Variant report

Variant	nsv890827
Chromosome Location	chr8:39378400-39429071
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	chr8:39424300-39424895	HepG2	liver:	n/a	chr8:39424646-39424662
2	ARID3A	chr8:39391480-39391748	K562	blood:	n/a	n/a
3	ARID3A	chr8:39393079-39393534	K562	blood:	n/a	n/a
4	ATF1	chr8:39393057-39393338	K562	blood:	n/a	n/a
5	ATF3	chr8:39390540-39390824	K562	blood:	n/a	n/a
6	BHLHE40	chr8:39379884-39380110	K562	blood:	n/a	n/a
7	BHLHE40	chr8:39393076-39393265	K562	blood:	n/a	n/a
8	CBX3	chr8:39403680-39403937	K562	blood:	n/a	n/a
9	CBX3	chr8:39392968-39393340	K562	blood:	n/a	n/a
10	CCNT2	chr8:39390615-39390831	K562	blood:	n/a	n/a
11	CCNT2	chr8:39379762-39380551	K562	blood:	n/a	n/a
12	CEBPB	chr8:39390600-39390943	K562	blood:	n/a	n/a
13	CEBPB	chr8:39393043-39393343	K562	blood:	n/a	n/a
14	CEBPB	chr8:39393010-39393254	K562	blood:	n/a	n/a
15	CEBPB	chr8:39417741-39418065	HepG2	liver:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
16	CEBPB	chr8:39417791-39417944	K562	blood:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
17	CEBPB	chr8:39391451-39391754	IMR90	lung:	n/a	chr8:39391593-39391604
18	CEBPB	chr8:39425240-39425556	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr8:39391427-39391768	K562	blood:	n/a	chr8:39391593-39391604
20	CEBPB	chr8:39390555-39390826	K562	blood:	n/a	n/a
21	CEBPB	chr8:39417758-39418058	IMR90	lung:	n/a	chr8:39417873-39417884 chr8:39417830-39417841
22	CEBPB	chr8:39392971-39393463	K562	blood:	n/a	n/a
23	CEBPB	chr8:39391429-39391709	HepG2	liver:	n/a	chr8:39391593-39391604
24	CEBPD	chr8:39390559-39390864	K562	blood:	n/a	n/a
25	CEBPD	chr8:39392925-39393295	K562	blood:	n/a	n/a
26	CEBPD	chr8:39392946-39393345	K562	blood:	n/a	n/a
27	CEBPD	chr8:39390527-39390847	K562	blood:	n/a	n/a
28	CTCF	chr8:39411067-39411208	Spleen_OC	spleen:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
29	CTCF	chr8:39411115-39411205	GM20000	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
30	CTCF	chr8:39410933-39411240	T-47D	breast:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
31	CTCF	chr8:39411060-39411210	Caco-2	colon:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
32	CTCF	chr8:39411020-39411170	GM12878	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
33	CTCF	chr8:39410963-39411401	MCF-7	breast:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
34	CTCF	chr8:39411092-39411205	GM19239	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
35	CTCF	chr8:39411140-39411290	GM06990	blood:	n/a	chr8:39411141-39411149 chr8:39411141-39411154 chr8:39411141-39411154
36	CTCF	chr8:39412865-39412900	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr8:39411031-39411205	A549	lung:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
38	CTCF	chr8:39411060-39411210	SK-N-SH_RA	brain:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
39	CTCF	chr8:39411042-39411231	A549	lung:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
40	CTCF	chr8:39411089-39411221	GM13977	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
41	CTCF	chr8:39411080-39411230	GM12871	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
42	CTCF	chr8:39411060-39411210	GM12872	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
43	CTCF	chr8:39411100-39411250	HepG2	liver:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
44	CTCF	chr8:39411080-39411230	HCT-116	colon:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
45	CTCF	chr8:39411060-39411210	HEEpiC	esophagus:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
46	CTCF	chr8:39410957-39411226	H1-hESC	embryonic stem cell:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
47	CTCF	chr8:39411039-39411234	LNCaP	prostate:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
48	CTCF	chr8:39411080-39411230	GM12872	blood:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154
49	CTCF	chr8:39411000-39411150	Hela-S3	cervix:	n/a	chr8:39411141-39411149
50	CTCF	chr8:39411025-39411236	ECC-1	luminal epithelium:	n/a	chr8:39411141-39411149 chr8:39411138-39411156 chr8:39411141-39411154 chr8:39411141-39411154

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:39380435-39380485	BJ	skin:	n/a
2	chr8:39380341-39380391	IMR90	lung:	fetal
3	chr8:39380592-39380642	BE2_C	brain:	n/a
4	chr8:39380341-39380391	HRPEpiC	eye:	n/a
5	chr8:39380435-39380485	Hela-S3	cervix:	n/a
6	chr8:39380592-39380642	Jurkat	blood:	n/a
7	chr8:39380435-39380485	GM12892	blood:	n/a
8	chr8:39380341-39380391	U87	brain:	n/a
9	chr8:39380592-39380642	GM12892	blood:	n/a
10	chr8:39380435-39380485	AG04450	lung:	fetal
11	chr8:39380435-39380485	HL-60	blood:	n/a
12	chr8:39380435-39380485	HRE	kidney:	n/a
13	chr8:39380435-39380485	ECC-1	luminal epithelium:	n/a
14	chr8:39380341-39380391	HRCEpiC	kidney:	n/a
15	chr8:39380341-39380391	HCPEpiC	choroid plexus:	n/a
16	chr8:39380435-39380485	SAEC	small airway:	n/a
17	chr8:39380592-39380642	AG10803	skin:	n/a
18	chr8:39380435-39380485	HMEC	breast:	n/a
19	chr8:39380592-39380642	Hepatocyte	liver:	n/a
20	chr8:39380592-39380642	HRCEpiC	kidney:	n/a
21	chr8:39380435-39380485	AG09309	skin:	n/a
22	chr8:39380592-39380642	GM12878	blood:	n/a
