Variant report

Variant	esv3340591
Chromosome Location	chr1:86439980-86459810
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:
2	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:

Extended variants
information (count: 698 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146144479	chr1:86440022-86440023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559437243	chr1:86440114-86440115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186893037	chr1:86440131-86440132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140137300	chr1:86440137-86440138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142179399	chr1:86440232-86440233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146357607	chr1:86440264-86440265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550864372	chr1:86440297-86440298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139330362	chr1:86440348-86440349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1324898	chr1:86440401-86440402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552987203	chr1:86440410-86440411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60872078	chr1:86440497-86440498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150006447	chr1:86440500-86440501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79962958	chr1:86440510-86440511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558108238	chr1:86440593-86440594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191351997	chr1:86440745-86440746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145197953	chr1:86440769-86440770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557654497	chr1:86440833-86440834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573963148	chr1:86440863-86440864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564571582	chr1:86440881-86440882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148710536	chr1:86440886-86440887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567286595	chr1:86440893-86440894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559301545	chr1:86440954-86440955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185067115	chr1:86440984-86440985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532186	chr1:86441044-86441045	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs565196594	chr1:86441091-86441092	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4912440	chr1:86441106-86441107	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189446166	chr1:86441116-86441117	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533090	chr1:86441143-86441144	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs566618189	chr1:86441207-86441208	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145306937	chr1:86441247-86441248	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529992313	chr1:86441317-86441318	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112374530	chr1:86441360-86441361	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181930805	chr1:86441413-86441414	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373547938	chr1:86441513-86441514	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185004697	chr1:86441530-86441531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36022728	chr1:86441531-86441532	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75449321	chr1:86441553-86441554	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189905206	chr1:86441585-86441586	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72954600	chr1:86441594-86441595	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537665539	chr1:86441595-86441596	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553616506	chr1:86441671-86441672	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577870337	chr1:86441711-86441712	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373419802	chr1:86441734-86441735	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536545808	chr1:86441749-86441750	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs142254653	chr1:86441754-86441755	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573201669	chr1:86441758-86441759	Enhancers Active TSS Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545029685	chr1:86441818-86441819	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146052851	chr1:86441842-86441843	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565402900	chr1:86441846-86441847	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575616951	chr1:86441873-86441874	Active TSS Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86421400-86441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86422800-86442400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86425800-86441200	Weak transcription	Fetal Lung	lung
4	chr1:86434200-86440800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86438200-86441000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:86438800-86441400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86438800-86441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:86439000-86440800	Weak transcription	GM12878-XiMat	blood
9	chr1:86439600-86440000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:86440800-86442200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:86441000-86442600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:86441200-86442200	Strong transcription	Fetal Lung	lung
13	chr1:86441200-86442400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:86441200-86442800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:86441200-86442800	Enhancers	Adipose Nuclei	Adipose
16	chr1:86441400-86441800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:86441400-86442000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:86441400-86442000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:86441400-86442200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:86441400-86442200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:86441400-86442400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:86441400-86442400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:86441400-86442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr1:86441400-86442600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:86441400-86442800	Enhancers	Fetal Muscle Trunk	muscle
26	chr1:86441600-86442000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:86441600-86442600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr1:86441600-86442800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:86441800-86442800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:86441800-86442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:86441800-86442800	Enhancers	Fetal Muscle Leg	muscle
32	chr1:86442000-86442200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr1:86442000-86442400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:86442000-86442600	Enhancers	Fetal Intestine Large	intestine
35	chr1:86442000-86442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:86442000-86447400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:86442200-86442400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr1:86442200-86442400	Enhancers	Fetal Intestine Small	intestine
39	chr1:86442200-86442600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:86442200-86442600	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:86442200-86442800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr1:86442200-86442800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr1:86442200-86443200	Weak transcription	Fetal Lung	lung
44	chr1:86442400-86444000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr1:86442600-86446400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:86442800-86443000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:86442800-86443400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:86443000-86444400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
49	chr1:86443400-86444200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:86444000-86445800	Weak transcription	Primary hematopoietic stem cells	blood

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