Variant report

Variant	rs11810154
Chromosome Location	chr1:76239973-76239974
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1001160	1.00[CEU][hapmap]
rs10873797	1.00[CEU][hapmap]
rs11161699	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161848	1.00[CEU][hapmap]
rs11161887	0.87[CEU][hapmap]
rs11163915	0.82[EUR][1000 genomes]
rs11163967	0.83[EUR][1000 genomes]
rs11164042	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11578480	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11579752	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11584577	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588643	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1159215	1.00[CEU][hapmap]
rs12118229	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118306	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125933	0.82[EUR][1000 genomes]
rs12126155	0.82[EUR][1000 genomes]
rs12129523	0.81[EUR][1000 genomes]
rs12130334	0.81[EUR][1000 genomes]
rs12130832	0.96[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131344	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12131493	0.82[EUR][1000 genomes]
rs12132503	0.82[EUR][1000 genomes]
rs12132750	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs12138018	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12142247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145870	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1250876	0.87[CEU][hapmap]
rs1250880	0.83[CEU][hapmap]
rs1303870	0.87[CEU][hapmap]
rs1498311	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1628063	1.00[CEU][hapmap]
rs1630587	1.00[CEU][hapmap]
rs1689270	1.00[CEU][hapmap]
rs17585530	0.82[EUR][1000 genomes]
rs17647178	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17647711	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1770889	1.00[CEU][hapmap]
rs17848068	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1796813	1.00[CEU][hapmap]
rs1796815	1.00[CEU][hapmap]
rs1796827	1.00[CEU][hapmap]
rs1846233	0.91[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1856791	1.00[CEU][hapmap]
rs1908089	0.88[CEU][hapmap]
rs2029682	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2147039	0.82[EUR][1000 genomes]
rs4403585	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4638068	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4646960	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57249318	0.82[EUR][1000 genomes]
rs5745325	0.95[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5745331	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5745347	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5745383	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5745394	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5745430	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5745523	0.88[CEU][hapmap]
rs5745543	1.00[CEU][hapmap]
rs5745545	1.00[CEU][hapmap]
rs5745546	0.88[CEU][hapmap]
rs5745547	1.00[CEU][hapmap]
rs60550898	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656501	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6664254	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675212	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6704444	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs721204	0.94[ASN][1000 genomes]
rs72979226	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74090722	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74090730	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7516477	0.87[CEU][hapmap]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	esv2763563	chr1:76229839-76245374	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76227400-76249800	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:76232800-76243200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:76234000-76241000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:76234600-76241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:76238000-76241200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:76238200-76241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:76238200-76241400	Weak transcription	NHEK	skin

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