Variant report

Variant	rs72700626
Chromosome Location	chr1:159787367-159787368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:159785315..159787463-chr1:159895003..159896696,2	MCF-7	breast:
2	chr1:159785033..159789161-chr1:159789776..159794459,5	K562	blood:

Variant related genes	Relation type
ENSG00000158710	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11591079	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12088352	0.87[EUR][1000 genomes]
rs4656246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55739401	0.84[EUR][1000 genomes]
rs55742616	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55997732	0.80[EUR][1000 genomes]
rs60205880	0.84[EUR][1000 genomes]
rs61821619	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821621	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821622	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821626	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821627	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821659	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823163	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61823165	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6427496	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72700609	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700610	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700611	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700615	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72700628	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72700632	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72700634	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7519854	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527418	0.85[EUR][1000 genomes]
rs7528163	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549918	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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	nsv1005195	chr1:159452759-159910337	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv521503	chr1:159762120-159795478	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159774800-159796000	Weak transcription	Right Atrium	heart
2	chr1:159775800-159793400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:159779600-159794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:159785400-159792800	Weak transcription	Spleen	Spleen
5	chr1:159785800-159791000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:159786800-159787400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:159786800-159789400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:159787000-159788600	Enhancers	K562	blood
9	chr1:159787200-159787600	Enhancers	Fetal Intestine Large	intestine
10	chr1:159787200-159787600	Enhancers	Osteobl	bone
11	chr1:159787200-159788400	Enhancers	Stomach Mucosa	stomach

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