Variant report

Variant	esv2761406
Chromosome Location	chr8:9836320-9844384
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	chr8:9839190..9841149-chr8:9843519..9845588,2	K562	blood:
2	chr8:9839190..9841149-chr8:9843519..9845588,2	K562	blood:

Extended variants
information (count: 133 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545015086	chr8:9841613-9841614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559919492	chr8:9841634-9841635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148771755	chr8:9841664-9841665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185741562	chr8:9841688-9841689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142435052	chr8:9841693-9841694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189661959	chr8:9841714-9841715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116898841	chr8:9841723-9841724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545208638	chr8:9841744-9841745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565084503	chr8:9841747-9841748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549872963	chr8:9841819-9841820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373537895	chr8:9841822-9841823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75459170	chr8:9841829-9841830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544445908	chr8:9841839-9841840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560855692	chr8:9841883-9841884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529606846	chr8:9841918-9841919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532455033	chr8:9841926-9841927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs620071	chr8:9841949-9841950	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs566157345	chr8:9841962-9841963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527362660	chr8:9841999-9842000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566319861	chr8:9842006-9842007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532219002	chr8:9842032-9842033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116922261	chr8:9842061-9842062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182371813	chr8:9842068-9842069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34467770	chr8:9842142-9842143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537257964	chr8:9842181-9842182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557654723	chr8:9842205-9842206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567983393	chr8:9842207-9842208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150901671	chr8:9842218-9842219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139433376	chr8:9842224-9842225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1521195	chr8:9842234-9842235	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs144176192	chr8:9842262-9842263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568752408	chr8:9842268-9842269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369046240	chr8:9842286-9842287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545483275	chr8:9842297-9842298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537064059	chr8:9842324-9842325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548820404	chr8:9842329-9842330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372446120	chr8:9842365-9842366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570235130	chr8:9842401-9842402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575352733	chr8:9842408-9842409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544016522	chr8:9842426-9842427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114752942	chr8:9842442-9842443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187239403	chr8:9842446-9842447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76494968	chr8:9842450-9842451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566404289	chr8:9842466-9842467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192071022	chr8:9842474-9842475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147780467	chr8:9842523-9842524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534707689	chr8:9842557-9842558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552209150	chr8:9842598-9842599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141193899	chr8:9842666-9842667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370191716	chr8:9842668-9842669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9841600-9842600	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr8:9841800-9842600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr8:9842000-9842400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:9842000-9842600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:9842000-9842600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:9842000-9842600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:9842000-9842600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:9842400-9842800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:9842400-9855000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:9842600-9848000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr8:9842600-9848200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:9842800-9848000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:9843400-9844000	Enhancers	Liver	Liver

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