Variant report

Variant	esv2762727
Chromosome Location	chr8:11699659-11701253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11658317..11661287-chr8:11697246..11700186,2	K562	blood:
2	chr8:11664874..11667348-chr8:11701152..11702795,2	MCF-7	breast:
3	chr8:11697890..11700465-chr8:11711516..11714369,2	K562	blood:
4	chr8:11693196..11696107-chr8:11696780..11702016,6	K562	blood:
5	chr8:11699877..11702780-chr8:11758303..11760780,3	K562	blood:

Variant related genes	Relation type
ENSG00000255046	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000079459	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 140 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191686846	chr8:11699662-11699663	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78763986	chr8:11699667-11699668	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369179289	chr8:11699670-11699671	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs183869289	chr8:11699686-11699687	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs116789205	chr8:11699687-11699688	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs1692822	chr8:11699707-11699708	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532275865	chr8:11699712-11699713	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565345192	chr8:11699728-11699729	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs4841601	chr8:11699730-11699731	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs372563624	chr8:11699736-11699737	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs188206992	chr8:11699741-11699742	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs529882458	chr8:11699780-11699781	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548343458	chr8:11699790-11699791	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs570211266	chr8:11699792-11699793	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs180821099	chr8:11699806-11699807	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs552615383	chr8:11699838-11699839	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs570718685	chr8:11699840-11699841	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs28620463	chr8:11699843-11699844	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs374729002	chr8:11699851-11699852	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs59291913	chr8:11699861-11699862	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs141503656	chr8:11699867-11699868	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs187321891	chr8:11699885-11699886	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs190621291	chr8:11699901-11699902	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs535719837	chr8:11699906-11699907	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs116097524	chr8:11699910-11699911	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs147542585	chr8:11699922-11699923	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs375166164	chr8:11699943-11699944	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs73543173	chr8:11699947-11699948	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539760046	chr8:11699953-11699954	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs553106215	chr8:11699975-11699976	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs558150516	chr8:11699980-11699981	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs1692821	chr8:11699988-11699989	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs112086464	chr8:11699989-11699990	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs559417110	chr8:11699993-11699994	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529998933	chr8:11700002-11700003	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs541699455	chr8:11700008-11700009	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs563434243	chr8:11700054-11700055	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs6731	chr8:11700101-11700102	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs552678623	chr8:11700102-11700103	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs564490787	chr8:11700132-11700133	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs148809615	chr8:11700137-11700138	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528502339	chr8:11700147-11700148	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs75924404	chr8:11700159-11700160	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs62495676	chr8:11700161-11700162	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs1138591	chr8:11700208-11700209	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs1071789	chr8:11700213-11700214	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142704150	chr8:11700215-11700216	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1071788	chr8:11700218-11700219	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs1143599	chr8:11700222-11700223	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1143598	chr8:11700223-11700224	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:140)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:11671400-11701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:11675200-11707000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:11675800-11712600	Strong transcription	Dnd41	blood
6	chr8:11676200-11704800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr8:11677000-11705200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:11677200-11704400	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr8:11677600-11702000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:11677600-11702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:11677600-11703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:11677600-11708200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:11677600-11710600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:11677600-11711800	Strong transcription	Fetal Brain Female	brain
15	chr8:11677800-11706600	Strong transcription	NHLF	lung
16	chr8:11678000-11707400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:11678200-11704000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:11678200-11704400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:11678200-11704600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:11678200-11705200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:11678200-11705200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr8:11678200-11706800	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr8:11678400-11704000	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:11678400-11704400	Strong transcription	GM12878-XiMat	blood
25	chr8:11678400-11705600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr8:11678400-11706400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:11678600-11705400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:11678600-11708600	Strong transcription	HUVEC	blood vessel
29	chr8:11679000-11702200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:11679000-11705200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:11679200-11710400	Strong transcription	NHDF-Ad	bronchial
33	chr8:11679200-11710800	Strong transcription	Fetal Stomach	stomach
34	chr8:11679400-11705600	Strong transcription	Fetal Lung	lung
35	chr8:11679600-11704200	Strong transcription	K562	blood
36	chr8:11680400-11706600	Strong transcription	HepG2	liver
37	chr8:11682200-11713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:11682400-11712600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:11683000-11713200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr8:11683200-11706600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:11683200-11710000	Strong transcription	NH-A	brain
42	chr8:11683400-11703400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:11683400-11711600	Strong transcription	Brain Germinal Matrix	brain
44	chr8:11683600-11708600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:11683600-11712600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr8:11685600-11710600	Strong transcription	HSMM	muscle
47	chr8:11686000-11700600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:11686400-11704400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:11689400-11706400	Strong transcription	Fetal Intestine Small	intestine
50	chr8:11690400-11710200	Strong transcription	Fetal Intestine Large	intestine

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