Variant report

Variant	rs72911782
Chromosome Location	chr2:189024005-189024006
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189019149..189021325-chr2:189022455..189024861,2	K562	blood:
2	chr2:189016643..189020649-chr2:189022455..189025667,3	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10931353	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11673994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11674292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11678294	0.80[EUR][1000 genomes]
rs11678501	1.00[EUR][1000 genomes]
rs11678729	0.80[EUR][1000 genomes]
rs11679720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11680235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11683340	0.80[EUR][1000 genomes]
rs11685495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11687577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11689113	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11691788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185714	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12989776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393442	0.86[EUR][1000 genomes]
rs72895717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72895727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72895757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72897930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72897939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72901682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72901686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72903509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903537	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72903582	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903583	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903592	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72903855	1.00[AFR][1000 genomes]
rs72903871	1.00[AFR][1000 genomes]
rs72903876	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903884	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903890	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903892	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72903902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72905529	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72905551	0.80[EUR][1000 genomes]
rs72905569	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72905578	0.86[EUR][1000 genomes]
rs72905586	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72905596	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72905601	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907612	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907614	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907632	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907664	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907686	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907691	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907697	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72907970	1.00[EUR][1000 genomes]
rs72907987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909505	1.00[AFR][1000 genomes]
rs72909509	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909519	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909524	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909525	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909527	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909531	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909549	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909551	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909552	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909553	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911724	1.00[EUR][1000 genomes]
rs72911729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288154	0.86[EUR][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	nsv533353	chr2:188498301-189024655	Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv875603	chr2:188923773-189025977	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1002714	chr2:188934297-189025084	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv875604	chr2:188957640-189043137	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
6	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189004600-189026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:189021000-189025200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:189022600-189024400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:189022800-189024600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:189024000-189024600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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