Variant report

Variant	rs12646841
Chromosome Location	chr4:92014627-92014628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10024581	0.81[CHB][hapmap]
rs10856882	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs11097298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097299	1.00[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap]
rs11097300	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11097302	0.85[CHB][hapmap]
rs11727458	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs11732866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12503626	0.81[CHB][hapmap]
rs12503952	1.00[CEU][hapmap];0.89[CHB][hapmap];0.92[JPT][hapmap]
rs12507087	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508962	0.81[CHB][hapmap]
rs12513240	0.86[CHD][hapmap]
rs13104402	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs13114157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13114934	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1541365	0.81[CHB][hapmap];0.83[CHD][hapmap]
rs17018021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap]
rs17018034	1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17018060	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs17018078	0.95[CHB][hapmap];0.97[CHD][hapmap];0.87[MEX][hapmap]
rs17018144	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs1988476	0.81[CHB][hapmap]
rs2107008	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs2189185	0.81[CHB][hapmap]
rs2870298	0.80[CHB][hapmap]
rs34502828	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34578055	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693259	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693260	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693263	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4693264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6532278	0.81[CHB][hapmap]
rs6532279	0.81[CHB][hapmap]
rs6847141	0.81[CHB][hapmap]
rs6855885	0.81[CHB][hapmap]
rs71597225	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs726587	0.81[CHB][hapmap]
rs7667634	0.80[CHB][hapmap];0.80[CHD][hapmap]
rs7683588	0.81[CHB][hapmap]
rs7683693	0.81[CHB][hapmap]
rs7685890	0.82[CHD][hapmap]
rs7686812	0.81[CHB][hapmap]
rs7698968	0.81[CHB][hapmap]
rs7699169	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs9998242	0.81[CHB][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	nsv491945	chr4:91753638-92240582	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879559	chr4:91918870-92152678	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv869023	chr4:91940838-92935383	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2757943	chr4:91946664-92146114	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
5	esv2759267	chr4:91946664-92146114	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1831682	chr4:91979094-92114281	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv528519	chr4:92005403-92017500	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv879561	chr4:92005403-92061748	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3448147	chr4:92011533-92275731	Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:92009400-92017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:92013600-92015000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:92014000-92015200	Weak transcription	NHEK	skin
4	chr4:92014400-92015400	Enhancers	Esophagus	oesophagus

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