Variant report

Variant	nsv8065
Chromosome Location	chr7:18853289-18857141
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	chr7:18849215..18851990-chr7:18853742..18856142,3	K562	blood:
2	chr7:18850207..18851990-chr7:18854269..18856142,2	K562	blood:

Extended variants
information (count: 181 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9655161	chr7:18853305-18853306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564948273	chr7:18853324-18853325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532365642	chr7:18853340-18853341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547600764	chr7:18853366-18853367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565990769	chr7:18853370-18853371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545351490	chr7:18853415-18853416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536151377	chr7:18853457-18853458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2520352	chr7:18853458-18853459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs567558665	chr7:18853502-18853503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs143712917	chr7:18853508-18853509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556260701	chr7:18853511-18853512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577679912	chr7:18853536-18853537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77849161	chr7:18853542-18853543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529075265	chr7:18853565-18853566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562168345	chr7:18853624-18853625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79347118	chr7:18853681-18853682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180793820	chr7:18853704-18853705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536896476	chr7:18853706-18853707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184431203	chr7:18853716-18853717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75372561	chr7:18853749-18853750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146774553	chr7:18853755-18853756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532225925	chr7:18853764-18853765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190493313	chr7:18853765-18853766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74449405	chr7:18853784-18853785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548189363	chr7:18853794-18853795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182161268	chr7:18853803-18853804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7803235	chr7:18853829-18853830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111471668	chr7:18853846-18853847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549747251	chr7:18853855-18853856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185679834	chr7:18853864-18853865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538739405	chr7:18853867-18853868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559212538	chr7:18853883-18853884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554199026	chr7:18853967-18853968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2520353	chr7:18853972-18853973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs536827576	chr7:18854010-18854011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369064965	chr7:18854042-18854043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2520354	chr7:18854050-18854051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576796365	chr7:18854088-18854089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543471704	chr7:18854117-18854118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2520355	chr7:18854120-18854121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs2588637	chr7:18854186-18854187	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75170800	chr7:18854189-18854190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367655962	chr7:18854206-18854207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs35526519	chr7:18854280-18854281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559351577	chr7:18854314-18854315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370312359	chr7:18854328-18854329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140516218	chr7:18854341-18854342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75153546	chr7:18854363-18854364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150482453	chr7:18854388-18854389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12699985	chr7:18854401-18854402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18844000-18858000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:18854000-18874400	Weak transcription	Aorta	Aorta
3	chr7:18854200-18855400	Enhancers	Fetal Brain Male	brain
4	chr7:18855000-18856200	Enhancers	Fetal Heart	heart
5	chr7:18855000-18856400	Enhancers	Stomach Smooth Muscle	stomach
6	chr7:18855200-18855800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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