Variant report

Variant	rs504996
Chromosome Location	chr1:59107914-59107915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs232773	1.00[YRI][hapmap]
rs232850	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs232868	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs232883	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2746078	1.00[AMR][1000 genomes]
rs2746079	1.00[AMR][1000 genomes]
rs2746080	1.00[AMR][1000 genomes]
rs2811859	1.00[AMR][1000 genomes]
rs2811864	1.00[AMR][1000 genomes]
rs2811871	1.00[AMR][1000 genomes]
rs2811889	1.00[AMR][1000 genomes]
rs2811892	1.00[AMR][1000 genomes]
rs471446	0.89[AMR][1000 genomes]
rs472129	0.89[AMR][1000 genomes]
rs489260	0.89[AMR][1000 genomes]
rs500863	0.89[AMR][1000 genomes]
rs519331	0.89[AMR][1000 genomes]
rs522103	1.00[AMR][1000 genomes]
rs528387	0.89[AMR][1000 genomes]
rs528642	0.89[AMR][1000 genomes]
rs529289	0.89[AMR][1000 genomes]
rs553540	0.89[AMR][1000 genomes]
rs568320	0.89[AMR][1000 genomes]
rs583854	0.89[AMR][1000 genomes]
rs586509	0.89[AMR][1000 genomes]
rs595083	0.89[AMR][1000 genomes]
rs631352	0.89[AMR][1000 genomes]
rs646018	0.89[AMR][1000 genomes]
rs662989	0.89[AMR][1000 genomes]
rs674205	0.89[AMR][1000 genomes]
rs675496	0.89[AMR][1000 genomes]
rs675919	0.89[AMR][1000 genomes]
rs678233	0.89[AMR][1000 genomes]
rs678283	0.89[AMR][1000 genomes]
rs679619	0.89[AMR][1000 genomes]
rs688158	0.89[AMR][1000 genomes]

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	nsv1003930	chr1:58930444-59157038	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59093200-59115400	Weak transcription	NHEK	skin
2	chr1:59096000-59121600	Weak transcription	HUVEC	blood vessel
3	chr1:59096600-59121600	Weak transcription	Gastric	stomach
4	chr1:59101600-59109400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:59102000-59130400	Weak transcription	Aorta	Aorta
6	chr1:59103600-59115200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:59104600-59115600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59104600-59115600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:59107200-59110200	Weak transcription	Primary T cells from cord blood	blood

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Input of quick search could be:

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

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