Variant report

Variant	esv3413717
Chromosome Location	chr8:61526872-61527116
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61427063..61431145-chr8:61524680..61528238,3	MCF-7	breast:
2	chr8:61524875..61526902-chr8:61529551..61531219,2	K562	blood:
3	chr8:61525175..61527465-chr8:61536083..61538610,2	K562	blood:
4	chr8:61525459..61529300-chr8:61532493..61534738,4	K562	blood:
5	chr8:61525465..61527090-chr8:61529519..61532324,2	K562	blood:
6	chr8:61521815..61524778-chr8:61526470..61529848,3	K562	blood:
7	chr8:61525760..61527520-chr8:61863383..61865720,2	K562	blood:
8	chr8:61520531..61524778-chr8:61525857..61529848,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000251396	chromatin interactions
ENSG00000104388	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553772418	chr8:61526885-61526886	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369818537	chr8:61526901-61526902	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571932352	chr8:61526903-61526904	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556977685	chr8:61526906-61526907	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs140147976	chr8:61526929-61526930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs567243974	chr8:61526951-61526952	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs625850	chr8:61526953-61526954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs531542490	chr8:61526978-61526979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs555977609	chr8:61527016-61527017	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376108878	chr8:61527039-61527040	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs150460316	chr8:61527048-61527049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs565068365	chr8:61527058-61527059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532678319	chr8:61527093-61527094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80238383	chr8:61527112-61527113	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61481000-61527400	Weak transcription	Psoas Muscle	Psoas
2	chr8:61500400-61542200	Weak transcription	Hela-S3	cervix
3	chr8:61506000-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:61506400-61532400	Weak transcription	NHLF	lung
5	chr8:61508800-61533000	Weak transcription	HUVEC	blood vessel
6	chr8:61512800-61527800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:61513000-61528400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:61515600-61532200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:61515600-61533400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr8:61516000-61532000	Weak transcription	NHDF-Ad	bronchial
11	chr8:61516200-61533200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:61517800-61532200	Weak transcription	Small Intestine	intestine
13	chr8:61517800-61537800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:61518000-61530800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:61518000-61532000	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:61518000-61532000	Weak transcription	Fetal Brain Male	brain
17	chr8:61518000-61534000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:61518000-61536600	Weak transcription	Aorta	Aorta
19	chr8:61518200-61527000	Weak transcription	Brain Angular Gyrus	brain
20	chr8:61518200-61530400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:61518200-61531000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:61518200-61531400	Weak transcription	Fetal Brain Female	brain
23	chr8:61518200-61532000	Weak transcription	Brain Substantia Nigra	brain
24	chr8:61518200-61532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr8:61518200-61532200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:61518200-61532200	Weak transcription	Fetal Thymus	thymus
27	chr8:61518200-61532200	Weak transcription	Ovary	ovary
28	chr8:61518200-61532200	Weak transcription	Pancreas	Pancrea
29	chr8:61518200-61532800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:61518200-61533200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:61518200-61533200	Weak transcription	A549	lung
32	chr8:61518200-61535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:61518200-61535600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr8:61518200-61537200	Weak transcription	Gastric	stomach
35	chr8:61518200-61537400	Weak transcription	Spleen	Spleen
36	chr8:61518400-61536400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:61519000-61535200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:61519000-61535800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:61519200-61527600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr8:61519600-61530400	Weak transcription	Fetal Kidney	kidney
41	chr8:61519800-61541800	Weak transcription	Esophagus	oesophagus
42	chr8:61520200-61540000	Weak transcription	Fetal Intestine Small	intestine
43	chr8:61520600-61535200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:61521200-61528000	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr8:61522000-61532400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr8:61522000-61535000	Weak transcription	Thymus	Thymus
47	chr8:61522000-61538000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:61522000-61538400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr8:61522000-61538800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:61522200-61529200	Weak transcription	Brain Germinal Matrix	brain

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