Variant report

Variant	rs34466654
Chromosome Location	chr2:40768539-40768540
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12989012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12992540	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12992598	0.84[EUR][1000 genomes]
rs13001437	1.00[EUR][1000 genomes]
rs13003735	1.00[EUR][1000 genomes]
rs13018810	0.86[AMR][1000 genomes]
rs13019183	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13029763	0.82[EUR][1000 genomes]
rs13034467	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17026064	0.86[EUR][1000 genomes]
rs17026128	1.00[EUR][1000 genomes]
rs34106653	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34186538	0.86[EUR][1000 genomes]
rs34205507	0.86[EUR][1000 genomes]
rs34214503	0.86[EUR][1000 genomes]
rs34272753	0.86[EUR][1000 genomes]
rs34446865	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34802220	1.00[EUR][1000 genomes]
rs34895858	1.00[EUR][1000 genomes]
rs35306270	0.86[EUR][1000 genomes]
rs35422863	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35520511	0.86[EUR][1000 genomes]
rs35951633	0.81[ASN][1000 genomes]
rs4140728	0.86[EUR][1000 genomes]
rs57007180	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58398246	0.86[EUR][1000 genomes]
rs60794473	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61356646	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61702121	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62149456	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs67526252	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71441105	1.00[EUR][1000 genomes]
rs7561779	0.81[ASN][1000 genomes]
rs765190	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv873917	chr2:40710953-41015998	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1823469	chr2:40764167-40768902	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	esv1835048	chr2:40764167-40768902	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
6	nsv441753	chr2:40764167-40768902	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	esv3460444	chr2:40764798-40772027	Enhancers Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	esv3460445	chr2:40764798-40772027	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40757800-40774800	Weak transcription	Small Intestine	intestine
2	chr2:40767600-40768800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:40767800-40774200	Weak transcription	Fetal Intestine Small	intestine
4	chr2:40768200-40770400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:40768200-40770400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:40768400-40768600	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:40768400-40770200	Weak transcription	Fetal Heart	heart

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