23	chr8:39380341-39380391	RPTEC	kidney:	n/a
24	chr8:39380435-39380485	U87	brain:	n/a
25	chr8:39380435-39380485	HRPEpiC	eye:	n/a
26	chr8:39380341-39380391	GM06990	blood:	n/a
27	chr8:39380341-39380391	ProgFib	skin:	n/a
28	chr8:39380341-39380391	HNPCEpiC	eye:	n/a
29	chr8:39380435-39380485	AoSMC	blood vessel:	n/a
30	chr8:39380341-39380391	HCM	heart:	n/a
31	chr8:39380435-39380485	HCT-116	colon:	n/a
32	chr8:39380341-39380391	CMK	blood:	n/a
33	chr8:39380592-39380642	K562	blood:	n/a
34	chr8:39380341-39380391	AG04450	lung:	fetal
35	chr8:39380592-39380642	Caco-2	colon:	n/a
36	chr8:39380341-39380391	BE2_C	brain:	n/a
37	chr8:39380341-39380391	GM12892	blood:	n/a
38	chr8:39380592-39380642	HMEC	breast:	n/a
39	chr8:39380435-39380485	HEK293	kidney:	embryo
40	chr8:39380592-39380642	MCF10A-Er-Src	breast:	n/a
41	chr8:39380592-39380642	CMK	blood:	n/a
42	chr8:39380435-39380485	RPTEC	kidney:	n/a
43	chr8:39380592-39380642	ovcar-3	ovarian:	n/a
44	chr8:39380592-39380642	NT2-D1	testis:	n/a
45	chr8:39380592-39380642	IMR90	lung:	fetal
46	chr8:39380435-39380485	MCF-7	breast:	n/a
47	chr8:39380341-39380391	MCF10A-Er-Src	breast:	n/a
48	chr8:39380341-39380391	LNCaP	prostate:	n/a
49	chr8:39380592-39380642	AG09309	skin:	n/a
50	chr8:39380592-39380642	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:39410685..39412216-chr8:39708899..39710030,6	MCF-7	breast:
2	chr8:39382256..39384894-chr8:39388828..39390534,2	K562	blood:
3	chr8:39383877..39386094-chr8:39398092..39400099,2	K562	blood:
4	chr8:39382256..39384894-chr8:39388828..39390534,2	K562	blood:
5	chr8:39381512..39383756-chr8:39389034..39392927,3	K562	blood:
6	chr8:39179668..39181798-chr8:39380661..39383115,2	K562	blood:
7	chr8:39410966..39411938-chr8:39709121..39709647,2	MCF-7	breast:
8	chr8:39381512..39383756-chr8:39389034..39392927,3	K562	blood:
9	chr8:39383877..39386094-chr8:39398092..39400099,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM2-6	chr8:39379779-39379861	NONHSAT126168
2	lnc-ADAM18-2	chr8:39412110-39413320	NONHSAT126172
3	lnc-ADAM18-1	chr8:39424225-39424336	NONHSAT126174
4	lnc-ADAM18-2	chr8:39415511-39415698	NONHSAT126172
5	lnc-ADAM2-6	chr8:39380272-39380344	NONHSAT126168
6	lnc-ADAM18-1	chr8:39420631-39420645	NONHSAT126174
7	lnc-ADAM2-6	chr8:39380272-39380508	NONHSAT126165
8	lnc-ADAM18-2	chr8:39413665-39413968	NONHSAT126172
9	lnc-ADAM2-6	chr8:39380272-39380508	NONHSAT126166
10	lnc-ADAM18-1	chr8:39424224-39424336	NONHSAT126175
11	lnc-ADAM18-2	chr8:39415865-39416173	NONHSAT126172
12	lnc-ADAM2-6	chr8:39380272-39380371	NONHSAT126169
13	lnc-ADAM2-6	chr8:39380272-39380508	NONHSAT126163
14	lnc-ADAM2-6	chr8:39380272-39380508	NONHSAT126164
15	lnc-ADAM18-1	chr8:39424224-39424336	ENSG00000254082
16	lnc-ADAM2-6	chr8:39380272-39380390	NONHSAT126171

Variant related genes	Relation type
ENSG00000252176	TF binding region
ENSG00000254067	TF binding region
ENSG00000254082	TF binding region
ADAM3A	TF binding region
ENSG00000252176	CpG island
ENSG00000254067	CpG island
ENSG00000254082	CpG island
ADAM3A	CpG island
ENSG00000196115	chromatin interactions

Extended variants
information (count: 1406 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7462677	chr8:39378400-39378401	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553191475	chr8:39378404-39378405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566803629	chr8:39378413-39378414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535721297	chr8:39378415-39378416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115847292	chr8:39378438-39378439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575508827	chr8:39378465-39378466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376554614	chr8:39378538-39378539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367928159	chr8:39378539-39378540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372176501	chr8:39378540-39378541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376555706	chr8:39378541-39378542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11482894	chr8:39378542-39378543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578049875	chr8:39379647-39379648	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533994122	chr8:39379716-39379717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376066434	chr8:39379731-39379732	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs563469199	chr8:39379754-39379755	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs573846811	chr8:39379775-39379776	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368643417	chr8:39379824-39379825	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
18	rs542807187	chr8:39379831-39379832	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113362431	chr8:39379834-39379835	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
20	rs549741669	chr8:39379856-39379857	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
