Variant report

Variant	esv3519487
Chromosome Location	chr8:11494840-11495371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11489168..11492004-chr8:11494231..11496266,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 138 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556717492	chr8:11494908-11494909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113912018	chr8:11494918-11494919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111886328	chr8:11494919-11494920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140851217	chr8:11494920-11494921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs55998074	chr8:11494935-11494936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs60614799	chr8:11494951-11494952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572998353	chr8:11494968-11494969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540200651	chr8:11494977-11494978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201231138	chr8:11494981-11494982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58345073	chr8:11494982-11494983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2448073	chr8:11494983-11494984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398067576	chr8:11494988-11494989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28425182	chr8:11494997-11494998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544221385	chr8:11495000-11495001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs13259786	chr8:11495006-11495007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs370215669	chr8:11495012-11495013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28609881	chr8:11495022-11495023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62492465	chr8:11495029-11495030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538258522	chr8:11495030-11495031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141129397	chr8:11495044-11495045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2618483	chr8:11495045-11495046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28694720	chr8:11495061-11495062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13260046	chr8:11495070-11495071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201548676	chr8:11495077-11495078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372426510	chr8:11495078-11495079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183533886	chr8:11495093-11495094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548740459	chr8:11495109-11495110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376074628	chr8:11495110-11495111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202119639	chr8:11495139-11495140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533008035	chr8:11495140-11495141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs199890576	chr8:11495154-11495155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200360583	chr8:11495155-11495156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374408423	chr8:11495170-11495171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377292488	chr8:11495180-11495181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201136592	chr8:11495187-11495188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368421348	chr8:11495202-11495203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199770966	chr8:11495203-11495204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370677088	chr8:11495218-11495219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71509183	chr8:11495219-11495220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140858590	chr8:11495228-11495229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2729942	chr8:11495235-11495236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376489130	chr8:11495251-11495252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369479812	chr8:11495267-11495268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78860560	chr8:11495283-11495284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200992840	chr8:11495297-11495298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145722292	chr8:11495299-11495300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376876915	chr8:11495315-11495316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71517622	chr8:11495318-11495319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4841575	chr8:11495319-11495320	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548917463	chr8:11495363-11495364	Weak transcription Enhancers	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11490800-11499200	Weak transcription	Left Ventricle	heart
2	chr8:11491000-11498400	Weak transcription	Pancreas	Pancrea
3	chr8:11491000-11499600	Weak transcription	Right Ventricle	heart
4	chr8:11492200-11498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11493000-11496400	Weak transcription	HepG2	liver
6	chr8:11493800-11495000	Enhancers	Fetal Intestine Small	intestine
7	chr8:11494000-11495000	Enhancers	Fetal Intestine Large	intestine
8	chr8:11494200-11495400	Enhancers	Fetal Heart	heart
9	chr8:11494400-11495000	Enhancers	Gastric	stomach
10	chr8:11494400-11495000	Enhancers	Stomach Mucosa	stomach
11	chr8:11494800-11495000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:11495000-11498400	Weak transcription	Gastric	stomach
13	chr8:11495000-11498400	Weak transcription	Stomach Mucosa	stomach
14	chr8:11495200-11495600	Weak transcription	Fetal Intestine Large	intestine

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