Variant report

Variant	rs4849153
Chromosome Location	chr2:113848654-113848655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113844262..113847117-chr2:113847317..113850022,2	MCF-7	breast:
2	chr2:113840278..113841811-chr2:113847020..113849083,2	K562	blood:
3	chr2:113844198..113846666-chr2:113848346..113851193,3	K562	blood:

Variant related genes	Relation type
ENSG00000201805	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10207930	0.81[JPT][hapmap]
rs11123161	0.80[ASN][1000 genomes]
rs11123162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687782	0.81[JPT][hapmap]
rs12475887	0.85[JPT][hapmap]
rs1542176	0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs1630153	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs1867829	0.90[JPT][hapmap]
rs2029582	0.80[JPT][hapmap]
rs2087705	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2637988	0.82[CHB][hapmap]
rs315919	0.86[CHB][hapmap]
rs315925	0.90[JPT][hapmap]
rs315927	0.96[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs315929	0.85[JPT][hapmap]
rs315930	0.93[ASN][1000 genomes]
rs315931	0.91[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs315932	0.86[JPT][hapmap]
rs315933	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4575729	0.81[ASN][1000 genomes]
rs4848314	0.91[JPT][hapmap]
rs4849152	0.90[JPT][hapmap]
rs6728590	0.81[ASN][1000 genomes]
rs6731551	0.81[ASN][1000 genomes]
rs6738377	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs7561598	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113847800-113855800	Weak transcription	Esophagus	oesophagus

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