Variant report

Variant	esv1004012
Chromosome Location	chr6:73866875-73870455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:427)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:73867243-73867381	Fibrobl	skin:	n/a	n/a
2	CTCF	chr6:73868879-73868898	GM13976	blood:	n/a	n/a
3	MYC	chr6:73867393-73867407	MCF-7	breast:	n/a	n/a
4	MYC	chr6:73867286-73867389	MCF-7	breast:	n/a	n/a
5	POLR2A	chr6:73868540-73868879	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr6:73867252-73867451	MCF-7	breast:	n/a	n/a
7	POLR2A	chr6:73867311-73867351	Gliobla	brain:	n/a	n/a
8	POLR2A	chr6:73867294-73867321	MCF-7	breast:	n/a	n/a
9	RFX5	chr6:73868664-73868700	K562	blood:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:73869669-73869719	HNPCEpiC	eye:	n/a
2	chr6:73870174-73870224	Hela-S3	cervix:	n/a
3	chr6:73870174-73870224	AG09319	gingival:	n/a
4	chr6:73867179-73867229	Caco-2	colon:	n/a
5	chr6:73867933-73867983	PANC-1	pancreas:	n/a
6	chr6:73867020-73867070	PrEC	prostate:	n/a
7	chr6:73867758-73867808	NB4	blood:	n/a
8	chr6:73867933-73867983	Caco-2	colon:	n/a
9	chr6:73867758-73867808	HRPEpiC	eye:	n/a
10	chr6:73867933-73867983	SK-N-SH_RA	brain:	n/a
11	chr6:73867179-73867229	PANC-1	pancreas:	n/a
12	chr6:73867758-73867808	AG04449	skin:	fetal
13	chr6:73867758-73867808	HCPEpiC	choroid plexus:	n/a
14	chr6:73867179-73867229	HCF	heart:	n/a
15	chr6:73866848-73866898	NH-A	brain:	n/a
16	chr6:73867179-73867229	HepG2	liver:	n/a
17	chr6:73867933-73867983	H1-hESC	embryonic stem cell:	embryo
18	chr6:73866848-73866898	HepG2	liver:	n/a
19	chr6:73867758-73867808	ovcar-3	ovarian:	n/a
20	chr6:73867933-73867983	SKMC	muscle:	n/a
21	chr6:73869669-73869719	PANC-1	pancreas:	n/a
22	chr6:73869669-73869719	MCF10A-Er-Src	breast:	n/a
23	chr6:73867933-73867983	HCF	heart:	n/a
24	chr6:73870174-73870224	T-47D	breast:	n/a
25	chr6:73867758-73867808	Caco-2	colon:	n/a
26	chr6:73867020-73867070	HEEpiC	esophagus:	n/a
27	chr6:73867020-73867070	MCF10A-Er-Src	breast:	n/a
28	chr6:73866848-73866898	PFSK-1	brain:	n/a
29	chr6:73866848-73866898	SAEC	small airway:	n/a
30	chr6:73867758-73867808	HMEC	breast:	n/a
31	chr6:73869669-73869719	HepG2	liver:	n/a
32	chr6:73869669-73869719	BJ	skin:	n/a
33	chr6:73869669-73869719	NHBE	bronchial:	n/a
34	chr6:73870174-73870224	AG09309	skin:	n/a
35	chr6:73866848-73866898	HRPEpiC	eye:	n/a
36	chr6:73870174-73870224	A549	lung:	n/a
37	chr6:73867020-73867070	AG04449	skin:	fetal
38	chr6:73869669-73869719	AG04449	skin:	fetal
39	chr6:73866848-73866898	HCF	heart:	n/a
40	chr6:73866848-73866898	T-47D	breast:	n/a
41	chr6:73870174-73870224	SK-N-SH_RA	brain:	n/a
42	chr6:73867758-73867808	Jurkat	blood:	n/a
43	chr6:73867933-73867983	NH-A	brain:	n/a
44	chr6:73867758-73867808	RPTEC	kidney:	n/a
45	chr6:73867758-73867808	PANC-1	pancreas:	n/a
46	chr6:73867179-73867229	HCM	heart:	n/a
47	chr6:73867179-73867229	Hela-S3	cervix:	n/a
48	chr6:73866848-73866898	CMK	blood:	n/a
49	chr6:73867020-73867070	NHBE	bronchial:	n/a
50	chr6:73869669-73869719	IMR90	lung:	fetal

