Variant report

Variant	esv9761
Chromosome Location	chr8:10883638-10884662
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	chr8:10883944..10886637-chr8:10888412..10890996,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548442061	chr8:10883654-10883655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112870584	chr8:10883756-10883757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150398311	chr8:10883764-10883765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112719455	chr8:10883770-10883771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111332469	chr8:10883782-10883783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537778481	chr8:10883825-10883826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555886080	chr8:10883826-10883827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577608775	chr8:10883836-10883837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538316852	chr8:10883838-10883839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553907769	chr8:10883873-10883874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113111848	chr8:10883877-10883878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371576613	chr8:10883879-10883880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113362653	chr8:10883885-10883886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374344139	chr8:10883896-10883897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375869693	chr8:10883899-10883900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185195807	chr8:10883904-10883905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543739728	chr8:10883924-10883925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112509035	chr8:10883955-10883956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565089981	chr8:10883987-10883988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532538341	chr8:10884048-10884049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578228883	chr8:10884076-10884077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541095755	chr8:10884107-10884108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559433235	chr8:10884117-10884118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530170966	chr8:10884194-10884195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370473949	chr8:10884222-10884223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373591384	chr8:10884247-10884248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548355452	chr8:10884263-10884264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199576914	chr8:10884265-10884266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35234078	chr8:10884274-10884275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531104224	chr8:10884277-10884278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115746816	chr8:10884301-10884302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62490739	chr8:10884327-10884328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs36088662	chr8:10884353-10884354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs35539607	chr8:10884355-10884356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs113307944	chr8:10884388-10884389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112541143	chr8:10884395-10884396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113303745	chr8:10884428-10884429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35995832	chr8:10884474-10884475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143774343	chr8:10884513-10884514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148163207	chr8:10884516-10884517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117505580	chr8:10884521-10884522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543304638	chr8:10884529-10884530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537777692	chr8:10884566-10884567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142024458	chr8:10884571-10884572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577127001	chr8:10884572-10884573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150718357	chr8:10884580-10884581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183514011	chr8:10884581-10884582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559352444	chr8:10884607-10884608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530133230	chr8:10884617-10884618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377109344	chr8:10884636-10884637	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10874400-10892800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:10875000-10890000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:10879600-10890000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:10879600-10890400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:10879800-10890600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:10880000-10890200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:10880000-10896800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:10880200-10890400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:10880200-10890400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:10880200-10890600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:10881400-10893200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:10883400-10899600	Weak transcription	Brain Anterior Caudate	brain
13	chr8:10884200-10884400	Weak transcription	Pancreas	Pancrea
14	chr8:10884400-10892800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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