Variant report

Variant	nsv1017553
Chromosome Location	chr8:7029978-7759581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3280)
CpG islands
(count:7390)
Chromatin interactive
region (count:4)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3280 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:7277768-7278018	K562	blood:	n/a	n/a
2	ATF1	chr8:7255409-7255636	K562	blood:	n/a	n/a
3	ATF1	chr8:7694221-7694565	K562	blood:	n/a	n/a
4	BACH1	chr8:7085606-7085806	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr8:7265686-7265994	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr8:7065286-7065896	GM12878	blood:	n/a	chr8:7065585-7065596
7	BATF	chr8:7105978-7106319	GM12878	blood:	n/a	n/a
8	BATF	chr8:7564517-7564858	GM12878	blood:	n/a	n/a
9	BATF	chr8:7215685-7216141	GM12878	blood:	n/a	n/a
10	BATF	chr8:7215669-7216199	GM12878	blood:	n/a	n/a
11	BATF	chr8:7744485-7744737	GM12878	blood:	n/a	n/a
12	BATF	chr8:7255357-7255599	GM12878	blood:	n/a	n/a
13	BATF	chr8:7448204-7448611	GM12878	blood:	n/a	n/a
14	BATF	chr8:7106013-7106321	GM12878	blood:	n/a	n/a
15	BATF	chr8:7212714-7213011	GM12878	blood:	n/a	n/a
16	BATF	chr8:7564552-7564860	GM12878	blood:	n/a	n/a
17	BATF	chr8:7281851-7282075	GM12878	blood:	n/a	n/a
18	BATF	chr8:7220356-7220781	GM12878	blood:	n/a	n/a
19	BATF	chr8:7448268-7448576	GM12878	blood:	n/a	n/a
20	BATF	chr8:7065329-7065744	GM12878	blood:	n/a	chr8:7065585-7065596
21	BCL11A	chr8:7537480-7537668	GM12878	blood:	n/a	n/a
22	BCL11A	chr8:7213997-7214166	GM12878	blood:	n/a	n/a
23	BCL11A	chr8:7468589-7468841	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:7554560-7554739	GM12878	blood:	n/a	chr8:7554682-7554695
25	BCL11A	chr8:7059717-7059897	GM12878	blood:	n/a	n/a
26	BCL11A	chr8:7215704-7215862	GM12878	blood:	n/a	n/a
27	BCL11A	chr8:7228613-7228840	GM12878	blood:	n/a	n/a
28	BCL11A	chr8:7096016-7096195	GM12878	blood:	n/a	chr8:7096138-7096151
29	BCL11A	chr8:7458367-7458546	GM12878	blood:	n/a	chr8:7458446-7458459
30	BCL11A	chr8:7212700-7212924	GM12878	blood:	n/a	n/a
31	BCL11A	chr8:7065268-7065674	GM12878	blood:	n/a	n/a
32	BCL11A	chr8:7078884-7079047	GM12878	blood:	n/a	n/a
33	BCL11A	chr8:7065285-7065931	GM12878	blood:	n/a	n/a
34	BCL11A	chr8:7220370-7220830	GM12878	blood:	n/a	n/a
35	BCL3	chr8:7199106-7199270	GM12878	blood:	n/a	chr8:7199138-7199147
36	BHLHE40	chr8:7744443-7744699	HepG2	liver:	n/a	n/a
37	BHLHE40	chr8:7212724-7213120	K562	blood:	n/a	n/a
38	BHLHE40	chr8:7212714-7213011	GM12878	blood:	n/a	n/a
39	BHLHE40	chr8:7468640-7468924	HepG2	liver:	n/a	chr8:7468879-7468895
40	BHLHE40	chr8:7079428-7079694	HepG2	liver:	n/a	chr8:7079551-7079567
41	BRCA1	chr8:7255419-7255821	H1-hESC	embryonic stem cell:	n/a	n/a
42	BRCA1	chr8:7212733-7213463	GM12878	blood:	n/a	n/a
43	CBX3	chr8:7656542-7657115	K562	blood:	n/a	n/a
44	CBX3	chr8:7641140-7641830	K562	blood:	n/a	n/a
45	CBX3	chr8:7378825-7379598	K562	blood:	n/a	n/a
46	CBX3	chr8:7656260-7657147	K562	blood:	n/a	n/a
47	CBX3	chr8:7378829-7379412	K562	blood:	n/a	n/a
48	CBX3	chr8:7641288-7641775	K562	blood:	n/a	n/a
49	CBX3	chr8:7394220-7394817	K562	blood:	n/a	n/a
50	CEBPB	chr8:7252439-7252682	HepG2	liver:	n/a	chr8:7252592-7252609

(count:7390 , 50 per page) page: 1 2 3 4 5 6 7 ... 148

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:7622631-7622681	AG04449	skin:	fetal
2	chr8:7085814-7085864	T-47D	breast:	n/a
3	chr8:7706073-7706123	CMK	blood:	n/a
4	chr8:7221471-7221521	HRPEpiC	eye:	n/a
5	chr8:7155225-7155275	HAEpiC	amniotic membrane:	n/a
6	chr8:7113417-7113467	MCF10A-Er-Src	breast:	n/a
7	chr8:7308492-7308542	T-47D	breast:	n/a
8	chr8:7599371-7599421	GM12878	blood:	n/a
9	chr8:7753688-7753738	HRE	kidney:	n/a
10	chr8:7622631-7622681	AG04449	skin:	fetal
11	chr8:7085814-7085864	T-47D	breast:	n/a
12	chr8:7706073-7706123	CMK	blood:	n/a
13	chr8:7221471-7221521	HRPEpiC	eye:	n/a
14	chr8:7155225-7155275	HAEpiC	amniotic membrane:	n/a
15	chr8:7113417-7113467	MCF10A-Er-Src	breast:	n/a
16	chr8:7308492-7308542	T-47D	breast:	n/a
17	chr8:7599371-7599421	GM12878	blood:	n/a
18	chr8:7753688-7753738	HRE	kidney:	n/a
19	chr8:7434939-7434989	IMR90	lung:	fetal
20	chr8:7151550-7151600	NB4	blood:	n/a
21	chr8:7332846-7332896	AG09319	gingival:	n/a
22	chr8:7406299-7406349	HMEC	breast:	n/a
23	chr8:7189580-7189630	GM19239	blood:	n/a
24	chr8:7305465-7305515	HMEC	breast:	n/a
25	chr8:7332257-7332307	A549	lung:	n/a
26	chr8:7434939-7434989	PFSK-1	brain:	n/a
27	chr8:7631469-7631519	NHBE	bronchial:	n/a
28	chr8:7599376-7599426	K562	blood:	n/a
