Variant report

Variant	nsv818423
Chromosome Location	chr6:66157091-66187107
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	ATF1	chr6:66171007-66171493	K562	blood:	n/a	n/a
2	ATF1	chr6:66160376-66160599	K562	blood:	n/a	n/a
3	CCNT2	chr6:66171045-66171349	K562	blood:	n/a	n/a
4	CEBPB	chr6:66156754-66157125	HepG2	liver:	n/a	chr6:66157101-66157114
5	CEBPD	chr6:66171023-66171458	K562	blood:	n/a	n/a
6	CTCF	chr6:66157600-66157750	BE2_C	brain:	n/a	n/a
7	CTCF	chr6:66157717-66157767	LNCaP	prostate:	n/a	n/a
8	CTCF	chr6:66157620-66157770	Caco-2	colon:	n/a	n/a
9	CTCF	chr6:66157563-66157836	MCF-7	breast:	n/a	n/a
10	CTCF	chr6:66157640-66157790	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr6:66157500-66157650	MCF-7	breast:	n/a	n/a
12	CTCF	chr6:66157626-66157803	MCF-7	breast:	n/a	n/a
13	CTCF	chr6:66157685-66157759	LNCaP	prostate:	n/a	n/a
14	CTCF	chr6:66157771-66157802	LNCaP	prostate:	n/a	n/a
15	CTCF	chr6:66157720-66157870	MCF-7	breast:	n/a	n/a
16	CTCF	chr6:66157644-66157761	MCF-7	breast:	n/a	n/a
17	CTCF	chr6:66157678-66157758	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr6:66157620-66157770	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr6:66157560-66157710	BE2_C	brain:	n/a	n/a
20	CUX1	chr6:66170915-66171409	K562	blood:	n/a	n/a
21	EP300	chr6:66171008-66171473	K562	blood:	n/a	n/a
22	FOS	chr6:66157443-66157925	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr6:66171113-66171444	HUVEC	blood vessel:	n/a	chr6:66171237-66171248
24	FOS	chr6:66170472-66170571	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr6:66157529-66157688	MCF10A-Er-Src	breast:	n/a	n/a
26	GATA2	chr6:66171014-66171441	K562	blood:	n/a	n/a
27	GATA2	chr6:66157439-66157874	HUVEC	blood vessel:	n/a	n/a
28	GATA2	chr6:66158889-66159302	HUVEC	blood vessel:	n/a	chr6:66159128-66159138
29	GATA3	chr6:66164884-66165004	SH-SY5Y	brain:	n/a	n/a
30	IRF1	chr6:66173428-66173429	K562	blood:	n/a	n/a
31	IRF1	chr6:66179730-66179740	K562	blood:	n/a	n/a
32	IRF1	chr6:66171064-66171315	K562	blood:	n/a	n/a
33	JUN	chr6:66181402-66181602	HepG2	liver:	n/a	chr6:66181502-66181515 chr6:66181460-66181473
34	JUND	chr6:66181320-66181648	HepG2	liver:	n/a	n/a
35	JUND	chr6:66158519-66158578	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr6:66171024-66171422	K562	blood:	n/a	n/a
37	KAP1	chr6:66171034-66171461	U2OS	brain:	n/a	n/a
38	MAFF	chr6:66184456-66184776	HepG2	liver:	n/a	chr6:66184613-66184631
39	MAFF	chr6:66173647-66173879	HepG2	liver:	n/a	n/a
40	MAFF	chr6:66179909-66180182	HepG2	liver:	n/a	n/a
41	MAFF	chr6:66168223-66168661	HepG2	liver:	n/a	chr6:66168390-66168408
42	MAFF	chr6:66179991-66180128	K562	blood:	n/a	n/a
43	MAFK	chr6:66179901-66180191	IMR90	lung:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070
44	MAFK	chr6:66168242-66168582	HepG2	liver:	n/a	chr6:66168397-66168406 chr6:66168392-66168407 chr6:66168392-66168403 chr6:66168393-66168404 chr6:66168392-66168403 chr6:66168392-66168408 chr6:66168391-66168405
45	MAFK	chr6:66179895-66180215	HepG2	liver:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070
46	MAFK	chr6:66184455-66184758	HepG2	liver:	n/a	chr6:66184615-66184630
47	MAFK	chr6:66168258-66168663	HepG2	liver:	n/a	chr6:66168397-66168406 chr6:66168392-66168407 chr6:66168392-66168403 chr6:66168393-66168404 chr6:66168392-66168403 chr6:66168625-66168645 chr6:66168392-66168408 chr6:66168391-66168405
48	MAFK	chr6:66159849-66159889	HepG2	liver:	n/a	n/a
49	MAFK	chr6:66173080-66173118	HepG2	liver:	n/a	n/a
50	MAFK	chr6:66179923-66180198	HepG2	liver:	n/a	chr6:66180057-66180068 chr6:66180057-66180068 chr6:66180060-66180077 chr6:66179966-66179982 chr6:66180057-66180073 chr6:66179965-66179979 chr6:66180056-66180070