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73580836..73581458-chr6:73866841..73867761,2	MCF-7	breast:
2	6:73859137-73881637..6:73927031-73938730	Hela-S3	cervix:
3	6:73859137-73881637..6:74099986-74112890	GM12878	blood:
4	chr6:73865237..73867807-chr6:73877060..73879197,2	K562	blood:
5	6:73859137-73881637..6:74062967-74076046	GM12878	blood:

No data

Variant related genes	Relation type
ENSG00000234025	TF binding region
ENSG00000234025	CpG island
ENSG00000238464	chromatin interactions
ENSG00000203908	chromatin interactions
ENSG00000203909	chromatin interactions
ENSG00000224221	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000256980	chromatin interactions
ENSG00000080007	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572287175	chr6:73866882-73866883	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs16883423	chr6:73866893-73866894	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs537512387	chr6:73866904-73866905	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs557606143	chr6:73866918-73866919	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs575639680	chr6:73866926-73866927	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs185451116	chr6:73866937-73866938	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs9360644	chr6:73866942-73866943	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs561676507	chr6:73866984-73866985	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs557955825	chr6:73867007-73867008	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs144640060	chr6:73867019-73867020	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs884957	chr6:73867050-73867051	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189735233	chr6:73867088-73867089	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs180708233	chr6:73867106-73867107	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs552117803	chr6:73867117-73867118	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs570322968	chr6:73867120-73867121	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs530931983	chr6:73867163-73867164	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs549396079	chr6:73867175-73867176	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs537169929	chr6:73867180-73867181	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs555506184	chr6:73867241-73867242	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs535104329	chr6:73867260-73867261	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs115992814	chr6:73867264-73867265	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs573908593	chr6:73867277-73867278	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs72951099	chr6:73867286-73867287	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557630829	chr6:73867335-73867336	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs575926859	chr6:73867362-73867363	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs2027543	chr6:73867371-73867372	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138601734	chr6:73867384-73867385	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs149292081	chr6:73867424-73867425	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs541141859	chr6:73867459-73867460	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs559149445	chr6:73867475-73867476	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs533575142	chr6:73867494-73867495	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs554605991	chr6:73867507-73867508	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs577558328	chr6:73867536-73867537	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs144643972	chr6:73867589-73867590	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs549145104	chr6:73867607-73867608	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs567632348	chr6:73867611-73867612	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs186343427	chr6:73867612-73867613	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs192183840	chr6:73867643-73867644	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs117242753	chr6:73867665-73867666	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs539292912	chr6:73867704-73867705	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs551149784	chr6:73867723-73867724	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs569648290	chr6:73867772-73867773	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs536924573	chr6:73867773-73867774	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs9351978	chr6:73867775-73867776	ZNF genes & repeats Weak transcription Strong transcription Enhancers	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573596999	chr6:73867835-73867836	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs6453645	chr6:73867838-73867839	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs9446859	chr6:73867879-73867880	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs6453646	chr6:73867903-73867904	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7742363	chr6:73867916-73867917	Weak transcription Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs35034898	chr6:73867937-73867938	Weak transcription Strong transcription	CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
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
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
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	20409316	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73844400-73867000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr6:73846400-73879200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:73854600-73867200	Weak transcription	Aorta	Aorta
4	chr6:73856600-73876600	Weak transcription	Primary B cells from cord blood	blood
5	chr6:73863200-73876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:73863600-73878000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:73865000-73867200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:73865200-73867000	Strong transcription	Primary T cells from cord blood	blood
9	chr6:73866400-73867000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:73866400-73867600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:73866400-73867800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
12	chr6:73866600-73867000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:73866600-73867600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:73866600-73867600	Bivalent Enhancer	Placenta	Placenta
15	chr6:73866800-73867800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:73867000-73867800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:73867000-73869000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr6:73867000-73884600	Weak transcription	Primary T cells from cord blood	blood
19	chr6:73867200-73867400	ZNF genes & repeats	Aorta	Aorta
20	chr6:73867200-73867800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:73867400-73867600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:73867400-73867600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
23	chr6:73867400-73880600	Weak transcription	Aorta	Aorta
24	chr6:73867600-73867800	Enhancers	Placenta	Placenta
25	chr6:73867600-73868000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr6:73867600-73890400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:73867600-73890400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:73867800-73876400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr6:73867800-73876800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:73869000-73904200	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links