29	chr8:7213526-7213576	HCF	heart:	n/a
30	chr8:7192145-7192195	SK-N-SH	brain:	n/a
31	chr8:7153685-7153735	HAEpiC	amniotic membrane:	n/a
32	chr8:7624842-7624892	HEEpiC	esophagus:	n/a
33	chr8:7157397-7157447	AG10803	skin:	n/a
34	chr8:7622631-7622681	ECC-1	luminal epithelium:	n/a
35	chr8:7213526-7213576	NH-A	brain:	n/a
36	chr8:7657022-7657072	HUVEC	blood vessel:	n/a
37	chr8:7682131-7682181	HMEC	breast:	n/a
38	chr8:7651924-7651974	NB4	blood:	n/a
39	chr8:7320520-7320570	HEK293	kidney:	embryo
40	chr8:7599371-7599421	BE2_C	brain:	n/a
41	chr8:7404876-7404926	IMR90	lung:	fetal
42	chr8:7446628-7446678	GM19239	blood:	n/a
43	chr8:7671497-7671547	HMEC	breast:	n/a
44	chr8:7144084-7144134	PFSK-1	brain:	n/a
45	chr8:7191273-7191323	GM12892	blood:	n/a
46	chr8:7539931-7539981	HNPCEpiC	eye:	n/a
47	chr8:7208812-7208862	BE2_C	brain:	n/a
48	chr8:7332257-7332307	BJ	skin:	n/a
49	chr8:7333711-7333761	CMK	blood:	n/a
50	chr8:7625446-7625496	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr8:7079344..7079857-chr8:7537961..7538472,3	MCF-7	breast:
2	chr8:7079344..7079857-chr8:7537961..7538472,3	MCF-7	breast:
3	chr12:8332362..8333276-chr8:7212481..7212992,2	MCF-7	breast:
4	chr8:7255181..7256067-chr8:7770740..7771265,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB104B-1	chr8:7334988-7335170	XLOC_006991
2	lnc-ZNF705G-1	chr8:7206593-7206668	NONHSAT124826
3	lnc-DEFB104B-1	chr8:7333626-7334120	XLOC_006991
4	lnc-ZNF705G-1	chr8:7181819-7181886	NONHSAT124824
5	lnc-DEFB105B-3	chr8:7170368-7170425	NONHSAT124823
6	lnc-ZNF705G-1	chr8:7212333-7212511	NONHSAT124824
7	lnc-ZNF705G-1	chr8:7182344-7182411	NONHSAT124824
8	lnc-ZNF705G-1	chr8:7182659-7182720	NONHSAT124824
9	lnc-DEFB105A-1	chr8:7748525-7750077	NONHSAT124838
10	lnc-ZNF705G-1	chr8:7206605-7206668	NONHSAT124824
11	lnc-DEFB105B-1	chr8:7230636-7230723	NONHSAT124827
12	lnc-DEFB105B-3	chr8:7177268-7177473	NONHSAT124823
13	lnc-DEFB105B-4	chr8:7043806-7044422	NONHSAT124814
14	lnc-ZNF705G-1	chr8:7212333-7212574	NONHSAT124826
15	lnc-DEFB105B-1	chr8:7234859-7235022	NONHSAT124827
16	lnc-DEFB104B-1	chr8:7337502-7337622	XLOC_006991
17	lnc-DEFB104B-1	chr8:7334999-7335170	XLOC_006991
18	lnc-ZNF705G-1	chr8:7180835-7180882	NONHSAT124824

No data

Variant related genes	Relation type
DEFB108P2	TF binding region
DEFB107A	TF binding region
FAM90A13P	TF binding region
FAM90A5P	TF binding region
SPAG11B	TF binding region
FAM90A7P	TF binding region
OR7E157P	TF binding region
FAM90A14P	TF binding region
ZNF705G	TF binding region
FAM90A19P	TF binding region
DEFB103A	TF binding region
FAM90A20P	TF binding region
DEFB109P1B	TF binding region
DEFB104A	TF binding region
OR7E154P	TF binding region
ENSG00000231930	TF binding region
FAM90A9P	TF binding region
ENSG00000235778	TF binding region
ENSG00000254889	TF binding region
OR7E125P	TF binding region
ENSG00000254776	TF binding region
FAM90A23P	TF binding region
DEFB4B	TF binding region
ENSG00000221567	TF binding region
ENSG00000254796	TF binding region
FAM66B	TF binding region
FAM90A22P	TF binding region
DEFB105A	TF binding region
DEFB106B	TF binding region
DEFB104B	TF binding region
FAM90A6P	TF binding region
ENSG00000216194	TF binding region
HSPD1P2	TF binding region
ENSG00000255025	TF binding region
FAM90A3P	TF binding region
PRR23D2	TF binding region
RPS3AP33	TF binding region
FAM90A21P	TF binding region
FAM90A10P	TF binding region
ENSG00000215977	TF binding region
USP17L1P	TF binding region
USP17L4	TF binding region
PRR23D1	TF binding region
FAM90A4P	TF binding region
DEFB4A	TF binding region
FAM90A18P	TF binding region
FAM90A16P	TF binding region
FAM90A8P	TF binding region
DEFB105B	TF binding region
DEFB107B	TF binding region
HSPD1P3	TF binding region
DEFB106A	TF binding region
SPAG11A	TF binding region
DEFB103B	TF binding region
FAM90A15P	TF binding region
FAM90A17P	TF binding region
DEFB108P2	CpG island
DEFB107A	CpG island
FAM90A13P	CpG island
FAM90A5P	CpG island
SPAG11B	CpG island
FAM90A7P	CpG island
OR7E157P	CpG island
FAM90A14P	CpG island
ZNF705G	CpG island
FAM90A19P	CpG island
DEFB103A	CpG island
FAM90A20P	CpG island
DEFB109P1B	CpG island
DEFB104A	CpG island
OR7E154P	CpG island
ENSG00000231930	CpG island
FAM90A9P	CpG island
ENSG00000235778	CpG island
ENSG00000254889	CpG island
OR7E125P	CpG island
ENSG00000254776	CpG island
FAM90A23P	CpG island
DEFB4B	CpG island
ENSG00000221567	CpG island
ENSG00000254796	CpG island
FAM66B	CpG island
FAM90A22P	CpG island
DEFB105A	CpG island
DEFB106B	CpG island
