Variant report

Variant	esv3395265
Chromosome Location	chr8:66936048-66939146
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:66934410..66936922-chr8:66937926..66940879,2	K562	blood:
2	chr8:66697287..66699597-chr8:66938827..66941499,2	MCF-7	breast:
3	chr8:66746876..66747440-chr8:66938709..66939472,2	MCF-7	breast:
4	chr8:66928177..66937337-chr8:66937383..66943347,17	MCF-7	breast:
5	chr8:66877498..66879065-chr8:66939086..66941564,2	MCF-7	breast:
6	chr8:66938865..66941643-chr8:66944661..66947406,3	MCF-7	breast:
7	chr8:66934410..66936922-chr8:66937926..66940879,2	K562	blood:
8	chr8:66752746..66756404-chr8:66931747..66936511,11	MCF-7	breast:
9	chr8:66939130..66942548-chr8:66942805..66946877,6	MCF-7	breast:
10	chr8:66750304..66757030-chr8:66936519..66946979,24	MCF-7	breast:
11	chr8:66933795..66936922-chr8:66937756..66943533,5	K562	blood:
12	chr8:66752587..66755352-chr8:66933051..66936501,7	MCF-7	breast:
13	chr8:66931688..66936639-chr8:66937276..66942801,8	MCF-7	breast:
14	chr8:66743264..66756293-chr8:66938648..66949139,49	MCF-7	breast:
15	chr8:66703420..66705855-chr8:66937536..66939633,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000205268	chromatin interactions
ENSG00000147570	chromatin interactions
ENSG00000272192	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531055282	chr8:66936067-66936068	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549904072	chr8:66936070-66936071	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs571020980	chr8:66936096-66936097	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10092425	chr8:66936105-66936106	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553372349	chr8:66936158-66936159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565313176	chr8:66936160-66936161	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10092435	chr8:66936177-66936178	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs76141806	chr8:66936189-66936190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536763116	chr8:66936232-66936233	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184536111	chr8:66936252-66936253	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538058462	chr8:66936257-66936258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs61032439	chr8:66936283-66936284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556752972	chr8:66936284-66936285	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116817997	chr8:66936285-66936286	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs545497261	chr8:66936290-66936291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560507961	chr8:66936291-66936292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572339980	chr8:66936294-66936295	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148760850	chr8:66936303-66936304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566879138	chr8:66936307-66936308	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs369807427	chr8:66936315-66936316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs60646949	chr8:66936344-66936345	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs143718850	chr8:66936349-66936350	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs16932421	chr8:66936357-66936358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs375749480	chr8:66936380-66936381	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189245244	chr8:66936421-66936422	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs140606167	chr8:66936472-66936473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs373783591	chr8:66936481-66936482	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2357657	chr8:66936490-66936491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144237441	chr8:66936508-66936509	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs367778585	chr8:66936573-66936574	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs74879979	chr8:66936598-66936599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs548121508	chr8:66936634-66936635	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377765964	chr8:66936639-66936640	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200253214	chr8:66936659-66936660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs146870970	chr8:66936660-66936661	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374074355	chr8:66936724-66936725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs62507391	chr8:66936742-66936743	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556816426	chr8:66936757-66936758	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs565581440	chr8:66936785-66936786	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574259321	chr8:66936858-66936859	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554305463	chr8:66937271-66937272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112898222	chr8:66937437-66937438	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs113680600	chr8:66937778-66937779	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs113261290	chr8:66937916-66937917	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs111483248	chr8:66938094-66938095	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs111924168	chr8:66938139-66938140	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs572459369	chr8:66938169-66938170	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs539948828	chr8:66938186-66938187	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs561302457	chr8:66938248-66938249	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs576283084	chr8:66938260-66938261	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
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
Cancer	16751803	CNVD
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:66931000-66938800	Weak transcription	Spleen	Spleen
2	chr8:66931600-66938800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:66933600-66936200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr8:66933600-66936200	Enhancers	Small Intestine	intestine
5	chr8:66933800-66936600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr8:66933800-66938600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:66933800-66944400	Weak transcription	Pancreas	Pancrea
8	chr8:66934000-66936200	Enhancers	Primary T cells from cord blood	blood
9	chr8:66934000-66943800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:66934000-66944400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:66934600-66936200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:66934600-66938800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:66934600-66939200	Weak transcription	Psoas Muscle	Psoas
14	chr8:66934800-66937000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:66934800-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:66934800-66938600	Weak transcription	Thymus	Thymus
17	chr8:66934800-66938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:66934800-66938800	Weak transcription	Esophagus	oesophagus
19	chr8:66934800-66938800	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:66934800-66938800	Weak transcription	Gastric	stomach
21	chr8:66934800-66938800	Weak transcription	Right Atrium	heart
22	chr8:66934800-66940800	Weak transcription	Lung	lung
23	chr8:66935000-66938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:66935000-66938600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:66935000-66938600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:66935000-66938600	Weak transcription	HMEC	breast
27	chr8:66935000-66938600	Weak transcription	NHEK	skin
28	chr8:66935000-66938800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:66935000-66938800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:66935000-66938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:66935000-66938800	Weak transcription	Fetal Intestine Small	intestine
32	chr8:66935200-66938600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:66935400-66936200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr8:66935400-66938400	Weak transcription	Hela-S3	cervix
35	chr8:66935400-66938600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:66935400-66938800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr8:66935400-66938800	Weak transcription	Left Ventricle	heart
38	chr8:66935400-66938800	Weak transcription	HepG2	liver
39	chr8:66935400-66945800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:66935600-66936200	Enhancers	A549	lung
41	chr8:66935600-66938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:66935600-66938600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr8:66935600-66938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr8:66935600-66938600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:66935600-66938600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:66935600-66938600	Weak transcription	Fetal Thymus	thymus
47	chr8:66935600-66938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:66935600-66938800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr8:66935600-66938800	Weak transcription	Adipose Nuclei	Adipose
50	chr8:66935600-66938800	Weak transcription	NHDF-Ad	bronchial

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