Variant report

Variant	rs4592789
Chromosome Location	chr2:142139399-142139400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10166697	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10496879	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11885208	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886019	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886422	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11887563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11889224	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11889264	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11889834	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11891815	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893168	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11896841	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896923	1.00[ASN][1000 genomes]
rs11904688	1.00[YRI][hapmap]
rs13384231	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1402479	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16845902	1.00[JPT][hapmap]
rs16845906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845909	1.00[CHB][hapmap]
rs16845910	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845917	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845924	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845926	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845934	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16845935	1.00[JPT][hapmap]
rs34282949	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34603841	1.00[ASN][1000 genomes]
rs3946535	1.00[ASN][1000 genomes]
rs60803164	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6741352	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750408	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6755013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72979080	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580306	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7592660	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1009434	chr2:141832339-142156180	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2830111	chr2:142047759-142164422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3693337	chr2:142047759-142164422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2757835	chr2:142071391-142217569	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2759095	chr2:142071391-142245947	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv875231	chr2:142113241-142156180	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
10	nsv875232	chr2:142113241-142172366	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv2830236	chr2:142125733-142151405	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	nsv522203	chr2:142134134-142141415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142136200-142139600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:142138400-142139400	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142138400-142143200	Enhancers	Dnd41	blood
4	chr2:142138600-142139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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