Variant report

Variant	rs1071171
Chromosome Location	chr1:223410460-223410461
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34424827	0.86[EUR][1000 genomes]
rs851143	0.89[EUR][1000 genomes]
rs851202	0.80[EUR][1000 genomes]
rs851203	0.80[EUR][1000 genomes]
rs851207	0.90[EUR][1000 genomes]
rs851216	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:223407600-223419400	Weak transcription	Esophagus	oesophagus
2	chr1:223407800-223416600	Weak transcription	Stomach Mucosa	stomach
3	chr1:223407800-223419600	Weak transcription	Right Atrium	heart
4	chr1:223408400-223413600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:223408400-223413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:223408400-223413800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:223408400-223417400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:223410200-223410800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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