Variant report

Variant	esv2761442
Chromosome Location	chr8:86201657-86230641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86126895..86128516-chr8:86206289..86209119,2	K562	blood:
2	chr8:86209691..86210223-chr8:86364003..86364752,2	MCF-7	breast:
3	chr8:86209797..86210360-chr8:87056059..87056917,2	MCF-7	breast:
4	chr8:86209343..86210253-chr8:87045503..87046009,2	K562	blood:
5	chr8:86222565..86224096-chr8:86281520..86283708,2	MCF-7	breast:
6	chr8:86088599..86090947-chr8:86216106..86218320,2	MCF-7	breast:
7	chr8:85538135..85538922-chr8:86202235..86203001,3	MCF-7	breast:
8	chr8:86059423..86060332-chr8:86201778..86202999,3	MCF-7	breast:
9	chr8:86211068..86212027-chr8:87100896..87101631,2	K562	blood:
10	chr8:86131309..86134784-chr8:86200962..86204075,3	MCF-7	breast:
11	chr8:86132574..86133932-chr8:86200875..86203499,32	MCF-7	breast:
12	chr8:86211093..86212034-chr8:86283049..86283804,4	MCF-7	breast:
13	chr8:86211080..86212132-chr8:86363695..86364436,5	MCF-7	breast:
14	chr8:86209312..86210314-chr8:87045120..87046083,5	MCF-7	breast:
15	chr8:86059490..86060356-chr8:86202019..86202533,2	K562	blood:
16	chr8:86209363..86209968-chr8:86283005..86283748,2	MCF-7	breast:
17	chr8:86209388..86210307-chr8:86375535..86376317,2	K562	blood:
18	chr8:86059254..86060308-chr8:86202052..86203050,5	MCF-7	breast:
19	chr8:86132601..86133518-chr8:86202049..86203190,16	MCF-7	breast:
20	chr8:86209311..86210290-chr8:86357968..86358764,3	MCF-7	breast:
21	chr8:86230212..86230857-chr8:86290709..86291683,2	MCF-7	breast:
22	chr8:86209220..86210007-chr8:87100560..87101317,2	MCF-7	breast:
23	chr8:86215057..86217911-chr8:86221082..86223025,2	K562	blood:
24	chr8:86157807..86158310-chr8:86209318..86210236,2	K562	blood:
25	chr8:86211585..86214496-chr8:87045992..87048546,2	MCF-7	breast:
26	chr8:86176240..86178800-chr8:86200957..86202565,2	MCF-7	breast:
27	chr8:86211076..86211587-chr8:86373603..86374373,2	MCF-7	breast:
28	chr8:86215057..86217911-chr8:86221082..86223025,2	K562	blood:
29	chr8:86086312..86088635-chr8:86202652..86204401,2	MCF-7	breast:
30	chr8:86201309..86204247-chr8:86206649..86208335,2	K562	blood:
31	chr8:86209387..86210237-chr8:86999260..87000146,2	MCF-7	breast:
32	chr8:86209418..86210324-chr8:87100237..87101601,6	K562	blood:
33	chr8:86201309..86204247-chr8:86206649..86208335,2	K562	blood:
34	chr8:86229702..86230332-chr8:86290542..86291598,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185015	chromatin interactions
ENSG00000258256	chromatin interactions
ENSG00000133740	chromatin interactions
ENSG00000260493	chromatin interactions
ENSG00000147614	chromatin interactions
ENSG00000104267	chromatin interactions
ENSG00000147613	chromatin interactions
ENSG00000133742	chromatin interactions
ENSG00000254208	chromatin interactions
ENSG00000176731	chromatin interactions

Extended variants
information (count: 1001 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1001 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377553666	chr8:86201749-86201750	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147931380	chr8:86201751-86201752	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs545123175	chr8:86201768-86201769	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12541445	chr8:86201809-86201810	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527671066	chr8:86201847-86201848	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549302150	chr8:86201866-86201867	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs530753339	chr8:86201881-86201882	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs573485398	chr8:86201924-86201925	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550786877	chr8:86201969-86201970	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs141606959	chr8:86201999-86202000	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs536501812	chr8:86202011-86202012	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561227642	chr8:86202013-86202014	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs531858573	chr8:86202048-86202049	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs546289196	chr8:86202049-86202050	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191430485	chr8:86202180-86202181	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs74882412	chr8:86202181-86202182	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs150433530	chr8:86202230-86202231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs116677289	chr8:86202245-86202246	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs145167572	chr8:86202260-86202261	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs550365813	chr8:86202311-86202312	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571708851	chr8:86202330-86202331	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557127909	chr8:86202343-86202344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371605600	chr8:86202369-86202370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs376046277	chr8:86202401-86202402	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574252044	chr8:86202442-86202443	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538731021	chr8:86202501-86202502	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547174092	chr8:86202504-86202505	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149132272	