997190-32997240	HRCEpiC	kidney:	n/a
42	chr7:32996733-32996783	GM12878	blood:	n/a
43	chr7:32996829-32996879	T-47D	breast:	n/a
44	chr7:32996881-32996931	GM12892	blood:	n/a
45	chr7:32996733-32996783	Jurkat	blood:	n/a
46	chr7:32996816-32996866	SK-N-SH	brain:	n/a
47	chr7:32997111-32997161	HNPCEpiC	eye:	n/a
48	chr7:32997590-32997640	GM06990	blood:	n/a
49	chr7:32996881-32996931	AG09309	skin:	n/a
50	chr7:32997190-32997240	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:32995362..32998530-chr7:33097317..33102837,7	MCF-7	breast:
2	chr7:32995811..32998630-chr7:33147873..33150650,5	MCF-7	breast:
3	chr12:133264247..133264748-chr7:32996931..32997630,2	Hela-S3	cervix:
4	chr7:32928752..32933141-chr7:32994641..32998863,8	K562	blood:
5	chr22:50963472..50964178-chr7:32996987..32997953,2	Hela-S3	cervix:
6	chr7:32982489..32988008-chr7:32995538..32999914,10	MCF-7	breast:
7	chr20:2633017..2633602-chr7:32996418..32997034,2	HCT-116	colon:
8	chr10:134145019..134145665-chr7:32996612..32997131,2	Hela-S3	cervix:
9	chr7:32988824..32991717-chr7:32995412..32996950,2	MCF-7	breast:
10	chr7:32929839..32934078-chr7:32995806..32999171,10	MCF-7	breast:
11	chr7:32997687..32999563-chr7:33147479..33150290,2	K562	blood:
12	chr16:88923520..88924081-chr7:32996991..32997502,2	Hela-S3	cervix:
13	chr10:75006603..75007307-chr7:32996922..32997554,2	Hela-S3	cervix:
14	chr7:32997056..32997696-chrX:117479336..117480081,2	Hela-S3	cervix:
15	chr7:32929772..32933437-chr7:32994773..32998551,6	MCF-7	breast:
16	chr7:32929936..32932175-chr7:32996897..32998446,2	K562	blood:
17	chr7:32996658..32997591-chrX:23685231..23685895,2	Hela-S3	cervix:
18	chr3:156877587..156878503-chr7:32996960..32997569,2	Hela-S3	cervix:
19	chr7:32996816..32997512-chr7:33148545..33149076,2	Hela-S3	cervix:
20	chr7:32997465..32998398-chr9:139304529..139305102,2	Hela-S3	cervix:
21	chr7:32982709..32984575-chr7:32997023..32999117,2	K562	blood:
22	chr6:97371814..97372480-chr7:32997365..32997998,2	Hela-S3	cervix:
23	chr1:45986841..45987635-chr7:32997004..32997876,2	Hela-S3	cervix:
24	chr7:32989735..32994052-chr7:32995992..32998490,3	MCF-7	breast:
25	chr7:32989917..32992556-chr7:32995431..32996943,2	K562	blood:
26	chr6:159270909..159271734-chr7:32997213..32997774,2	Hela-S3	cervix:
27	chr7:32979720..32982452-chr7:32995227..32996993,2	MCF-7	breast:
28	chr10:71389270..71390191-chr7:32997343..32997869,2	HCT-116	colon:
29	chr1:205600552..205601275-chr7:32996850..32997837,2	Hela-S3	cervix:
30	chr7:32981007..32984575-chr7:32996149..32999305,3	K562	blood:
31	chr17:38474442..38474993-chr7:32996948..32997500,2	Hela-S3	cervix:
32	chr7:32996766..32998569-chr7:33027965..33030293,2	K562	blood:
33	chr11:64684613..64685147-chr7:32997032..32997702,2	Hela-S3	cervix:
34	chr20:46129538..46131406-chr7:32995757..32997764,2	MCF-7	breast:
35	chr6:2857804..2858647-chr7:32997103..32997825,2	Hela-S3	cervix:

Variant related genes	Relation type
FKBP9	TF binding region
FKBP9	CpG island
ENSG00000224573	chromatin interactions
ENSG00000170852	chromatin interactions
ENSG00000101361	chromatin interactions
ENSG00000163660	chromatin interactions
ENSG00000164610	chromatin interactions
ENSG00000167515	chromatin interactions
ENSG00000158711	chromatin interactions
ENSG00000171224	chromatin interactions
ENSG00000221062	chromatin interactions
ENSG00000165752	chromatin interactions
ENSG00000236756	chromatin interactions
ENSG00000205763	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000117450	chromatin interactions
ENSG00000068971	chromatin interactions
ENSG00000122642	chromatin interactions
ENSG00000130489	chromatin interactions
ENSG00000122643	chromatin interactions
ENSG00000165689	chromatin interactions
ENSG00000131725	chromatin interactions
ENSG00000110046	chromatin interactions
ENSG00000148814	chromatin interactions
ENSG00000256632	chromatin interactions
ENSG00000123131	chromatin interactions
ENSG00000131759	chromatin interactions

