Variant report

Variant	esv3434856
Chromosome Location	chr8:9113728-9114206
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	chr8:9112030..9114953-chr8:9119545..9121234,2	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374044822	chr8:9113749-9113750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575902092	chr8:9113762-9113763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369030816	chr8:9113765-9113766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12675407	chr8:9113767-9113768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs201544966	chr8:9113787-9113788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535644109	chr8:9113788-9113789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555470581	chr8:9113789-9113790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10109882	chr8:9113803-9113804	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs199841346	chr8:9113808-9113809	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551476043	chr8:9113809-9113810	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571758359	chr8:9113813-9113814	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142262871	chr8:9113815-9113816	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs149087159	chr8:9113816-9113817	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs398112171	chr8:9113818-9113819	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200636035	chr8:9113828-9113829	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs180789315	chr8:9113833-9113834	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs201494834	chr8:9113842-9113843	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs557382599	chr8:9113843-9113844	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs376588991	chr8:9113851-9113852	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368007761	chr8:9113856-9113857	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116554827	chr8:9113857-9113858	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs372146857	chr8:9113867-9113868	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs199749870	chr8:9113869-9113870	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs375384340	chr8:9113878-9113879	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs145158151	chr8:9113881-9113882	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376895864	chr8:9113883-9113884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs368713276	chr8:9113887-9113888	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201563476	chr8:9113888-9113889	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs141301818	chr8:9113891-9113892	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs377142659	chr8:9113895-9113896	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs71201920	chr8:9113896-9113897	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs12675429	chr8:9113897-9113898	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376026872	chr8:9113908-9113909	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs56944518	chr8:9113910-9113911	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs200615510	chr8:9113911-9113912	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs201711054	chr8:9113913-9113914	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs200059528	chr8:9113915-9113916	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs61666910	chr8:9113917-9113918	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs59974952	chr8:9113919-9113920	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs12675431	chr8:9113925-9113926	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs116123776	chr8:9113927-9113928	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs545038164	chr8:9113931-9113932	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs201200678	chr8:9113938-9113939	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201803121	chr8:9113939-9113940	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs151252014	chr8:9113942-9113943	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs199986763	chr8:9113943-9113944	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs12675433	chr8:9113947-9113948	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111205074	chr8:9113951-9113952	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111205075	chr8:9113952-9113953	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111205076	chr8:9113953-9113954	Weak transcription Active TSS	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
low-grade B-cell lymphoma tumor	18367492	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
Bladder cancer	21909424	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

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9095200-9114400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9110200-9114200	Weak transcription	Liver	Liver
3	chr8:9111400-9114200	Weak transcription	Brain Hippocampus Middle	brain
4	chr8:9111400-9114800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:9111400-9117800	Weak transcription	Right Atrium	heart
6	chr8:9111600-9115000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:9112400-9114400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr8:9112600-9114200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:9112600-9115800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:9113200-9114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:9113200-9114400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9113200-9114400	Weak transcription	Psoas Muscle	Psoas
13	chr8:9113200-9117600	Weak transcription	Right Ventricle	heart
14	chr8:9113200-9125000	Weak transcription	Fetal Lung	lung
15	chr8:9113400-9115800	Weak transcription	K562	blood
16	chr8:9113800-9114200	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr8:9114000-9115400	Enhancers	Fetal Brain Male	brain
18	chr8:9114200-9114400	Enhancers	Liver	Liver
19	chr8:9114200-9114600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr8:9114200-9114600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:9114200-9115800	Enhancers	Brain Anterior Caudate	brain
22	chr8:9114200-9116000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr8:9114200-9116200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr8:9114200-9116200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:9114200-9116200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr8:9114200-9116400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr8:9114200-9116400	Enhancers	Brain Hippocampus Middle	brain

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