Variant report

Variant	rs17548011
Chromosome Location	chr5:146716827-146716828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10041697	0.94[CEU][hapmap];1.00[EUR][1000 genomes]
rs10064995	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs10070932	1.00[GIH][hapmap]
rs10077515	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs10079191	0.94[CEU][hapmap];0.93[GIH][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes]
rs10477336	1.00[GIH][hapmap]
rs10515580	1.00[GIH][hapmap]
rs11741401	0.86[CHB][hapmap];0.84[ASN][1000 genomes]
rs11742132	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs11748615	1.00[GIH][hapmap]
rs11951154	0.96[GIH][hapmap]
rs11954258	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.92[ASN][1000 genomes]
rs11955126	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12054990	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs12055338	0.89[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.84[ASN][1000 genomes]
rs13170279	0.93[CEU][hapmap];1.00[EUR][1000 genomes]
rs1364371	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17106458	0.94[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes]
rs17547843	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs2400294	1.00[GIH][hapmap]
rs4705165	1.00[GIH][hapmap]
rs4705166	1.00[GIH][hapmap]
rs62377743	0.92[ASN][1000 genomes]
rs6884181	0.93[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];1.00[EUR][1000 genomes]
rs6891535	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs7710326	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs918797	1.00[GIH][hapmap]
rs918798	1.00[GIH][hapmap]
rs9885145	1.00[EUR][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	nsv1015804	chr5:146066000-146788233	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv537915	chr5:146066000-146788233	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv519847	chr5:146166378-146812647	Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv599938	chr5:146169511-146806365	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv869238	chr5:146179403-146787986	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146707600-146725600	Weak transcription	Pancreas	Pancrea
2	chr5:146713800-146720800	Weak transcription	Fetal Kidney	kidney
3	chr5:146715800-146717200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:146715800-146717400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:146716200-146717600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:146716200-146717600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:146716400-146717000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr5:146716400-146717000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:146716400-146717400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:146716400-146717600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:146716400-146717600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:146716600-146717000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:146716600-146717200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr5:146716600-146717400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:146716600-146718600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:146716800-146717000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:146716800-146717800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:146716800-146718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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