21	rs71237173	chr8:39379985-39379986	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs189335320	chr8:39379995-39379996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115811369	chr8:39380030-39380031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs575229332	chr8:39380059-39380060	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146086173	chr8:39380093-39380094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs77577458	chr8:39380126-39380127	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs79194543	chr8:39380134-39380135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533079043	chr8:39380140-39380141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543044836	chr8:39380205-39380206	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs147777660	chr8:39380254-39380255	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs73674587	chr8:39380257-39380258	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549153582	chr8:39380279-39380280	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs141156403	chr8:39380308-39380309	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs538114283	chr8:39380313-39380314	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs551498955	chr8:39380314-39380315	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs571267073	chr8:39380328-39380329	Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs534029007	chr8:39380354-39380355	Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs7341671	chr8:39380396-39380397	Active TSS	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180776500	chr8:39380441-39380442	Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs536481755	chr8:39380443-39380444	Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs556697257	chr8:39380471-39380472	Active TSS	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs547123667	chr8:39380490-39380491	Active TSS	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs143438796	chr8:39380576-39380577	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs74562221	chr8:39380655-39380656	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148018918	chr8:39380666-39380667	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116900755	chr8:39380676-39380677	Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs539087794	chr8:39380727-39380728	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs550659814	chr8:39380728-39380729	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570928101	chr8:39380729-39380730	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560331270	chr8:39380756-39380757	Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Cancer	20164919	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Cancer	21249187	CNVD
Autism	19287141	CNVD
Rett syndrome	21593744	CNVD
Recurrent pregnancy loss	19789632	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:39378200-39378600	Enhancers	Fetal Lung	lung
2	chr8:39379600-39381800	Active TSS	K562	blood
3	chr8:39380200-39380600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:39381800-39392400	Weak transcription	K562	blood
5	chr8:39390200-39390400	Enhancers	Fetal Intestine Large	intestine
6	chr8:39390200-39390600	Enhancers	Fetal Intestine Small	intestine
7	chr8:39390400-39390600	Enhancers	Fetal Heart	heart
8	chr8:39390400-39391600	Weak transcription	Fetal Intestine Large	intestine
9	chr8:39391400-39391600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr8:39391400-39392400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:39391600-39394000	Enhancers	Fetal Intestine Large	intestine
12	chr8:39391600-39395800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:39392400-39392600	Enhancers	Fetal Intestine Small	intestine
14	chr8:39392400-39393000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:39392400-39393200	Enhancers	K562	blood
16	chr8:39392400-39393400	Enhancers	Fetal Heart	heart
17	chr8:39393000-39394200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:39401400-39404800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:39404800-39405600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:39405600-39412400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:39412400-39412600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:39412400-39413200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
23	chr8:39412600-39417200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:39416400-39418200	Enhancers	Fetal Intestine Large	intestine
25	chr8:39416600-39417000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr8:39417000-39417200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:39417000-39417600	Enhancers	Placenta	Placenta
28	chr8:39417200-39417400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:39419000-39419200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:39419200-39419400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:39424200-39425000	Enhancers	HepG2	liver
32	chr8:39425000-39425800	Weak transcription	HepG2	liver
33	chr8:39425800-39426000	Enhancers	Placenta	Placenta
34	chr8:39425800-39426000	Enhancers	HepG2	liver
35	chr8:39426000-39434200	Weak transcription	Placenta	Placenta
36	chr8:39427800-39428000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:39428000-39434000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links