Variant report

Variant	esv3403013
Chromosome Location	chr8:11493843-11496341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11490989..11493930-chr8:11499186..11501140,2	K562	blood:
2	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:
3	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs183435925	chr8:11493883-11493884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539793733	chr8:11493933-11493934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145037516	chr8:11493942-11493943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573154012	chr8:11493946-11493947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540571035	chr8:11493949-11493950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566447416	chr8:11493981-11493982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573929149	chr8:11494007-11494008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541536430	chr8:11494012-11494013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563365858	chr8:11494014-11494015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138970462	chr8:11494061-11494062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545746716	chr8:11494066-11494067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145686531	chr8:11494085-11494086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117113954	chr8:11494100-11494101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75781787	chr8:11494133-11494134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117668376	chr8:11494152-11494153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573454625	chr8:11494171-11494172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568247250	chr8:11494176-11494177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529129835	chr8:11494179-11494180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369426244	chr8:11494194-11494195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76088572	chr8:11494223-11494224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188495516	chr8:11494232-11494233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542478857	chr8:11494234-11494235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539552727	chr8:11494241-11494242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562288028	chr8:11494242-11494243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141497615	chr8:11494265-11494266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566566894	chr8:11494288-11494289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79370268	chr8:11494300-11494301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192800301	chr8:11494304-11494305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150455794	chr8:11494306-11494307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544754501	chr8:11494311-11494312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556486341	chr8:11494316-11494317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138345185	chr8:11494349-11494350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543978512	chr8:11494357-11494358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545629089	chr8:11494389-11494390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115126441	chr8:11494394-11494395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147357443	chr8:11494407-11494408	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540513072	chr8:11494432-11494433	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184809344	chr8:11494445-11494446	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2256249	chr8:11494527-11494528	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186775036	chr8:11494602-11494603	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76163851	chr8:11494630-11494631	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533871014	chr8:11494633-11494634	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs2256241	chr8:11494657-11494658	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566505343	chr8:11494701-11494702	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191345078	chr8:11494749-11494750	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111417722	chr8:11494750-11494751	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112019205	chr8:11494753-11494754	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548979093	chr8:11494762-11494763	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs567576351	chr8:11494803-11494804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538162928	chr8:11494830-11494831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
Gastric cancer	22315472	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11490000-11494000	Weak transcription	Fetal Intestine Large	intestine
2	chr8:11490800-11499200	Weak transcription	Left Ventricle	heart
3	chr8:11491000-11494400	Weak transcription	Stomach Mucosa	stomach
4	chr8:11491000-11498400	Weak transcription	Pancreas	Pancrea
5	chr8:11491000-11499600	Weak transcription	Right Ventricle	heart
6	chr8:11491200-11494200	Weak transcription	Fetal Heart	heart
7	chr8:11491400-11494400	Weak transcription	Gastric	stomach
8	chr8:11492200-11498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:11493000-11496400	Weak transcription	HepG2	liver
10	chr8:11493800-11495000	Enhancers	Fetal Intestine Small	intestine
11	chr8:11494000-11495000	Enhancers	Fetal Intestine Large	intestine
12	chr8:11494200-11495400	Enhancers	Fetal Heart	heart
13	chr8:11494400-11494800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
14	chr8:11494400-11495000	Enhancers	Gastric	stomach
15	chr8:11494400-11495000	Enhancers	Stomach Mucosa	stomach
16	chr8:11494800-11495000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:11495000-11498400	Weak transcription	Gastric	stomach
18	chr8:11495000-11498400	Weak transcription	Stomach Mucosa	stomach
19	chr8:11495200-11495600	Weak transcription	Fetal Intestine Large	intestine
20	chr8:11495400-11497800	Weak transcription	Fetal Heart	heart
21	chr8:11495800-11496800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:11496200-11498400	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links