Variant report

Variant	rs7514912
Chromosome Location	chr1:76307558-76307559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:147)

rs_ID	r²[population]
rs1021462	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10732724	0.86[JPT][hapmap]
rs10782556	0.82[ASN][1000 genomes]
rs10873724	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873727	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873728	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873735	0.82[ASN][1000 genomes]
rs10873738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873804	0.81[JPT][hapmap]
rs11161447	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11161465	0.86[JPT][hapmap]
rs11161602	0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs11161700	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11161704	0.95[ASN][1000 genomes]
rs11161718	0.81[AFR][1000 genomes]
rs11161731	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11161790	0.90[ASN][1000 genomes]
rs11161795	0.90[ASN][1000 genomes]
rs11161852	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs11161887	0.85[JPT][hapmap]
rs1144328	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1144331	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144333	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144337	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144338	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1144339	0.95[ASN][1000 genomes]
rs1144341	0.95[ASN][1000 genomes]
rs1144342	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146592	0.83[ASN][1000 genomes]
rs1146593	0.84[ASN][1000 genomes]
rs1146602	0.88[ASN][1000 genomes]
rs1146613	0.82[ASN][1000 genomes]
rs1146616	0.89[ASN][1000 genomes]
rs1146625	0.85[ASN][1000 genomes]
rs1146645	0.94[ASN][1000 genomes]
rs1146647	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1146648	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1146649	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs1146651	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146652	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146656	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11579355	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12021750	0.83[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs12022011	0.82[CHB][hapmap]
rs12024086	0.90[ASN][1000 genomes]
rs12024645	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12027620	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12032051	0.83[CHB][hapmap]
rs12033058	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12033059	0.82[ASN][1000 genomes]
rs12044025	0.95[JPT][hapmap]
rs12044211	0.82[JPT][hapmap]
rs12045299	0.86[JPT][hapmap]
rs12045363	0.82[ASN][1000 genomes]
rs12076093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12078151	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12081710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12090712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12385715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12401729	0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs12403889	0.91[ASN][1000 genomes]
rs12405178	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12407107	0.82[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs12409592	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12410373	0.81[JPT][hapmap]
rs1250876	0.86[JPT][hapmap]
rs1250880	0.81[JPT][hapmap]
rs1250881	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1250882	0.95[ASN][1000 genomes]
rs1251078	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs1251079	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1251270	0.95[ASN][1000 genomes]
rs1251272	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1251273	0.95[ASN][1000 genomes]
rs1251274	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1251275	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12564772	0.82[ASN][1000 genomes]
rs12567390	0.81[CHB][hapmap]
rs12703	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12732495	0.87[CEU][hapmap];0.85[CHB][hapmap];0.91[JPT][hapmap]
rs12732722	0.86[JPT][hapmap]
rs12744608	0.81[JPT][hapmap]
rs12745456	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12748900	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1303870	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1498313	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1603734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1689271	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs1694428	0.86[CHB][hapmap]
rs17097634	0.82[ASN][1000 genomes]
rs17097681	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs17097695	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs17649675	0.82[JPT][hapmap]
rs1767459	0.81[ASN][1000 genomes]
rs1770513	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs1796812	0.86[JPT][hapmap]
rs1812589	0.98[ASN][1000 genomes]
rs1908089	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs2012536	0.94[ASN][1000 genomes]
rs2047435	0.88[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[YRI][hapmap]
rs2131558	0.82[ASN][1000 genomes]
rs2307077	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs34045364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34177389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34486572	0.82[ASN][1000 genomes]
rs35290302	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs35591768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36054685	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3737574	0.82[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs3765682	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs3795251	0.81[JPT][hapmap]
rs3819949	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs4347163	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949884	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5019550	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56350137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5745314	0.83[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs5745327	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs5745334	0.83[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs5745343	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745354	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745392	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745429	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs5745448	0.85[JPT][hapmap]
rs5745451	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap]
rs5745464	0.81[JPT][hapmap]
rs5745465	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs5745523	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs5745532	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs5745542	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs5745546	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs58552356	0.81[ASN][1000 genomes]
rs61676733	0.91[ASN][1000 genomes]
rs6687882	0.81[CHB][hapmap]
rs6695055	0.86[JPT][hapmap]
rs696679	0.87[CHB][hapmap]
rs699683	0.87[CHB][hapmap];0.80[ASN][1000 genomes]
rs699825	0.87[CHB][hapmap]
rs7516477	0.86[JPT][hapmap]
rs7525919	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7545057	0.82[JPT][hapmap]
rs7548391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548991	0.86[JPT][hapmap]
rs815309	0.80[ASN][1000 genomes]
rs931506	0.83[JPT][hapmap]
rs9660848	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
3	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
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1004669	chr1:76301198-76409451	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv871671	chr1:76304215-76391646	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76295800-76307800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:76306600-76308200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76307000-76307600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:76307000-76308800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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