Variant report

Variant	rs7680613
Chromosome Location	chr4:27045316-27045317
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	chr4:27044105..27046528-chr4:27050447..27052011,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10007132	0.90[CEU][hapmap]
rs10010180	0.85[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10030655	0.81[CEU][hapmap]
rs10433805	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.88[TSI][hapmap]
rs10470823	0.81[CEU][hapmap]
rs10939141	0.81[CEU][hapmap]
rs1122045	0.81[CEU][hapmap]
rs12152700	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12331378	0.90[CEU][hapmap]
rs13115054	0.85[CEU][hapmap]
rs13127603	0.81[CEU][hapmap]
rs28570016	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28668622	0.87[ASN][1000 genomes]
rs2871258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35499018	0.88[ASN][1000 genomes]
rs3762900	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs4692136	0.90[CEU][hapmap]
rs4692142	0.94[ASN][1000 genomes]
rs6448491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6830950	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6838936	0.88[ASN][1000 genomes]
rs7655631	0.85[CEU][hapmap]
rs7669818	0.88[ASN][1000 genomes]
rs7679403	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7681802	0.85[ASN][1000 genomes]
rs7693687	0.95[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs7695335	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7700108	0.86[CHB][hapmap]
rs9291487	0.90[CHB][hapmap]
rs9998009	0.85[CEU][hapmap]
rs9998971	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7680613	STIM2	Cis_1M	lymphoblastoid	RTeQTL
rs7680613	STIM2	cis	uninvolved skin	skin_eQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27042800-27045400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr4:27042800-27047600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr4:27044000-27045600	Enhancers	Liver	Liver
4	chr4:27045200-27045400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
5	chr4:27045200-27045400	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr4:27045200-27045800	ZNF genes & repeats	Left Ventricle	heart

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