Variant report

Variant	rs4636451
Chromosome Location	chr1:223665854-223665855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10157965	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261292	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11261293	0.92[EUR][1000 genomes]
rs12123913	0.87[EUR][1000 genomes]
rs12138605	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140078	0.90[EUR][1000 genomes]
rs12141379	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141649	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453033	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57041991	0.87[EUR][1000 genomes]
rs6661598	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689010	0.88[EUR][1000 genomes]
rs6698392	1.00[ASN][1000 genomes]
rs6702233	0.88[EUR][1000 genomes]
rs7414159	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74148031	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531954	0.90[AMR][1000 genomes];1.00[EUR][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	nsv832670	chr1:223561771-223683381	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1013538	chr1:223626487-223670776	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 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	chr1:223661400-223671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:223661400-223674000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:223664400-223666000	Enhancers	Placenta	Placenta
4	chr1:223664800-223666600	Enhancers	HMEC	breast
5	chr1:223665200-223666000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:223665400-223666000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:223665400-223666000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:223665600-223666000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:223665800-223667200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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