Variant report

Variant	rs72950867
Chromosome Location	chr2:113858671-113858672
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	chr2:113856768..113859655-chr2:113862329..113864158,2	K562	blood:
2	chr2:113858124..113860722-chr2:113869121..113871284,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10185781	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123159	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11677407	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11681884	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11683132	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684277	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684289	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11684371	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686467	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11686511	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11688270	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690459	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11886743	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11886754	0.95[ASN][1000 genomes]
rs11887249	0.82[EUR][1000 genomes]
rs11891198	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11893386	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11897481	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11897709	0.82[EUR][1000 genomes]
rs11898158	0.85[EUR][1000 genomes]
rs11899198	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390577	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13406085	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410552	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13432148	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1623119	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042750	0.85[EUR][1000 genomes]
rs17042810	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17042853	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17042888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17042905	0.95[ASN][1000 genomes]
rs17042917	0.93[ASN][1000 genomes]
rs17486819	0.91[EUR][1000 genomes]
rs1992761	0.80[EUR][1000 genomes]
rs1992762	0.82[EUR][1000 genomes]
rs1992763	0.80[EUR][1000 genomes]
rs2121327	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2121329	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28928270	0.85[EUR][1000 genomes]
rs34466405	0.82[EUR][1000 genomes]
rs34517213	0.80[EUR][1000 genomes]
rs3811053	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3811054	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55888413	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56060225	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56948778	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58036696	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58153729	0.95[ASN][1000 genomes]
rs58187820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58922543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59032902	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60341065	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60562399	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60924024	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60981695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61366770	0.95[ASN][1000 genomes]
rs61546073	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72946783	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72946788	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72950839	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72950861	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72950883	0.95[ASN][1000 genomes]
rs73955148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73955151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561080	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1003928	chr2:113846503-113887782	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3323154	chr2:113855481-113859679	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 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	chr2:113857200-113861200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:113858400-113858800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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