chr8:86202519-86202520	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs60087251	chr8:86202523-86202524	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371602439	chr8:86202553-86202554	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs200058627	chr8:86202565-86202566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs201018549	chr8:86202638-86202639	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs181537662	chr8:86202648-86202649	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565420262	chr8:86202685-86202686	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs73691805	chr8:86202712-86202713	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576420167	chr8:86202744-86202745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs377328839	chr8:86202783-86202784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537299052	chr8:86202833-86202834	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540816626	chr8:86202910-86202911	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529963040	chr8:86202986-86202987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs376764434	chr8:86203025-86203026	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs398047333	chr8:86203044-86203045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs371623377	chr8:86203045-86203046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs11988530	chr8:86203046-86203047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367836882	chr8:86203067-86203068	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369466942	chr8:86203090-86203091	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs146352510	chr8:86203164-86203165	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370687337	chr8:86203182-86203183	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs551743534	chr8:86203228-86203229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs57452766	chr8:86203234-86203235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86170800-86204400	Weak transcription	Ovary	ovary
2	chr8:86190200-86203600	Weak transcription	Fetal Stomach	stomach
3	chr8:86190200-86208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:86190200-86209600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:86190200-86209600	Weak transcription	Gastric	stomach
6	chr8:86191200-86208400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:86196800-86202400	Weak transcription	Fetal Lung	lung
8	chr8:86197200-86211800	Weak transcription	Fetal Intestine Large	intestine
9	chr8:86197400-86225800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:86199800-86205600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:86201200-86202200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:86202200-86202600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:86202200-86208400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:86202400-86203000	Enhancers	Fetal Lung	lung
15	chr8:86203000-86203600	Weak transcription	Fetal Lung	lung
16	chr8:86203600-86203800	Enhancers	Fetal Lung	lung
17	chr8:86203600-86203800	Enhancers	Fetal Stomach	stomach
18	chr8:86203800-86204200	Weak transcription	Fetal Stomach	stomach
19	chr8:86203800-86205200	Weak transcription	Fetal Lung	lung
20	chr8:86204200-86204400	Enhancers	Fetal Stomach	stomach
21	chr8:86204400-86205000	Enhancers	Ovary	ovary
22	chr8:86204400-86207200	Weak transcription	Fetal Stomach	stomach
23	chr8:86205200-86206200	Enhancers	Fetal Lung	lung
24	chr8:86205600-86206000	Enhancers	Osteobl	bone
25	chr8:86205600-86206200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:86205800-86207400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:86206200-86207000	Weak transcription	Fetal Lung	lung
28	chr8:86206200-86207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:86207000-86207200	Enhancers	HUVEC	blood vessel
30	chr8:86207000-86207800	Enhancers	Fetal Lung	lung
31	chr8:86207000-86208000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:86207200-86207400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:86207200-86207400	Enhancers	Fetal Stomach	stomach
34	chr8:86207400-86208400	Weak transcription	HUVEC	blood vessel
35	chr8:86207600-86207800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:86207800-86208600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:86208000-86208800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:86208200-86208800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:86208200-86209800	Enhancers	GM12878-XiMat	blood
40	chr8:86208400-86208800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:86208400-86208800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:86208400-86208800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:86208400-86208800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:86208400-86208800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:86208400-86208800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr8:86208400-86208800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:86208400-86208800	Enhancers	Osteobl	bone
48	chr8:86208400-86209000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:86208400-86209000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr8:86208400-86209000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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