DEFB104B	CpG island
FAM90A6P	CpG island
ENSG00000216194	CpG island
HSPD1P2	CpG island
ENSG00000255025	CpG island
FAM90A3P	CpG island
PRR23D2	CpG island
RPS3AP33	CpG island
FAM90A21P	CpG island
FAM90A10P	CpG island
ENSG00000215977	CpG island
USP17L1P	CpG island
USP17L4	CpG island
PRR23D1	CpG island
FAM90A4P	CpG island
DEFB4A	CpG island
FAM90A18P	CpG island
FAM90A16P	CpG island
FAM90A8P	CpG island
DEFB105B	CpG island
DEFB107B	CpG island
HSPD1P3	CpG island
DEFB106A	CpG island
SPAG11A	CpG island
DEFB103B	CpG island
FAM90A15P	CpG island
FAM90A17P	CpG island
ENSG00000226711	chromatin interactions
JARID2	miRNA target sites

Extended variants
information (count: 4193 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:4193 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576119615	chr8:7043823-7043824	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs546964992	chr8:7043857-7043858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183140023	chr8:7043886-7043887	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs541802979	chr8:7043903-7043904	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs201879632	chr8:7043904-7043905	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs527426029	chr8:7043911-7043912	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs547444655	chr8:7043950-7043951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs572187013	chr8:7044001-7044002	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs564544704	chr8:7044004-7044005	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533532026	chr8:7044005-7044006	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs186763058	chr8:7044024-7044025	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs191822043	chr8:7044034-7044035	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs569968655	chr8:7044062-7044063	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529539038	chr8:7044082-7044083	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs549005589	chr8:7044102-7044103	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs80191292	chr8:7044104-7044105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs565721580	chr8:7044118-7044119	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534836087	chr8:7044122-7044123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558204487	chr8:7044150-7044151	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs370973102	chr8:7044191-7044192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs375665231	chr8:7044192-7044193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570570712	chr8:7044265-7044266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs539582047	chr8:7044268-7044269	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556190717	chr8:7044269-7044270	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs576453058	chr8:7044290-7044291	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs542138330	chr8:7044404-7044405	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs555428597	chr8:7044413-7044414	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs368702880	chr8:7044414-7044415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs540782675	chr8:7044415-7044416	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs368172824	chr8:7049373-7049374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538559407	chr8:7051078-7051079	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs555267310	chr8:7051131-7051132	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs542477899	chr8:7052805-7052806	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs568819411	chr8:7052908-7052909	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs376532778	chr8:7052917-7052918	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs534499148	chr8:7052924-7052925	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs553915065	chr8:7052935-7052936	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs577148635	chr8:7052985-7052986	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs539573276	chr8:7052993-7052994	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs370142292	chr8:7053032-7053033	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs556207758	chr8:7053033-7053034	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs562232687	chr8:7053059-7053060	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs62489698	chr8:7053232-7053233	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs540497876	