Variant report

Variant	rs228137
Chromosome Location	chr6:55627099-55627100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11537721	0.96[ASN][1000 genomes]
rs12174222	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16869604	0.85[AFR][1000 genomes]
rs17676046	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2065025	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs228140	0.96[ASN][1000 genomes]
rs3756990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59831864	0.85[AFR][1000 genomes]
rs6910005	0.96[ASN][1000 genomes]
rs7773142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9357878	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9370465	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9370466	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034037	chr6:55222409-56069600	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1026411	chr6:55372845-55653498	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv885909	chr6:55539010-55674338	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1019228	chr6:55608688-55653498	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2752670	chr6:55614978-55781605	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55616200-55627800	Weak transcription	Fetal Brain Male	brain
2	chr6:55618200-55672400	Weak transcription	Placenta	Placenta
3	chr6:55623200-55631400	Weak transcription	Fetal Heart	heart
4	chr6:55623800-55628200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:55624600-55637200	Weak transcription	Hela-S3	cervix
6	chr6:55625400-55646600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:55626600-55634800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:55626800-55632200	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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