Variant report

Variant	nsv981929
Chromosome Location	chr8:39013009-39015556
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 86 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549112889	chr8:39013033-39013034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183261254	chr8:39013043-39013044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34955037	chr8:39013098-39013099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12680934	chr8:39013187-39013188	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557754481	chr8:39013257-39013258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577546619	chr8:39013260-39013261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568948949	chr8:39013341-39013342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533931861	chr8:39013387-39013388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553792201	chr8:39013399-39013400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs55655420	chr8:39013416-39013417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55662278	chr8:39013417-39013418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573757515	chr8:39013419-39013420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186985177	chr8:39013435-39013436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530484131	chr8:39013454-39013455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191876890	chr8:39013467-39013468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7834886	chr8:39013474-39013475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143725927	chr8:39013482-39013483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72640068	chr8:39013514-39013515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74897934	chr8:39013624-39013625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528030794	chr8:39013669-39013670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112273815	chr8:39013670-39013671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs540192869	chr8:39013682-39013683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs184116389	chr8:39013701-39013702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs79341048	chr8:39013720-39013721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548818459	chr8:39013821-39013822	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs568970419	chr8:39013865-39013866	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531387087	chr8:39013872-39013873	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551600490	chr8:39013874-39013875	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs7823183	chr8:39013946-39013947	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533844882	chr8:39013950-39013951	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs558740882	chr8:39013979-39013980	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548145231	chr8:39013994-39013995	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11994167	chr8:39014059-39014060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs139348133	chr8:39014078-39014079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188041350	chr8:39014091-39014092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544485185	chr8:39014101-39014102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113912553	chr8:39014173-39014174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576527877	chr8:39014216-39014217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545261834	chr8:39014220-39014221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562489920	chr8:39014258-39014259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142594628	chr8:39014259-39014260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572728414	chr8:39014277-39014278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151011083	chr8:39014278-39014279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78499260	chr8:39014320-39014321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369119948	chr8:39014354-39014355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117432941	chr8:39014381-39014382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150092319	chr8:39014439-39014440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4636164	chr8:39014454-39014455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531477093	chr8:39014494-39014495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551249362	chr8:39014501-39014502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	21979893	CNVD
Prostate cancer	16573809	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
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	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
Colorectal cancer	16272173	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
Melanoma	18172304	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
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
abnormal development	18461090	CNVD
Breast cancer	16620391	CNVD
Adrenocortical carcinoma	18281524	CNVD
Rhabdomyosarcoma	16790082	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21138945	CNVD
Lung cancer	21569311	CNVD
Prader-willi syndrome	20588305	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Cancer	20164919	CNVD
Adenocarcinoma	19001599	CNVD
Non-small cell lung cancer	19001599	CNVD
Squamous cell cancer	19001599	CNVD
Cone-rod dystrophy	22138850	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38971200-39036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:39001600-39015000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:39001800-39013800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:39004000-39014800	Weak transcription	Left Ventricle	heart
5	chr8:39004200-39013600	Weak transcription	Aorta	Aorta
6	chr8:39006200-39018000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr8:39007800-39015200	Weak transcription	Ovary	ovary
8	chr8:39008400-39018600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:39012800-39013200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:39013600-39014000	ZNF genes & repeats	Aorta	Aorta
11	chr8:39013600-39015800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:39013800-39014000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:39013800-39018600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:39014000-39015200	Weak transcription	Aorta	Aorta
15	chr8:39015000-39015600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:39015000-39016200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:39015200-39015800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:39015200-39016200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:39015200-39016200	ZNF genes & repeats	Aorta	Aorta
20	chr8:39015200-39016200	ZNF genes & repeats	Ovary	ovary
21	chr8:39015400-39016000	ZNF genes & repeats	Adipose Nuclei	Adipose

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