Variant report

Variant	esv3403762
Chromosome Location	chr8:10881742-10886140
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:
2	chr8:10772740..10774724-chr8:10885497..10887029,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AF131215.6.1-2	chr8:10881285-10881816	NONHSAT125029

Extended variants
information (count: 223 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61021720	chr8:10881748-10881749	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs68106615	chr8:10881763-10881764	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564099652	chr8:10881810-10881811	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs138986803	chr8:10881825-10881826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114342481	chr8:10881826-10881827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117025116	chr8:10881875-10881876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150893170	chr8:10881918-10881919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534247720	chr8:10881931-10881932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550337738	chr8:10881935-10881936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531129181	chr8:10881954-10881955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569001648	chr8:10881963-10881964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533243891	chr8:10881967-10881968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551392646	chr8:10881991-10881992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78146142	chr8:10881999-10882000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534209478	chr8:10882016-10882017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192393338	chr8:10882082-10882083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77171745	chr8:10882086-10882087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538371314	chr8:10882106-10882107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556715394	chr8:10882134-10882135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184398660	chr8:10882147-10882148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115140411	chr8:10882173-10882174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545642821	chr8:10882177-10882178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550652711	chr8:10882217-10882218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs60742264	chr8:10882233-10882234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs572470792	chr8:10882256-10882257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539825603	chr8:10882291-10882292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149236495	chr8:10882298-10882299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189083458	chr8:10882313-10882314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570550780	chr8:10882335-10882336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114315122	chr8:10882373-10882374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544014981	chr8:10882395-10882396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562659638	chr8:10882404-10882405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569418323	chr8:10882406-10882407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs57462408	chr8:10882433-10882434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs566671395	chr8:10882460-10882461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73196894	chr8:10882461-10882462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549379391	chr8:10882478-10882479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567711624	chr8:10882494-10882495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538334207	chr8:10882504-10882505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139536957	chr8:10882508-10882509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556391203	chr8:10882533-10882534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571784723	chr8:10882543-10882544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538875262	chr8:10882571-10882572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145182809	chr8:10882585-10882586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535705408	chr8:10882602-10882603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572380998	chr8:10882603-10882604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542958645	chr8:10882710-10882711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147612516	chr8:10882742-10882743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181648236	chr8:10882743-10882744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568671433	chr8:10882760-10882761	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:16 , 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	chr8:10882400-10882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:10883400-10899600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:10884200-10884400	Weak transcription	Pancreas	Pancrea
15	chr8:10884400-10892800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:10885600-10887000	Weak transcription	Pancreas	Pancrea

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