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:
2	chr6:66158867..66160946-chr6:66172650..66174788,2	K562	blood:

Variant related genes	Relation type
ENSG00000265187	TF binding region

Extended variants
information (count: 260 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9445549	chr6:66157091-66157092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550588211	chr6:66157097-66157098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191922000	chr6:66157103-66157104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539219739	chr6:66157130-66157131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140486956	chr6:66157181-66157182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72648380	chr6:66157183-66157184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115939018	chr6:66157197-66157198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79757086	chr6:66157199-66157200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201141540	chr6:66157217-66157218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs67586165	chr6:66157218-66157219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375676017	chr6:66157221-66157222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370288861	chr6:66157223-66157224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199758472	chr6:66157225-66157226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376773319	chr6:66157226-66157227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368795118	chr6:66157227-66157228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371552022	chr6:66157229-66157230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374195695	chr6:66157231-66157232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34028656	chr6:66157235-66157236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397836822	chr6:66157239-66157240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200891867	chr6:66157240-66157241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201867074	chr6:66157242-66157243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71818056	chr6:66157254-66157255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12198668	chr6:66157255-66157256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2064634	chr6:66157268-66157269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4295457	chr6:66157270-66157271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9453302	chr6:66157288-66157289	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12197256	chr6:66157318-66157319	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558465530	chr6:66157319-66157320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs199530750	chr6:66157337-66157338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540793965	chr6:66157379-66157380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560676176	chr6:66157416-66157417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12190486	chr6:66157442-66157443	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12203562	chr6:66157455-66157456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs199744789	chr6:66157466-66157467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150748869	chr6:66157473-66157474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs66856853	chr6:66157474-66157475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369035368	chr6:66157530-66157531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371961135	chr6:66157534-66157535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12190548	chr6:66157552-66157553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs530407124	chr6:66157634-66157635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12197452	chr6:66157645-66157646	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147207449	chr6:66157651-66157652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182521209	chr6:66157655-66157656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376070445	chr6:66157656-66157657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187178508	chr6:66157657-66157658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369289162	chr6:66157676-66157677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201478991	chr6:66157733-66157734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144540725	chr6:66157735-66157736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368874062	chr6:66157740-66157741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140518080	chr6:66157747-66157748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Dyslexia	22102821	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Retinitis pigmentosa	21519034	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:66156400-66158600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:66157000-66160800	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr6:66157400-66158200	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:66157400-66160600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:66157600-66158200	Enhancers	H9 Cell Line	embryonic stem cell
6	chr6:66157600-66158400	Enhancers	Brain Substantia Nigra	brain
7	chr6:66157600-66160600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:66157600-66160600	Enhancers	Brain Hippocampus Middle	brain
9	chr6:66157800-66160400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:66157800-66160600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:66158000-66160800	Enhancers	Fetal Brain Male	brain
12	chr6:66158200-66158400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr6:66158200-66160400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:66158400-66158600	Weak transcription	Brain Substantia Nigra	brain
15	chr6:66158600-66159000	Active TSS	Brain Substantia Nigra	brain
16	chr6:66158600-66160000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:66158800-66159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:66158800-66159200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:66158800-66159200	Enhancers	Brain Germinal Matrix	brain
20	chr6:66159200-66160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:66159200-66160200	Weak transcription	Brain Germinal Matrix	brain
22	chr6:66159600-66159800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr6:66160200-66160400	Enhancers	Brain Germinal Matrix	brain
24	chr6:66160200-66160600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:66160200-66160800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:66160400-66160800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr6:66160600-66160800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr6:66170400-66171400	Enhancers	K562	blood
29	chr6:66171000-66171400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:66171000-66171600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:66171000-66171600	Enhancers	Fetal Heart	heart
32	chr6:66175000-66175400	Active TSS	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links