chr8:7053243-7053244	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs559913551	chr8:7053277-7053278	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs532098031	chr8:7053357-7053358	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs57426171	chr8:7053391-7053392	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs59374449	chr8:7053414-7053415	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs562521594	chr8:7053416-7053417	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs189240937	chr8:7053433-7053434	Inactive region	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Incontinentia Pigmenti	22033527	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20369283	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	23813976	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Developmental disorder	20461109	CNVD
Pancreatic cancer	17952125	CNVD
Crohn''s disease	17953491	CNVD
Immune disease	21076436	CNVD
Crohn''s disease	21956041	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	22302058	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:7078600-7079600	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:7078800-7079000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr8:7078800-7079000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:7078800-7079600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:7078800-7079600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:7078800-7079600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:7078800-7079600	Active TSS	Fetal Brain Female	brain
8	chr8:7078800-7079600	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr8:7078800-7079600	Active TSS	Thymus	Thymus
10	chr8:7079000-7079200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr8:7079000-7079600	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr8:7079000-7079600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:7079000-7079600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:7079000-7079600	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:7079000-7079600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:7079000-7079600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:7079000-7079600	Active TSS	Brain Cingulate Gyrus	brain
18	chr8:7079000-7079600	Active TSS	Brain Hippocampus Middle	brain
19	chr8:7079000-7079600	Active TSS	Fetal Muscle Trunk	muscle
20	chr8:7079200-7079400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:7079200-7079600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr8:7079200-7079600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:7079200-7079600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:7079200-7079600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:7079200-7079600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr8:7079200-7079600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:7079200-7079600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:7079200-7079600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr8:7079200-7079600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:7079200-7079600	Active TSS	Brain Anterior Caudate	brain
31	chr8:7079200-7079600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr8:7079200-7079600	Active TSS	Colonic Mucosa	Colon
33	chr8:7079200-7079600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr8:7079200-7079600	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr8:7079200-7079600	Active TSS	Ovary	ovary
36	chr8:7079200-7079600	Active TSS	Pancreas	Pancrea
37	chr8:7079200-7079600	Active TSS	Psoas Muscle	Psoas
38	chr8:7079200-7079600	Active TSS	Right Atrium	heart
39	chr8:7079200-7079600	Active TSS	Stomach Smooth Muscle	stomach
40	chr8:7079400-7079600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:7079600-7085400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:7085200-7085800	Active TSS	Dnd41	blood
43	chr8:7085400-7085600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr8:7085400-7085600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:7085400-7085600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:7085400-7085600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr8:7085400-7085600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr8:7085400-7085600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:7085400-7085600	Enhancers	Fetal Muscle Leg	muscle
50	chr8:7085400-7085600	Bivalent Enhancer	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links