Variant report

Variant	esv1808946
Chromosome Location	chr8:11492772-11494782
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	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:
3	chr8:11477779..11479551-chr8:11492372..11494460,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531254384	chr8:11492775-11492776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552457692	chr8:11492779-11492780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571030109	chr8:11492792-11492793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191230700	chr8:11492804-11492805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559948785	chr8:11492807-11492808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547132632	chr8:11492832-11492833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77301470	chr8:11492833-11492834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113239157	chr8:11492834-11492835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554159479	chr8:11492850-11492851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145099210	chr8:11492858-11492859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377023223	chr8:11492893-11492894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558469073	chr8:11492910-11492911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577006442	chr8:11492916-11492917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535103886	chr8:11492931-11492932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147619015	chr8:11492966-11492967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575005632	chr8:11492968-11492969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542213733	chr8:11492969-11492970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139547754	chr8:11493001-11493002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575803745	chr8:11493054-11493055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546524561	chr8:11493072-11493073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181262723	chr8:11493088-11493089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528719748	chr8:11493140-11493141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149745896	chr8:11493177-11493178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558996149	chr8:11493204-11493205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150979436	chr8:11493212-11493213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529749376	chr8:11493219-11493220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186134040	chr8:11493235-11493236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189749626	chr8:11493263-11493264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183514249	chr8:11493291-11493292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376502250	chr8:11493294-11493295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373562151	chr8:11493295-11493296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534778038	chr8:11493312-11493313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553222437	chr8:11493313-11493314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112306986	chr8:11493325-11493326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145672520	chr8:11493359-11493360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112646433	chr8:11493399-11493400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530534797	chr8:11493416-11493417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557075988	chr8:11493429-11493430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575636388	chr8:11493453-11493454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2256399	chr8:11493469-11493470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs564830593	chr8:11493471-11493472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573222903	chr8:11493543-11493544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190920489	chr8:11493557-11493558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372879660	chr8:11493564-11493565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370820321	chr8:11493566-11493567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61417096	chr8:11493574-11493575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397967929	chr8:11493582-11493583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533212329	chr8:11493603-11493604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546527266	chr8:11493617-11493618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148900834	chr8:11493621-11493622	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:18 , 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	chr8:11491400-11493800	Weak transcription	Fetal Intestine Small	intestine
8	chr8:11491400-11494400	Weak transcription	Gastric	stomach
9	chr8:11492200-11498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:11492400-11493000	Enhancers	HepG2	liver
11	chr8:11492600-11493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11493000-11496400	Weak transcription	HepG2	liver
13	chr8:11493800-11495000	Enhancers	Fetal Intestine Small	intestine
14	chr8:11494000-11495000	Enhancers	Fetal Intestine Large	intestine
15	chr8:11494200-11495400	Enhancers	Fetal Heart	heart
16	chr8:11494400-11494800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
17	chr8:11494400-11495000	Enhancers	Gastric	stomach
18	chr8:11494400-11495000	Enhancers	Stomach Mucosa	stomach

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