Variant report

Variant	nsv966626
Chromosome Location	chr6:71239987-71245902
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	chr6:71240821-71241116	GM12878	blood:	n/a	n/a
2	BATF	chr6:71240799-71241147	GM12878	blood:	n/a	n/a
3	CTCF	chr6:71244039-71244152	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr6:71244080-71244112	A549	lung:	n/a	n/a
5	CTCF	chr6:71244113-71244125	GM12891	blood:	n/a	n/a
6	CTCF	chr6:71244049-71244119	HepG2	liver:	n/a	n/a
7	EBF1	chr6:71240887-71241053	GM12878	blood:	n/a	n/a
8	EP300	chr6:71243336-71243364	GM12878	blood:	n/a	n/a
9	EP300	chr6:71240912-71241252	GM12878	blood:	n/a	n/a
10	EP300	chr6:71240829-71241355	GM12878	blood:	n/a	n/a
11	EP300	chr6:71240937-71241304	GM12878	blood:	n/a	n/a
12	IRF4	chr6:71240779-71241139	GM12878	blood:	n/a	n/a
13	MAFF	chr6:71239789-71240076	K562	blood:	n/a	chr6:71239917-71239935
14	MAFF	chr6:71239798-71240091	HepG2	liver:	n/a	chr6:71239917-71239935
15	MAFK	chr6:71241006-71241077	K562	blood:	n/a	n/a
16	MAFK	chr6:71239766-71240076	IMR90	lung:	n/a	chr6:71239918-71239933
17	MAFK	chr6:71239764-71240104	HepG2	liver:	n/a	chr6:71239918-71239933
18	MAFK	chr6:71239812-71240044	HepG2	liver:	n/a	chr6:71239918-71239933
19	MXI1	chr6:71241005-71241418	GM12878	blood:	n/a	n/a
20	NFE2	chr6:71242862-71242873	GM12878	blood:	n/a	n/a
21	NFYB	chr6:71240867-71241081	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:71243899-71243944	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr6:71240680-71240778	K562	blood:	n/a	n/a
24	SPI1	chr6:71240868-71241243	GM12891	blood:	n/a	n/a
25	SPI1	chr6:71241009-71241145	GM12878	blood:	n/a	n/a
26	SPI1	chr6:71240905-71241200	GM12878	blood:	n/a	n/a
27	SPI1	chr6:71240915-71241241	GM12891	blood:	n/a	n/a
28	STAT3	chr6:71244836-71244919	MCF10A-Er-Src	breast:	n/a	n/a
29	TBP	chr6:71240825-71241147	GM12878	blood:	n/a	n/a
30	ZNF384	chr6:71241456-71241657	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71238197..71240749-chr6:71264718..71266440,2	K562	blood:

Variant related genes	Relation type
FAM135A	TF binding region
ENSG00000082269	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139567968	chr6:71239999-71240000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149756116	chr6:71240003-71240004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs558784025	chr6:71240021-71240022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555839846	chr6:71240023-71240024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145609520	chr6:71240034-71240035	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538266715	chr6:71240047-71240048	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs188095611	chr6:71240066-71240067	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs578058373	chr6:71240081-71240082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7454219	chr6:71240085-71240086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs75665939	chr6:71240092-71240093	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4496758	chr6:71240093-71240094	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111500395	chr6:71240100-71240101	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562255467	chr6:71240108-71240109	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10434814	chr6:71240150-71240151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531276004	chr6:71240195-71240196	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115029340	chr6:71240196-71240197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375071896	chr6:71240235-71240236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs77855543	chr6:71240309-71240310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs570112171	chr6:71240357-71240358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547277825	chr6:71240373-71240374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375247157	chr6:71240380-71240381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs367845646	chr6:71240487-71240488	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs569517653	chr6:71240511-71240512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567014928	chr6:71240556-71240557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537194375	chr6:71240588-71240589	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529506418	chr6:71240640-71240641	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs549570477	chr6:71240672-71240673	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62421873	chr6:71240708-71240709	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569453740	chr6:71240712-71240713	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs9455148	chr6:71240848-71240849	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144186949	chr6:71240869-71240870	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369959962	chr6:71240872-71240873	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571660761	chr6:71240884-71240885	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs533894335	chr6:71240885-71240886	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs57211713	chr6:71240889-71240890	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs573655163	chr6:71240899-71240900	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs573817532	chr6:71240932-71240933	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs555126649	chr6:71240934-71240935	Weak transcription Strong transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555966873	chr6:71241029-71241030	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs191446456	chr6:71241032-71241033	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112643647	chr6:71241200-71241201	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs112108868	chr6:71241205-71241206	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs534698906	chr6:71241223-71241224	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs60954115	chr6:71241234-71241235	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372137528	chr6:71241236-71241237	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs146581337	chr6:71241259-71241260	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs184522633	chr6:71241320-71241321	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs549684466	chr6:71241339-71241340	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs563115198	chr6:71241376-71241377	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76397978	chr6:71241434-71241435	Weak transcription Strong transcription	n/a	n/a	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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71210600-71262000	Weak transcription	Fetal Thymus	thymus
2	chr6:71214000-71244800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr6:71214000-71248600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:71214000-71248800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr6:71214000-71249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:71214000-71250600	Weak transcription	Right Ventricle	heart
7	chr6:71214000-71253000	Weak transcription	Colonic Mucosa	Colon
8	chr6:71214000-71253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:71214000-71256600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:71214000-71276000	Weak transcription	Brain Angular Gyrus	brain
11	chr6:71214000-71276000	Weak transcription	Brain Germinal Matrix	brain
12	chr6:71214000-71276000	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:71214200-71248200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:71214400-71246000	Weak transcription	HMEC	breast
15	chr6:71214400-71251000	Weak transcription	Brain Substantia Nigra	brain
16	chr6:71214400-71251800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr6:71214400-71257000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:71214400-71262000	Weak transcription	Psoas Muscle	Psoas
19	chr6:71214600-71241600	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:71214600-71244000	Weak transcription	Esophagus	oesophagus
21	chr6:71214600-71244400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:71214600-71248200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:71214600-71248600	Weak transcription	NHEK	skin
24	chr6:71214600-71248800	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:71214600-71251200	Weak transcription	K562	blood
26	chr6:71214600-71276000	Weak transcription	A549	lung
27	chr6:71214800-71240400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr6:71215000-71273000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:71216000-71240400	Weak transcription	GM12878-XiMat	blood
30	chr6:71216200-71262200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:71219000-71258800	Weak transcription	Small Intestine	intestine
32	chr6:71225200-71248800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:71226200-71244000	Weak transcription	Ovary	ovary
34	chr6:71228000-71248800	Weak transcription	Fetal Kidney	kidney
35	chr6:71228600-71276000	Weak transcription	Primary T cells from cord blood	blood
36	chr6:71229600-71276200	Weak transcription	Aorta	Aorta
37	chr6:71229800-71248800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:71230400-71247400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:71231200-71268000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:71231800-71244200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:71231800-71257200	Weak transcription	Fetal Heart	heart
42	chr6:71232000-71241400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:71232800-71251200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:71233400-71245000	Weak transcription	Pancreas	Pancrea
45	chr6:71233400-71248800	Weak transcription	Fetal Brain Female	brain
46	chr6:71233400-71256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:71234400-71241600	Strong transcription	Fetal Intestine Large	intestine
48	chr6:71234800-71250800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:71234800-71256600	Weak transcription	HepG2	liver
50	chr6:71235600-71242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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