Extended variants
information (count: 92 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370894648	chr7:32996403-32996404	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs572910093	chr7:32996423-32996424	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs188020552	chr7:32996429-32996430	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs574529913	chr7:32996442-32996443	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs191331083	chr7:32996445-32996446	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs577233099	chr7:32996578-32996579	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs71559284	chr7:32996598-32996599	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs73103724	chr7:32996603-32996604	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs398004303	chr7:32996615-32996616	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs562681899	chr7:32996620-32996621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs187041562	chr7:32996636-32996637	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs111460875	chr7:32996666-32996667	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs560449887	chr7:32996673-32996674	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs191813157	chr7:32996687-32996688	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs552176947	chr7:32996690-32996691	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs570471844	chr7:32996703-32996704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs377491691	chr7:32996726-32996727	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs10238528	chr7:32996743-32996744	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs184982302	chr7:32996747-32996748	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs147306101	chr7:32996759-32996760	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs112820058	chr7:32996765-32996766	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs536403262	chr7:32996767-32996768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs554854247	chr7:32996798-32996799	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs573167567	chr7:32996893-32996894	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs544642374	chr7:32996917-32996918	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs576832534	chr7:32996924-32996925	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs558890171	chr7:32996992-32996993	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs13437907	chr7:32997029-32997030	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544683032	chr7:32997030-32997031	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
30	rs562587366	chr7:32997041-32997042	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
31	rs574685552	chr7:32997054-32997055	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
32	rs542003275	chr7:32997056-32997057	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
33	rs560468914	chr7:32997064-32997065	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
34	rs527552431	chr7:32997075-32997076	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
35	rs527879179	chr7:32997092-32997093	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
36	rs552240108	chr7:32997129-32997130	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
37	rs112083078	chr7:32997143-32997144	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
38	rs112888151	chr7:32997148-32997149	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
39	rs112700943	chr7:32997156-32997157	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
40	rs374533460	chr7:32997198-32997199	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
41	rs531355097	chr7:32997206-32997207	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
42	rs141020449	chr7:32997323-32997324	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs141599067	chr7:32997332-32997333	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
44	rs536465127	chr7:32997340-32997341	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
45	rs200043329	chr7:32997343-32997344	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs566852232	chr7:32997397-32997398	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs373970328	chr7:32997432-32997433	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs560746039	chr7:32997440-32997441	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
49	rs534206385	chr7:32997517-32997518	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs28432929	chr7:32997523-32997524	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:72)

Disease	PMID	Source
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
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
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:32988600-32996400	Weak transcription	Liver	Liver
2	chr7:32996000-32996400	Enhancers	Brain Substantia Nigra	brain
3	chr7:32996000-32996400	Enhancers	Duodenum Mucosa	Duodenum
4	chr7:32996000-32996400	Enhancers	Fetal Intestine Small	intestine
5	chr7:32996000-32996600	Enhancers	NHDF-Ad	bronchial
6	chr7:32996000-32996800	Enhancers	Spleen	Spleen
7	chr7:32996000-32997000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:32996000-32997400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:32996000-32997600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:32996200-32996400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr7:32996200-32996400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:32996200-32996400	Enhancers	Fetal Muscle Leg	muscle
13	chr7:32996200-32996400	Enhancers	Placenta	Placenta
14	chr7:32996200-32996400	Enhancers	Right Atrium	heart
15	chr7:32996200-32996400	Enhancers	HepG2	liver
16	chr7:32996200-32996400	Enhancers	HMEC	breast
17	chr7:32996200-32996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:32996200-32996600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:32996200-32996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:32996200-32996600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:32996200-32996600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:32996200-32996600	Enhancers	Esophagus	oesophagus
23	chr7:32996200-32996600	Enhancers	Fetal Muscle Trunk	muscle
24	chr7:32996200-32996600	Enhancers	Lung	lung
25	chr7:32996200-32996600	Enhancers	Pancreas	Pancrea
26	chr7:32996200-32996600	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr7:32996200-32996600	Enhancers	Stomach Mucosa	stomach
28	chr7:32996200-32996600	Enhancers	HUVEC	blood vessel
29	chr7:32996200-32997000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr7:32996200-32997200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:32996200-32997200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr7:32996200-32997600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:32996200-32997600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:32996200-32997600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:32996200-32997800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:32996200-32997800	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:32996200-32997800	Active TSS	Hela-S3	cervix
38	chr7:32996200-32998000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:32996200-32998000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:32996200-32998000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:32996200-32998000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:32996200-32998000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:32996200-32998000	Active TSS	Fetal Lung	lung
44	chr7:32996200-32998000	Active TSS	NH-A	brain
45	chr7:32996200-32998200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:32996200-32998200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:32996200-32998200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:32996200-32998200	Active TSS	HSMM	muscle
49	chr7:32996200-32998400	Active TSS	Rectal Smooth Muscle	rectum
50	chr7:32996200-32998400	Active TSS	HSMMtube	muscle

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