Variant report

Variant	nsv610935
Chromosome Location	chr8:35432666-35433621
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	chr8:35431521..35433590-chr8:35435377..35437047,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537412262	chr8:35432687-35432688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556460423	chr8:35432706-35432707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577894074	chr8:35432735-35432736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570924767	chr8:35432769-35432770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146399232	chr8:35432779-35432780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538202131	chr8:35432783-35432784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554060831	chr8:35432786-35432787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375699335	chr8:35432842-35432843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185462496	chr8:35432845-35432846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138124596	chr8:35432863-35432864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561391612	chr8:35432883-35432884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149565870	chr8:35432966-35432967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535964062	chr8:35432969-35432970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555956206	chr8:35432977-35432978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543813394	chr8:35433005-35433006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562802845	chr8:35433033-35433034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2067700	chr8:35433083-35433084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs541727047	chr8:35433086-35433087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551594162	chr8:35433094-35433095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566546365	chr8:35433095-35433096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558287599	chr8:35433128-35433129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548818756	chr8:35433139-35433140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566994147	chr8:35433173-35433174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144262739	chr8:35433187-35433188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77054317	chr8:35433191-35433192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577700426	chr8:35433216-35433217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571644999	chr8:35433224-35433225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148743533	chr8:35433255-35433256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554396910	chr8:35433263-35433264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75490519	chr8:35433316-35433317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144764341	chr8:35433326-35433327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536823092	chr8:35433388-35433389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117538620	chr8:35433394-35433395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576586349	chr8:35433395-35433396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2589335	chr8:35433440-35433441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565270594	chr8:35433518-35433519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115883440	chr8:35433601-35433602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578071172	chr8:35433617-35433618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2589755	chr8:35433621-35433622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	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
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
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
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
Seminomas	18059402	CNVD
Lung cancer	18438408	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
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
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	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
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35419000-35439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:35419000-35439600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:35423800-35439400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:35423800-35439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35424200-35439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:35424200-35439400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:35431400-35439800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:35432600-35432800	Enhancers	Fetal Brain Male	brain
9	chr8:35432800-35433000	Enhancers	Brain Cingulate Gyrus	brain

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