Variant report

Variant	nsv519236
Chromosome Location	chr8:10557407-10565263
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10555796..10558370-chr8:10558494..10560524,2	K562	blood:
2	chr8:10564366..10566017-chr8:10568811..10571288,2	K562	blood:
3	chr8:10563640..10566502-chr8:10586406..10589328,2	K562	blood:
4	chr8:10561879..10564186-chr8:10576793..10578956,2	K562	blood:
5	chr8:10561128..10563766-chr8:10580957..10583552,2	K562	blood:
6	chr8:10553813..10555777-chr8:10556607..10558383,2	K562	blood:
7	chr8:10556318..10558383-chr8:10558421..10560305,2	MCF-7	breast:
8	chr8:10556318..10558383-chr8:10558421..10560305,2	MCF-7	breast:
9	chr8:10534702..10537389-chr8:10561883..10564793,2	K562	blood:
10	chr8:10555796..10558370-chr8:10558494..10560524,2	K562	blood:
11	chr8:10556097..10559916-chr8:10561605..10564138,3	K562	blood:
12	chr8:10553523..10556097-chr8:10561265..10564003,2	K562	blood:
13	chr8:10556097..10559916-chr8:10561605..10564138,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183638	chromatin interactions
ENSG00000171056	chromatin interactions
ENSG00000248896	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7017257	chr8:10557407-10557408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75426730	chr8:10557461-10557462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369942696	chr8:10557482-10557483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183513149	chr8:10557504-10557505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370329507	chr8:10557505-10557506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539263662	chr8:10557537-10557538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556286204	chr8:10557548-10557549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543476964	chr8:10557559-10557560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs74429370	chr8:10557568-10557569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535219890	chr8:10557569-10557570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373535756	chr8:10557607-10557608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555023741	chr8:10557617-10557618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77129701	chr8:10557618-10557619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540595449	chr8:10557622-10557623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59276210	chr8:10557636-10557637	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577425855	chr8:10557639-10557640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367616046	chr8:10557649-10557650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs186456612	chr8:10557662-10557663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563141070	chr8:10557697-10557698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148093950	chr8:10557700-10557701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191237807	chr8:10557701-10557702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140949609	chr8:10557704-10557705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117295315	chr8:10557717-10557718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116653093	chr8:10557721-10557722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201803874	chr8:10557723-10557724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370382914	chr8:10557727-10557728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375171655	chr8:10557747-10557748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200464332	chr8:10557755-10557756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs57041981	chr8:10557760-10557761	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs374602916	chr8:10557763-10557764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569861669	chr8:10557770-10557771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374346316	chr8:10557776-10557777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535256632	chr8:10557792-10557793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368576265	chr8:10557812-10557813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565388774	chr8:10557828-10557829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371469734	chr8:10557831-10557832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374916501	chr8:10557832-10557833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368046652	chr8:10557870-10557871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371566388	chr8:10557876-10557877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376552859	chr8:10557879-10557880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368598870	chr8:10557886-10557887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534326990	chr8:10557891-10557892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546522798	chr8:10557893-10557894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369494449	chr8:10557894-10557895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79352245	chr8:10557895-10557896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374082262	chr8:10557913-10557914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377312489	chr8:10557934-10557935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559787601	chr8:10557936-10557937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199982496	chr8:10557947-10557948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369884261	chr8:10557948-10557949	Weak transcription	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
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10555000-10557800	Enhancers	Spleen	Spleen
2	chr8:10556800-10558200	Weak transcription	Esophagus	oesophagus
3	chr8:10558200-10558400	Enhancers	Esophagus	oesophagus
4	chr8:10558200-10558600	Weak transcription	Spleen	Spleen
5	chr8:10558800-10559000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:10559000-10559200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:10560400-10567800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:10562200-10562600	Enhancers	Esophagus	oesophagus
9	chr8:10563800-10568000	Enhancers	Hela-S3	cervix
10	chr8:10564000-10564600	ZNF genes & repeats	Spleen	Spleen

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