Variant report

Variant	nsv970164
Chromosome Location	chr6:132347231-132347731
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	6:132182612-132191683..6:132344161-132349036	Hela-S3	cervix:
2	6:132269655-132282174..6:132344161-132349036	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000118523	chromatin interactions
ENSG00000197594	chromatin interactions
ENSG00000227220	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549979179	chr6:132347233-132347234	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs568133321	chr6:132347295-132347296	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs371038625	chr6:132347299-132347300	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs535445467	chr6:132347301-132347302	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373412106	chr6:132347389-132347390	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs17060953	chr6:132347400-132347401	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs185913670	chr6:132347423-132347424	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs17060955	chr6:132347430-132347431	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558179178	chr6:132347446-132347447	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs529595499	chr6:132347456-132347457	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557934093	chr6:132347471-132347472	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs576126257	chr6:132347486-132347487	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs537162805	chr6:132347518-132347519	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs369216393	chr6:132347589-132347590	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs75833896	chr6:132347623-132347624	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs555486120	chr6:132347714-132347715	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141444102	chr6:132347720-132347721	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132343600-132348800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:132346400-132347400	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr6:132346400-132347800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:132346400-132349200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr6:132346600-132347400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:132346600-132347600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:132346600-132347600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:132346600-132347800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:132346800-132347600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:132346800-132347600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:132346800-132347800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:132346800-132347800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:132347200-132347600	Enhancers	HepG2	liver
14	chr6:132347200-132347800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:132347200-132348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:132347400-132348600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:132347400-132349000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:132347600-132348800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:132347600-132348800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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