Variant report

Variant	esv3406989
Chromosome Location	chr8:10767892-10771540
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:10763108..10765386-chr8:10767058..10768941,2	K562	blood:
2	chr8:10760620..10764608-chr8:10766304..10768558,3	K562	blood:
3	chr8:10770919..10772954-chr8:10785860..10787582,2	K562	blood:

Extended variants
information (count: 225 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs544164317	chr8:10767897-10767898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4240672	chr8:10767917-10767918	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs12550307	chr8:10767938-10767939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs546421001	chr8:10767982-10767983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560284080	chr8:10767985-10767986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532155643	chr8:10768023-10768024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558411846	chr8:10768029-10768030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552251815	chr8:10768063-10768064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113788280	chr8:10768068-10768069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146887925	chr8:10768097-10768098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56009433	chr8:10768102-10768103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs181001307	chr8:10768105-10768106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140724398	chr8:10768112-10768113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73533576	chr8:10768155-10768156	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73533577	chr8:10768183-10768184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs538817843	chr8:10768228-10768229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185931145	chr8:10768235-10768236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116664485	chr8:10768254-10768255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544225295	chr8:10768301-10768302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560929108	chr8:10768322-10768323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148840415	chr8:10768363-10768364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540133487	chr8:10768372-10768373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189473880	chr8:10768472-10768473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547256791	chr8:10768480-10768481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567056776	chr8:10768494-10768495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540699992	chr8:10768508-10768509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562632751	chr8:10768520-10768521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370250617	chr8:10768524-10768525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531419044	chr8:10768548-10768549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548247976	chr8:10768550-10768551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143520069	chr8:10768591-10768592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560823153	chr8:10768604-10768605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369425330	chr8:10768656-10768657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533726077	chr8:10768658-10768659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547283784	chr8:10768660-10768661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111293485	chr8:10768670-10768671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181747612	chr8:10768690-10768691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144959729	chr8:10768691-10768692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199821967	chr8:10768700-10768701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368298967	chr8:10768710-10768711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185879415	chr8:10768726-10768727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559644816	chr8:10768729-10768730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112920936	chr8:10768748-10768749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145221140	chr8:10768750-10768751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113548623	chr8:10768751-10768752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138899232	chr8:10768753-10768754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190384273	chr8:10768755-10768756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574494883	chr8:10768758-10768759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397711463	chr8:10768765-10768766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551841983	chr8:10768786-10768787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10762400-10778800	Weak transcription	Brain Angular Gyrus	brain
2	chr8:10765800-10770800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:10765800-10778400	Weak transcription	Pancreas	Pancrea
4	chr8:10767000-10768800	Enhancers	Fetal Brain Male	brain
5	chr8:10767200-10768400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10767800-10768600	Enhancers	GM12878-XiMat	blood
7	chr8:10768200-10768400	Enhancers	Fetal Muscle Trunk	muscle
8	chr8:10768200-10768600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:10768400-10768600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:10768400-10768600	Enhancers	Gastric	stomach
11	chr8:10768600-10771400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:10770800-10771600	Enhancers	Placenta	Placenta
13	chr8:10770800-10772600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:10771000-10771800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:10771400-10771600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:10771400-10772800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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