Variant report

Variant	nsv967016
Chromosome Location	chr3:50753594-50759813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:50757075-50757099	ProgFib	skin:	n/a	n/a
2	POLR2A	chr3:50753537-50753627	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:50754572-50754675	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr3:50755590-50755790	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000213587	TF binding region

Extended variants
information (count: 205 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550465224	chr3:50753595-50753596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568475079	chr3:50753615-50753616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145619434	chr3:50753627-50753628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111363906	chr3:50753668-50753669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557808839	chr3:50753685-50753686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535207578	chr3:50753691-50753692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202074084	chr3:50753746-50753747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187333363	chr3:50753754-50753755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562031749	chr3:50753755-50753756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191754707	chr3:50753780-50753781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113460690	chr3:50753802-50753803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575680002	chr3:50753876-50753877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541699554	chr3:50753884-50753885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545904786	chr3:50753916-50753917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138222070	chr3:50753954-50753955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528617896	chr3:50753972-50753973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183665108	chr3:50753982-50753983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561818477	chr3:50754002-50754003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1965263	chr3:50754004-50754005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35490586	chr3:50754018-50754019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66495609	chr3:50754025-50754026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs398038710	chr3:50754028-50754029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187367730	chr3:50754080-50754081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1463497	chr3:50754211-50754212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs141270380	chr3:50754252-50754253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568836046	chr3:50754270-50754271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1463496	chr3:50754276-50754277	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551126936	chr3:50754286-50754287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566556217	chr3:50754315-50754316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570935588	chr3:50754324-50754325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191815834	chr3:50754470-50754471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556652927	chr3:50754507-50754508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555448592	chr3:50754531-50754532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182550358	chr3:50754576-50754577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536076409	chr3:50754629-50754630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530477257	chr3:50754641-50754642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576041943	chr3:50754651-50754652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143287680	chr3:50754695-50754696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368779370	chr3:50754704-50754705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148335525	chr3:50754711-50754712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60132317	chr3:50754731-50754732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540329275	chr3:50754732-50754733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370086156	chr3:50754750-50754751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561862949	chr3:50754756-50754757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200378997	chr3:50754767-50754768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141250394	chr3:50754783-50754784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544335679	chr3:50754871-50754872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562429616	chr3:50754920-50754921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533119009	chr3:50754940-50754941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535896936	chr3:50754982-50754983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Kartagener syndrome	16639409	CNVD
Biliary cancer	19435499	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Urothelial cell carcinoma	18451213	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	20164919	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50746600-50755400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:50750800-50755600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr3:50755600-50755800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr3:50755800-50759200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:50756400-50759200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr3:50759000-50759800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:50759000-50759800	Enhancers	Brain Hippocampus Middle	brain
8	chr3:50759200-50759800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:50759400-50759600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:50759400-50759800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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