Variant report

Variant	esv3330362
Chromosome Location	chr8:10608892-10610990
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	chr8:10591978..10593893-chr8:10610774..10613689,2	K562	blood:
2	chr8:10592393..10594061-chr8:10610774..10613759,2	K562	blood:

Extended variants
information (count: 92 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533578525	chr8:10608894-10608895	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs543010709	chr8:10608941-10608942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs543613156	chr8:10608950-10608951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs185248974	chr8:10609006-10609007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189259193	chr8:10609013-10609014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549478299	chr8:10609074-10609075	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs74613527	chr8:10609075-10609076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs528467490	chr8:10609116-10609117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs184045728	chr8:10609137-10609138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs188927253	chr8:10609154-10609155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs528418685	chr8:10609179-10609180	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs537259497	chr8:10609224-10609225	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs138078314	chr8:10609263-10609264	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs567040999	chr8:10609271-10609272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs564577673	chr8:10609273-10609274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs191689564	chr8:10609274-10609275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs535968799	chr8:10609282-10609283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs149118983	chr8:10609290-10609291	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs117229255	chr8:10609646-10609647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563900915	chr8:10609663-10609664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183478208	chr8:10609684-10609685	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543183971	chr8:10609708-10609709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13250710	chr8:10609712-10609713	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187207636	chr8:10609716-10609717	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375404229	chr8:10609719-10609720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10111588	chr8:10609737-10609738	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576429369	chr8:10609744-10609745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565200092	chr8:10609763-10609764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530687041	chr8:10609780-10609781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13275439	chr8:10609786-10609787	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371948717	chr8:10609787-10609788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191920539	chr8:10609788-10609789	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60477590	chr8:10609807-10609808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146723211	chr8:10609808-10609809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs57072086	chr8:10609823-10609824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10111701	chr8:10609825-10609826	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13278613	chr8:10609827-10609828	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55878109	chr8:10609839-10609840	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147471235	chr8:10609841-10609842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369513797	chr8:10609854-10609855	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs55904684	chr8:10609855-10609856	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35877582	chr8:10609857-10609858	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201896536	chr8:10609859-10609860	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10101331	chr8:10609872-10609873	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112897729	chr8:10609877-10609878	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186921912	chr8:10609890-10609891	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545531995	chr8:10609902-10609903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565435343	chr8:10609921-10609922	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546294434	chr8:10609925-10609926	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13276026	chr8:10609955-10609956	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:136)

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
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10607800-10609400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr8:10609600-10610000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:10609600-10610000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr8:10609600-10614000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10609600-10616200	Weak transcription	Primary T cells from cord blood	blood
6	chr8:10610000-10621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:10610200-10610400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:10610200-10610800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
9	chr8:10610400-10610600	Bivalent Enhancer	Esophagus	oesophagus
10	chr8:10610400-10610600	ZNF genes & repeats	HepG2	liver
11	chr8:10610400-10614200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:10610600-10620400	Weak transcription	HepG2	liver
13	chr8:10610800-10622200	Weak transcription	Primary B cells from cord blood	blood
14	chr8:10610800-10662000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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