Variant report

Variant	nsv511950
Chromosome Location	chr7:16171351-16174471
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	chr7:16163332..16166682-chr7:16168579..16171460,3	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188237385	chr7:16171364-16171365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73056339	chr7:16171376-16171377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs192801635	chr7:16171387-16171388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538486949	chr7:16171425-16171426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558964072	chr7:16171441-16171442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577462462	chr7:16171444-16171445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117266697	chr7:16171457-16171458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184906450	chr7:16171489-16171490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189833091	chr7:16171494-16171495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542505807	chr7:16171527-16171528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557081655	chr7:16171543-16171544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531085009	chr7:16171544-16171545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546125990	chr7:16171558-16171559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536129048	chr7:16171567-16171568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532107799	chr7:16171578-16171579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549952764	chr7:16171585-16171586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181594524	chr7:16171589-16171590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565311178	chr7:16171654-16171655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184598645	chr7:16171685-16171686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77959937	chr7:16171715-16171716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377504831	chr7:16171754-16171755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548426595	chr7:16171761-16171762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569856115	chr7:16171774-16171775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537249407	chr7:16171775-16171776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558512300	chr7:16171776-16171777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570942781	chr7:16171791-16171792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189437565	chr7:16171804-16171805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7797685	chr7:16171859-16171860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs7780782	chr7:16171881-16171882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535031156	chr7:16171892-16171893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535483466	chr7:16171929-16171930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145485193	chr7:16171933-16171934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575078367	chr7:16171965-16171966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs180781830	chr7:16172063-16172064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35726433	chr7:16172122-16172123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377328404	chr7:16172149-16172150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1295194	chr7:16172161-16172162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186115148	chr7:16172246-16172247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191404920	chr7:16172278-16172279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374013912	chr7:16172329-16172330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573125470	chr7:16172341-16172342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11971688	chr7:16172366-16172367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181083949	chr7:16172384-16172385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529597942	chr7:16172544-16172545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547924992	chr7:16172591-16172592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186588716	chr7:16172688-16172689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534674270	chr7:16172693-16172694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1117317	chr7:16172711-16172712	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557584272	chr7:16172936-16172937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78429262	chr7:16172941-16172942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	19492091	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	19805367	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16169800-16183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:16170400-16171600	Enhancers	Left Ventricle	heart
3	chr7:16170400-16171600	Enhancers	Right Ventricle	heart
4	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:16170400-16171800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:16170600-16171400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:16170800-16174800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:16170800-16175400	Weak transcription	HSMMtube	muscle
9	chr7:16171000-16174800	Weak transcription	NHDF-Ad	bronchial
10	chr7:16171400-16175400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:16171800-16174400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:16171800-16174800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:16174400-16175800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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