Variant report

Variant	esv20853
Chromosome Location	chr8:11736855-11738771
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11722381..11725684-chr8:11738607..11743840,4	K562	blood:
2	chr8:11724798..11726931-chr8:11734409..11737375,2	K562	blood:
3	chr8:11732515..11734330-chr8:11735926..11737604,2	K562	blood:
4	chr8:11717778..11719934-chr8:11735920..11738113,2	MCF-7	breast:
5	chr8:11728396..11730707-chr8:11735513..11737265,2	K562	blood:
6	chr8:11724109..11726850-chr8:11734821..11736918,2	MCF-7	breast:
7	chr8:11724372..11727512-chr8:11735176..11737878,3	MCF-7	breast:
8	chr8:11731939..11733861-chr8:11735868..11738030,2	K562	blood:
9	chr8:11200722..11203684-chr8:11734586..11737466,2	K562	blood:
10	chr8:11734290..11736871-chr8:11743194..11744743,2	K562	blood:
11	chr8:11727352..11730707-chr8:11734493..11737265,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164733	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 139 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78700274	chr8:11736858-11736859	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs145713416	chr8:11736872-11736873	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368670653	chr8:11736883-11736884	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567178576	chr8:11736912-11736913	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2740602	chr8:11736920-11736921	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs556159654	chr8:11736940-11736941	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs578002629	chr8:11736953-11736954	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536183576	chr8:11736962-11736963	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138282682	chr8:11736971-11736972	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs367786700	chr8:11737014-11737015	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74353793	chr8:11737024-11737025	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs116510783	chr8:11737052-11737053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs117108285	chr8:11737087-11737088	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs35321719	chr8:11737094-11737095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183133700	chr8:11737129-11737130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545190806	chr8:11737136-11737137	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561457343	chr8:11737167-11737168	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531679616	chr8:11737201-11737202	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187715790	chr8:11737202-11737203	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368579706	chr8:11737222-11737223	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564531104	chr8:11737273-11737274	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369326931	chr8:11737279-11737280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547672808	chr8:11737284-11737285	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566174073	chr8:11737288-11737289	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530292421	chr8:11737292-11737293	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548464662	chr8:11737297-11737298	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs75186411	chr8:11737301-11737302	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192648153	chr8:11737305-11737306	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs185745231	chr8:11737329-11737330	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571254243	chr8:11737331-11737332	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189435141	chr8:11737353-11737354	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs554012860	chr8:11737357-11737358	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541092504	chr8:11737380-11737381	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142837895	chr8:11737390-11737391	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543356501	chr8:11737397-11737398	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536465509	chr8:11737427-11737428	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs192391368	chr8:11737435-11737436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs574128585	chr8:11737441-11737442	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs576133169	chr8:11737445-11737446	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373588980	chr8:11737471-11737472	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs543505808	chr8:11737499-11737500	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564976664	chr8:11737518-11737519	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184556450	chr8:11737536-11737537	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150278889	chr8:11737537-11737538	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560015754	chr8:11737561-11737562	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530295221	chr8:11737577-11737578	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188971723	chr8:11737591-11737592	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76120569	chr8:11737597-11737598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376599685	chr8:11737686-11737687	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs73546754	chr8:11737745-11737746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:139)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11727400-11737800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:11731200-11738200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:11731600-11737800	Enhancers	Placenta	Placenta
4	chr8:11732800-11737200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:11734000-11738000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:11734000-11738000	Enhancers	HepG2	liver
7	chr8:11734200-11737800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:11734400-11737800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:11734600-11737000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:11734600-11737200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:11734600-11737800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr8:11734600-11740600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:11735800-11737000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:11735800-11737800	Enhancers	NHEK	skin
15	chr8:11735800-11740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:11735800-11740800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:11735800-11740800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:11735800-11741800	Weak transcription	NHLF	lung
19	chr8:11735800-11742200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:11736000-11737000	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:11736000-11737000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:11736000-11737200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:11736000-11740600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:11736000-11741000	Weak transcription	A549	lung
25	chr8:11736000-11743400	Weak transcription	Fetal Intestine Small	intestine
26	chr8:11736200-11737200	Enhancers	Primary B cells from cord blood	blood
27	chr8:11736200-11739200	Weak transcription	Osteobl	bone
28	chr8:11736200-11740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:11736200-11741000	Weak transcription	HSMM	muscle
30	chr8:11736400-11737000	Enhancers	Spleen	Spleen
31	chr8:11736400-11737200	Weak transcription	HMEC	breast
32	chr8:11736400-11737400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:11736400-11740800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:11736400-11748600	Weak transcription	HSMMtube	muscle
35	chr8:11736400-11749000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:11736600-11737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:11736600-11737000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr8:11736600-11737200	Weak transcription	Esophagus	oesophagus
39	chr8:11736600-11739800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:11736600-11740400	Enhancers	GM12878-XiMat	blood
41	chr8:11736600-11741000	Weak transcription	NHDF-Ad	bronchial
42	chr8:11736600-11741200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:11736800-11737200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:11736800-11737200	Weak transcription	Fetal Thymus	thymus
45	chr8:11736800-11737400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:11736800-11737600	Flanking Active TSS	K562	blood
47	chr8:11736800-11738000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:11737000-11737200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr8:11737000-11737200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr8:11737000-11737600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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