Variant report

Variant	rs12476137
Chromosome Location	chr2:73088056-73088057
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:42528736..42531443-chr2:73087371..73089045,2	MCF-7	breast:
2	chr2:73051752..73054246-chr2:73085621..73088585,2	MCF-7	breast:
3	chr2:73087670..73090180-chr2:73094273..73097260,2	K562	blood:

Variant related genes	Relation type
ENSG00000144036	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10496187	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11126381	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11126384	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11126386	0.85[ASN][1000 genomes]
rs11686536	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11693376	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12479094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12619068	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12619565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12994646	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13008515	0.91[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1396107	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1508060	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1532970	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1876487	0.84[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs1876488	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1876489	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1876490	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2063168	0.88[ASN][1000 genomes]
rs2135982	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420882	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35666345	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4852897	0.88[ASN][1000 genomes]
rs55749009	0.91[ASN][1000 genomes]
rs55802296	0.88[ASN][1000 genomes]
rs57264301	0.85[ASN][1000 genomes]
rs59615613	0.85[ASN][1000 genomes]
rs60584321	0.85[ASN][1000 genomes]
rs6546787	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716335	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6727086	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6744758	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758539	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758802	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761253	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67919884	0.85[ASN][1000 genomes]
rs67927720	0.85[ASN][1000 genomes]
rs7567893	0.88[ASN][1000 genomes]
rs7583914	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7593084	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7600718	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7604402	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7607226	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr2:73079000-73088200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:73082200-73088200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:73085000-73088200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:73085000-73089200	Weak transcription	Fetal Heart	heart
5	chr2:73087000-73089200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:73087000-73089200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:73087200-73088200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:73087200-73089200	Weak transcription	NHEK	skin
9	chr2:73088000-73088200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
10	chr2:73088000-73088400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:73088000-73088800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links