Variant report

Variant	rs17795947
Chromosome Location	chr12:104284676-104284677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104277824..104279928-chr12:104282058..104285020,2	K562	blood:
2	chr12:104277028..104280742-chr12:104283520..104285730,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10778306	0.88[JPT][hapmap]
rs11111845	0.89[JPT][hapmap]
rs11612613	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12426161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12426183	0.87[EUR][1000 genomes]
rs12426202	0.90[EUR][1000 genomes]
rs12426220	0.95[EUR][1000 genomes]
rs12426382	0.82[CHB][hapmap]
rs12427041	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12580474	0.94[ASN][1000 genomes]
rs12582800	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582917	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs17034880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17034911	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17034914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs17034946	1.00[AFR][1000 genomes]
rs17180749	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs17795280	0.90[EUR][1000 genomes]
rs1882019	1.00[AFR][1000 genomes]
rs2576942	0.88[JPT][hapmap]
rs2722189	0.88[JPT][hapmap]
rs35193500	0.92[EUR][1000 genomes]
rs3751207	1.00[AFR][1000 genomes]
rs3751208	1.00[AFR][1000 genomes]
rs3829300	1.00[AFR][1000 genomes]
rs4135060	1.00[AFR][1000 genomes]
rs4135076	1.00[AFR][1000 genomes]
rs4135078	1.00[AFR][1000 genomes]
rs4135082	1.00[AFR][1000 genomes]
rs4135085	1.00[AFR][1000 genomes]
rs4135086	1.00[AFR][1000 genomes]
rs4135087	1.00[AFR][1000 genomes]
rs4135094	1.00[AFR][1000 genomes]
rs4135095	1.00[AFR][1000 genomes]
rs55919036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56040534	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56158534	0.85[ASN][1000 genomes]
rs59879726	0.96[ASN][1000 genomes]
rs60534873	1.00[AFR][1000 genomes]
rs6615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs728167	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9788014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9788136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[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	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv1824869	chr12:104279562-104286956	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1832179	chr12:104279562-104286956	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv18895	chr12:104279566-104287336	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv560041	chr12:104281921-104286036	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv560042	chr12:104282763-104286036	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv18491	chr12:104283731-104287745	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104278200-104285800	Enhancers	Fetal Thymus	thymus
2	chr12:104282600-104284800	Weak transcription	Pancreas	Pancrea
3	chr12:104284000-104299600	Weak transcription	GM12878-XiMat	blood
4	chr12:104284600-104288000	Weak transcription	Lung	lung
5	chr12:104284600-104294200	Weak transcription	Thymus	Thymus

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