Variant report

Variant	rs72897930
Chromosome Location	chr2:189057282-189057283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10931353	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10931357	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]
rs11694636	0.86[EUR][1000 genomes]
rs11695469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151605	1.00[AFR][1000 genomes];0.86[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]
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]
rs72909559	0.86[EUR][1000 genomes]
rs72909566	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909568	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909571	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909573	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909575	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909576	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909577	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909579	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909590	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909594	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909595	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]
rs72911782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189046200-189061200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:189052800-189057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:189054400-189063600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:189054600-189058200	Weak transcription	NH-A	brain
5	chr2:189054800-189057600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:189054800-189057600	Weak transcription	NHEK	skin
7	chr2:189056600-189058800	Enhancers	HMEC	breast
8	chr2:189057200-189058600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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