Variant report

Variant	rs12027620
Chromosome Location	chr1:76176504-76176505
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	chr1:76175057..76177134-chr1:76227565..76229242,2	K562	blood:
2	chr1:76174957..76177088-chr1:76188686..76191585,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	Chromatin interaction
ENSG00000178193	Chromatin interaction

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1021462	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs10782556	0.89[ASN][1000 genomes]
rs10873738	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11161439	0.96[ASN][1000 genomes]
rs11161447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161465	0.82[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs11161600	0.87[ASN][1000 genomes]
rs11161602	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161605	0.86[ASN][1000 genomes]
rs11161731	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs11161852	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs11164015	0.85[ASN][1000 genomes]
rs11164035	0.94[CEU][hapmap];0.96[ASN][1000 genomes]
rs11164037	0.96[ASN][1000 genomes]
rs1144328	0.81[CHB][hapmap]
rs1144331	0.82[CHB][hapmap]
rs1144333	0.85[CHB][hapmap]
rs1144337	0.81[CHB][hapmap]
rs1144342	0.82[CHB][hapmap]
rs1146647	0.81[CHB][hapmap]
rs1146648	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs1146649	0.82[CHB][hapmap]
rs1146651	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1146652	0.82[CHB][hapmap]
rs12021750	1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12022011	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs12024645	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12031600	0.88[ASN][1000 genomes]
rs12032051	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12033058	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12033059	0.89[ASN][1000 genomes]
rs12034697	0.90[ASN][1000 genomes]
rs12044025	0.91[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12045299	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12045363	0.89[ASN][1000 genomes]
rs12049212	0.88[ASN][1000 genomes]
rs12076093	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs12090712	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12401729	0.86[CHB][hapmap]
rs12404553	0.90[ASN][1000 genomes]
rs12407107	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12409592	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs1250876	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1250880	0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs1251077	0.82[ASN][1000 genomes]
rs1251078	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs1251079	0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs1251272	0.82[CHB][hapmap]
rs1251274	0.84[CHB][hapmap]
rs12563737	0.90[ASN][1000 genomes]
rs12564772	0.89[ASN][1000 genomes]
rs12703	0.82[CHB][hapmap]
rs12724860	0.85[ASN][1000 genomes]
rs12727156	0.82[ASN][1000 genomes]
rs12728962	0.87[ASN][1000 genomes]
rs12732722	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12736447	0.84[ASN][1000 genomes]
rs12744608	0.82[CEU][hapmap];0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs12745456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12747967	0.96[ASN][1000 genomes]
rs12755811	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12756349	0.87[ASN][1000 genomes]
rs12757213	0.86[ASN][1000 genomes]
rs12757866	0.82[ASN][1000 genomes]
rs1303870	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs1391518	0.96[ASN][1000 genomes]
rs1391520	0.96[ASN][1000 genomes]
rs1498313	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs1535740	0.90[ASN][1000 genomes]
rs1591120	0.90[ASN][1000 genomes]
rs1603734	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1694428	0.82[JPT][hapmap]
rs17097634	0.89[ASN][1000 genomes]
rs1826978	0.86[ASN][1000 genomes]
rs1908089	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2047435	0.80[CHB][hapmap]
rs2131558	0.89[ASN][1000 genomes]
rs2307077	0.90[CHB][hapmap]
rs34486572	0.89[ASN][1000 genomes]
rs35290302	1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs35837767	0.96[ASN][1000 genomes]
rs3737574	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3765682	0.86[CHB][hapmap]
rs3819949	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs5745314	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5745327	0.82[CHB][hapmap]
rs5745334	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs5745343	0.81[CHB][hapmap]
rs5745353	0.85[ASN][1000 genomes]
rs5745392	0.82[CHB][hapmap]
rs5745426	0.88[ASN][1000 genomes]
rs5745429	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs5745448	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs5745451	0.81[CHB][hapmap]
rs5745464	0.90[CHB][hapmap]
rs5745465	0.86[CHB][hapmap]
rs5745523	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs5745532	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs5745542	0.86[CHB][hapmap]
rs58552356	0.88[ASN][1000 genomes]
rs6665431	0.87[ASN][1000 genomes]
rs6668963	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676182	0.90[ASN][1000 genomes]
rs6680389	0.82[ASN][1000 genomes]
rs6687882	0.95[CHB][hapmap]
rs6695055	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs67108483	0.96[ASN][1000 genomes]
rs71502708	0.83[ASN][1000 genomes]
rs71656856	0.82[ASN][1000 genomes]
rs7417486	0.90[ASN][1000 genomes]
rs7514912	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs7516477	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs7525919	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs7548391	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7548695	0.89[ASN][1000 genomes]
rs7548991	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs814897	0.80[ASN][1000 genomes]
rs815301	0.94[ASN][1000 genomes]
rs815305	0.93[ASN][1000 genomes]
rs9660848	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv870520	chr1:76088392-76206490	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	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
7	nsv871572	chr1:76161889-76208488	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76176400-76177000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr1:76176400-76178200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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