Variant report

Variant	nsv965652
Chromosome Location	chr6:80663704-80688769
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	CTCF	chr6:80678058-80678137	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr6:80684623-80684664	GM10248	blood:	n/a	n/a
3	E2F4	chr6:80674021-80674044	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr6:80681036-80681131	MCF10A-Er-Src	breast:	n/a	n/a
5	JUN	chr6:80673354-80673381	K562	blood:	n/a	n/a
6	JUN	chr6:80664063-80664101	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUN	chr6:80673142-80673200	H1-hESC	embryonic stem cell:	n/a	n/a
8	JUN	chr6:80674555-80674738	HepG2	liver:	n/a	chr6:80674622-80674631 chr6:80674621-80674634
9	JUND	chr6:80684626-80684869	HepG2	liver:	n/a	chr6:80684788-80684799
10	JUND	chr6:80670530-80670673	HepG2	liver:	n/a	n/a
11	JUND	chr6:80674503-80674779	HepG2	liver:	n/a	chr6:80674622-80674631
12	KAP1	chr6:80676799-80677367	HEK293	kidney:	n/a	n/a
13	KAP1	chr6:80676891-80677237	U2OS	brain:	n/a	n/a
14	MAFF	chr6:80680913-80681228	K562	blood:	n/a	chr6:80681056-80681074
15	MAFF	chr6:80680890-80681247	HepG2	liver:	n/a	chr6:80681056-80681074
16	MAFK	chr6:80680882-80681253	IMR90	lung:	n/a	chr6:80681058-80681073
17	MAFK	chr6:80680917-80681241	K562	blood:	n/a	chr6:80681058-80681073
18	MAFK	chr6:80680901-80681231	HepG2	liver:	n/a	chr6:80681058-80681073
19	MAFK	chr6:80680886-80681252	HepG2	liver:	n/a	chr6:80681058-80681073
20	MAFK	chr6:80680903-80681239	H1-hESC	embryonic stem cell:	n/a	chr6:80681058-80681073
21	MAFK	chr6:80680898-80681123	Hela-S3	cervix:	n/a	chr6:80681058-80681073
22	POLR2A	chr6:80684807-80684887	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:80680970-80681101	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr6:80677328-80677379	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr6:80683986-80684012	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr6:80675452-80675461	MCF-7	breast:	n/a	n/a
27	POLR2A	chr6:80675475-80675546	Gliobla	brain:	n/a	n/a
28	POLR2A	chr6:80675487-80675506	MCF-7	breast:	n/a	n/a
29	RFX5	chr6:80665172-80665339	K562	blood:	n/a	n/a
30	SETDB1	chr6:80676606-80677336	U2OS	brain:	n/a	n/a
31	SP1	chr6:80668817-80669002	HepG2	liver:	n/a	n/a
32	SPI1	chr6:80667866-80668067	GM12878	blood:	n/a	n/a
33	SPI1	chr6:80664552-80664990	HL-60	blood:	n/a	n/a
34	SPI1	chr6:80667935-80668054	K562	blood:	n/a	n/a
35	SPI1	chr6:80667923-80668074	GM12891	blood:	n/a	n/a
36	SPI1	chr6:80664538-80665040	HL-60	blood:	n/a	n/a
37	SPI1	chr6:80664657-80664843	K562	blood:	n/a	n/a
38	STAT3	chr6:80681077-80681244	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr6:80684601-80684717	MCF10A-Er-Src	breast:	n/a	n/a
40	TAL1	chr6:80664776-80664842	K562	blood:	n/a	n/a
41	ZBTB33	chr6:80668822-80668998	HepG2	liver:	n/a	n/a
42	ZNF143	chr6:80676922-80677242	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZNF384	chr6:80686999-80687052	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTK-2	chr6:80673932-80674236	NONHSAT113719

Variant related genes	Relation type
RPL35AP18	TF binding region
GAPDHP63	TF binding region

