Variant report

Variant	rs2331753
Chromosome Location	chr1:180711938-180711939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10737349	0.93[CEU][hapmap]
rs2944259	0.92[MEX][hapmap]
rs3903981	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap]
rs3908502	0.93[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs4652524	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs6425648	0.93[CEU][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap]
rs6656378	1.00[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs72707405	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7548318	0.92[MEX][hapmap]

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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:180704200-180713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:180704400-180712600	Weak transcription	K562	blood
3	chr1:180708400-180722400	Weak transcription	Aorta	Aorta
4	chr1:180710000-180717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:180710200-180712800	Weak transcription	Primary B cells from cord blood	blood
6	chr1:180710200-180714400	Weak transcription	Left Ventricle	heart
7	chr1:180710400-180712600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:180711400-180721200	Weak transcription	Osteobl	bone

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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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