Variant report

Variant	rs17047
Chromosome Location	chr12:29952290-29952291
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10743676	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10743677	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771582	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10843509	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843513	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843517	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843518	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10843523	0.88[ASN][1000 genomes]
rs11050438	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050442	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050447	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050452	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050458	0.96[ASN][1000 genomes]
rs11050482	0.81[ASN][1000 genomes]
rs11050483	0.81[ASN][1000 genomes]
rs12581400	0.81[ASN][1000 genomes]
rs1370872	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1370873	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1438509	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1530068	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1551929	0.99[ASN][1000 genomes]
rs1595523	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1595525	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1595527	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2118640	0.81[ASN][1000 genomes]
rs2200272	0.81[ASN][1000 genomes]
rs2200273	0.81[ASN][1000 genomes]
rs2350669	0.80[ASN][1000 genomes]
rs55976402	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56248200	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60515177	0.81[ASN][1000 genomes]
rs61343754	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61922604	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487850	0.81[ASN][1000 genomes]
rs6487851	0.81[ASN][1000 genomes]
rs7132819	0.80[ASN][1000 genomes]
rs7306759	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7952945	0.95[EUR][1000 genomes];0.94[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	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv557959	chr12:29944670-29959697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29946400-29953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:29948600-29952800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:29949400-29952800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:29950800-29952600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:29950800-29952600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:29950800-29956000	Weak transcription	Spleen	Spleen
7	chr12:29951400-29952600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:29951600-29952600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:29951600-29952800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:29952000-29952800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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