Variant report

Variant	nsv886143
Chromosome Location	chr6:70968276-70984436
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	BATF	chr6:70980394-70980654	GM12878	blood:	n/a	chr6:70980567-70980577
2	BATF	chr6:70980328-70980642	GM12878	blood:	n/a	chr6:70980567-70980577
3	BHLHE40	chr6:70977390-70977480	K562	blood:	n/a	n/a
4	CEBPB	chr6:70979922-70980266	IMR90	lung:	n/a	n/a
5	CEBPB	chr6:70979872-70980336	ECC-1	luminal epithelium:	n/a	n/a
6	CEBPB	chr6:70979972-70980261	HepG2	liver:	n/a	n/a
7	CEBPB	chr6:70979968-70980182	A549	lung:	n/a	n/a
8	CEBPB	chr6:70979840-70980683	ECC-1	luminal epithelium:	n/a	n/a
9	CHD2	chr6:70980001-70980225	GM12878	blood:	n/a	n/a
10	CUX1	chr6:70980037-70980288	GM12878	blood:	n/a	n/a
11	EP300	chr6:70979905-70980318	ECC-1	luminal epithelium:	n/a	n/a
12	EP300	chr6:70980061-70980200	GM12878	blood:	n/a	n/a
13	EP300	chr6:70980448-70980651	GM12878	blood:	n/a	n/a
14	EP300	chr6:70980011-70980207	GM12878	blood:	n/a	n/a
15	EP300	chr6:70979793-70980535	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr6:70980546-70980747	GM12878	blood:	n/a	chr6:70980650-70980660
17	ESR1	chr6:70979911-70980245	ECC-1	luminal epithelium:	n/a	n/a
18	ESR1	chr6:70979905-70980390	ECC-1	luminal epithelium:	n/a	n/a
19	FOXA1	chr6:70980477-70980745	ECC-1	luminal epithelium:	n/a	n/a
20	KAP1	chr6:70979990-70981136	U2OS	brain:	n/a	n/a
21	KAP1	chr6:70979869-70980862	HEK293	kidney:	n/a	chr6:70979918-70979927
22	MAFK	chr6:70973443-70973468	HepG2	liver:	n/a	n/a
23	MAFK	chr6:70976121-70976132	HepG2	liver:	n/a	n/a
24	NFIC	chr6:70979939-70980496	ECC-1	luminal epithelium:	n/a	n/a
25	NFIC	chr6:70979857-70980556	ECC-1	luminal epithelium:	n/a	n/a
26	PAX5	chr6:70980029-70980293	GM12878	blood:	n/a	chr6:70980174-70980192
27	PAX5	chr6:70980001-70980342	GM12878	blood:	n/a	chr6:70980174-70980192
28	PAX5	chr6:70979937-70980320	GM12878	blood:	n/a	chr6:70980174-70980192
29	PAX5	chr6:70979921-70980292	GM12878	blood:	n/a	chr6:70980174-70980192
30	PBX3	chr6:70980414-70980618	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:70977087-70977132	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr6:70977981-70978072	MCF-7	breast:	n/a	n/a
33	POLR2A	chr6:70983875-70983886	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr6:70980225-70980325	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr6:70972721-70972728	MCF10A-Er-Src	breast:	n/a	n/a
36	RCOR1	chr6:70969190-70969289	K562	blood:	n/a	n/a
37	RELA	chr6:70980005-70980633	GM12878	blood:	n/a	chr6:70980161-70980170 chr6:70980161-70980170
38	STAT1	chr6:70980540-70980718	GM12878	blood:	n/a	n/a
39	STAT3	chr6:70978279-70978434	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr6:70972837-70973077	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr6:70968320-70968475	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr6:70972342-70972444	MCF10A-Er-Src	breast:	n/a	n/a
43	STAT3	chr6:70975656-70975866	MCF10A-Er-Src	breast:	n/a	chr6:70975748-70975755
44	TBL1XR1	chr6:70980556-70980575	GM12878	blood:	n/a	n/a
45	TCF12	chr6:70979855-70980379	ECC-1	luminal epithelium:	n/a	n/a
46	TCF12	chr6:70979845-70980470	ECC-1	luminal epithelium:	n/a	n/a
47	TCF7L2	chr6:70969184-70969861	Hela-S3	cervix:	n/a	n/a
48	TCF7L2	chr6:70979852-70980826	HEK293	kidney:	n/a	n/a
49	TEAD4	chr6:70979957-70980459	ECC-1	luminal epithelium:	n/a	n/a
50	TEAD4	chr6:70979841-70980524	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:70966233..70968621-chr6:70972011..70974576,2	K562	blood:
2	chr6:70979610..70981357-chr6:70986658..70989280,2	K562	blood:
3	chr6:70983202..70984971-chr6:70988155..70990490,2	K562	blood:
4	chr6:70970616..70973250-chr6:70975727..70977681,2	K562	blood:
5	chr6:70954782..70956814-chr6:70966578..70968796,2	K562	blood:
6	chr6:70969310..70971265-chr6:70989015..70991528,2	K562	blood:

Variant related genes	Relation type
COL9A1	TF binding region
ENSG00000112280	chromatin interactions

Extended variants
information (count: 770 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:770 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555663	chr6:70968276-70968277	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577018088	chr6:70968285-70968286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539761552	chr6:70968338-70968339	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552888731	chr6:70968355-70968356	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573020174	chr6:70968357-70968358	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150496769	chr6:70968358-70968359	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs369217902	chr6:70968359-70968360	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs541508512	chr6:70968368-70968369	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35353077	chr6:70968373-70968374	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs529496144	chr6:70968374-70968375	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs193126849	chr6:70968387-70968388	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561410526	chr6:70968398-70968399	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs371592084	chr6:70968420-70968421	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs575015255	chr6:70968454-70968455	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543755307	chr6:70968486-70968487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539273705	chr6:70968497-70968498	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs183665102	chr6:70968527-70968528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532687542	chr6:70968549-70968550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs9354910	chr6:70968660-70968661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs188542468	chr6:70968801-70968802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529898	chr6:70968819-70968820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552359385	chr6:70968826-70968827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139419259	chr6:70968836-70968837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201771761	chr6:70968837-70968838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559671357	chr6:70968848-70968849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528730805	chr6:70968875-70968876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113979	chr6:70968953-70968954	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568538245	chr6:70968954-70968955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376938413	chr6:70968957-70968958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537545888	chr6:70968960-70968961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550689811	chr6:70968961-70968962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570870888	chr6:70968987-70968988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539330447	chr6:70968989-70968990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528080	chr6:70969021-70969022	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs377018409	chr6:70969047-70969048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535243134	chr6:70969049-70969050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192833673	chr6:70969066-70969067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574950723	chr6:70969102-70969103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369864125	chr6:70969170-70969171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527431943	chr6:70969172-70969173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184188757	chr6:70969243-70969244	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs563925802	chr6:70969255-70969256	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs188184620	chr6:70969282-70969283	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs144144878	chr6:70969343-70969344	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs555270943	chr6:70969376-70969377	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs146531194	chr6:70969427-70969428	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191499531	chr6:70969442-70969443	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs548753862	chr6:70969445-70969446	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs374570309	chr6:70969515-70969516	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531022117	chr6:70969517-70969518	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70952200-70980400	Weak transcription	Fetal Stomach	stomach
2	chr6:70952200-70990000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:70952600-70980400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:70952800-70989800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:70955200-70971000	Weak transcription	Fetal Kidney	kidney
6	chr6:70962000-70983600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:70965200-70991600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:70965400-70969200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:70968000-70968800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:70969200-70969800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:70969800-70972000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:70972000-70972800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:70972800-70978200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:70978200-70979000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:70979000-70991600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:70979800-70980400	Enhancers	GM12878-XiMat	blood
17	chr6:70979800-70980600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:70979800-70980800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr6:70979800-70981200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:70980000-70980600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:70980400-70980600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:70980400-70980800	Enhancers	Fetal Kidney	kidney
23	chr6:70980400-70981000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr6:70980400-70981800	Enhancers	Fetal Stomach	stomach
25	chr6:70980600-70981200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:70981200-70981400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:70981400-70991200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:70981800-70987600	Weak transcription	Fetal Stomach	stomach
29	chr6:70984000-70984200	Active TSS	Gastric	stomach
30	chr6:70984200-70992000	Weak transcription	Gastric	stomach

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