Extended variants
information (count: 845 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:845 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575153305	chr6:80663736-80663737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116734723	chr6:80663746-80663747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188224227	chr6:80663752-80663753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560744673	chr6:80663773-80663774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529876910	chr6:80663783-80663784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540306034	chr6:80663831-80663832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554130451	chr6:80663832-80663833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180977549	chr6:80663846-80663847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184632234	chr6:80663850-80663851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34488621	chr6:80663924-80663925	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs114071133	chr6:80663946-80663947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560919570	chr6:80663974-80663975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568880216	chr6:80663975-80663976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151672	chr6:80663978-80663979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9352786	chr6:80663979-80663980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35042288	chr6:80663980-80663981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558126726	chr6:80664049-80664050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374904650	chr6:80664070-80664071	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs148760678	chr6:80664086-80664087	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs568662627	chr6:80664096-80664097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534164088	chr6:80664158-80664159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181805346	chr6:80664165-80664166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571862219	chr6:80664219-80664220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386407679	chr6:80664236-80664237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10680803	chr6:80664237-80664238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201796190	chr6:80664244-80664245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200333517	chr6:80664263-80664264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570831530	chr6:80664274-80664275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150995200	chr6:80664292-80664293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186799252	chr6:80664297-80664298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550081314	chr6:80664303-80664304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576073244	chr6:80664312-80664313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537737148	chr6:80664321-80664322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139569255	chr6:80664374-80664375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574269660	chr6:80664379-80664380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570213454	chr6:80664416-80664417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540024825	chr6:80664509-80664510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191243881	chr6:80664547-80664548	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs114577791	chr6:80664562-80664563	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs545887772	chr6:80664565-80664566	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543491392	chr6:80664654-80664655	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149737298	chr6:80664730-80664731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs377249784	chr6:80664834-80664835	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs548886794	chr6:80664835-80664836	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs141107438	chr6:80664839-80664840	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146937980	chr6:80664842-80664843	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375043624	chr6:80664848-80664849	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs181345879	chr6:80664849-80664850	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs573464224	chr6:80664878-80664879	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs6915142	chr6:80664928-80664929	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:110)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80658000-80664200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr6:80659400-80664600	Weak transcription	Gastric	stomach
3	chr6:80663200-80664800	Weak transcription	Thymus	Thymus
4	chr6:80664600-80665200	Enhancers	Dnd41	blood
5	chr6:80664800-80665000	Enhancers	Thymus	Thymus
6	chr6:80665000-80673600	Weak transcription	Thymus	Thymus
7	chr6:80665200-80670000	Weak transcription	Dnd41	blood
8	chr6:80670000-80673800	Enhancers	Dnd41	blood
9	chr6:80671200-80671400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:80671400-80673200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:80672400-80676200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr6:80673000-80673400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:80673200-80677000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:80673400-80673800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr6:80673600-80673800	Enhancers	Thymus	Thymus
16	chr6:80673800-80674000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr6:80673800-80674400	Flanking Active TSS	Thymus	Thymus
18	chr6:80673800-80674800	Enhancers	Fetal Thymus	thymus
19	chr6:80673800-80676000	Flanking Active TSS	Dnd41	blood
20	chr6:80674000-80674200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:80674000-80674800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:80674200-80675000	Enhancers	Primary T cells from cord blood	blood
23	chr6:80674200-80675000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr6:80674200-80675200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:80674400-80675200	Active TSS	Thymus	Thymus
26	chr6:80674800-80675400	Flanking Active TSS	Fetal Thymus	thymus
27	chr6:80674800-80675600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:80674800-80676200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:80675000-80675600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr6:80675200-80675400	Flanking Active TSS	Thymus	Thymus
31	chr6:80675200-80675600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr6:80675400-80675800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:80675400-80676000	Enhancers	Fetal Thymus	thymus
34	chr6:80675400-80676400	Enhancers	Thymus	Thymus
35	chr6:80675600-80675800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr6:80676000-80676600	Enhancers	Dnd41	blood
37	chr6:80676200-80678600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:80676200-80679600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:80676600-80677600	ZNF genes & repeats	Dnd41	blood
40	chr6:80679600-80679800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
41	chr6:80679800-80680000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:80682600-80687800	Weak transcription	Fetal Thymus	thymus
43	chr6:80686600-80687000	Enhancers	Dnd41	blood
44	chr6:80687800-80696400	Enhancers	Fetal Thymus	thymus
45	chr6:80688200-80691200	Enhancers	Thymus	Thymus

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