Variant report

Variant	rs4939972
Chromosome Location	chr18:45324584-45324585
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10502889	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16958509	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs16958575	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16958579	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes]
rs16958590	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16958602	1.00[CEU][hapmap]
rs16958610	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap]
rs16958629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3813069	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]
rs4939632	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58137461	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61196230	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8085335	1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs8086227	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8098413	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9304357	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3425854	chr18:45188942-45336590	Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45320400-45324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:45322200-45324800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:45322200-45324800	Weak transcription	Ovary	ovary
4	chr18:45322200-45325000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr18:45322200-45325200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr18:45322200-45325200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:45322200-45325200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr18:45322200-45325400	Weak transcription	Spleen	Spleen
9	chr18:45322200-45325800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr18:45322200-45326000	Weak transcription	Right Atrium	heart
11	chr18:45322200-45329200	Weak transcription	Lung	lung
12	chr18:45322200-45331200	Weak transcription	Pancreas	Pancrea
13	chr18:45322600-45325200	Weak transcription	HUVEC	blood vessel
14	chr18:45323600-45329400	Enhancers	Breast Myoepithelial Primary Cells	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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