Variant report

Variant	rs2362788
Chromosome Location	chr2:208911818-208911819
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	chr2:208905718..208908340-chr2:208910863..208912416,2	K562	blood:

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:125)

rs_ID	r²[population]
rs10193505	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10193523	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10196408	0.86[EUR][1000 genomes]
rs10198217	0.88[EUR][1000 genomes]
rs10497891	0.89[EUR][1000 genomes]
rs10497892	0.90[EUR][1000 genomes]
rs10497894	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10804164	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932218	0.86[EUR][1000 genomes]
rs10932220	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10932221	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10932223	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10932225	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932226	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10932227	0.97[ASN][1000 genomes]
rs10932228	0.97[ASN][1000 genomes]
rs11676872	0.90[EUR][1000 genomes]
rs11679374	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687058	0.86[EUR][1000 genomes]
rs11687255	0.98[ASN][1000 genomes]
rs11688041	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11688936	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694308	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891423	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11893393	0.83[ASN][1000 genomes]
rs12465154	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12469400	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612391	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12694097	0.81[EUR][1000 genomes]
rs13002375	0.88[EUR][1000 genomes]
rs13002973	0.88[ASN][1000 genomes]
rs13005382	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13006024	0.87[EUR][1000 genomes]
rs13018735	0.89[ASN][1000 genomes]
rs13387203	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13420900	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13421034	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466185	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1466186	0.91[ASN][1000 genomes]
rs1545503	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16840362	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16840390	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16840392	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17598650	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17640827	0.92[ASN][1000 genomes]
rs17641035	0.96[ASN][1000 genomes]
rs1812697	0.87[EUR][1000 genomes]
rs1965865	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2044971	0.86[EUR][1000 genomes]
rs2084870	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084871	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100348	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2100349	0.87[EUR][1000 genomes]
rs2100351	0.86[EUR][1000 genomes]
rs2123294	0.86[EUR][1000 genomes]
rs2362782	0.87[EUR][1000 genomes]
rs2362783	0.90[EUR][1000 genomes]
rs2362786	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2362789	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2885599	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885600	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34025579	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34335027	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34354040	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35594487	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35687108	0.81[EUR][1000 genomes]
rs35726860	0.87[EUR][1000 genomes]
rs35783183	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35968595	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3795911	0.87[EUR][1000 genomes]
rs3795912	0.87[EUR][1000 genomes]
rs4021953	0.85[EUR][1000 genomes]
rs4507086	0.85[EUR][1000 genomes]
rs4673377	0.90[EUR][1000 genomes]
rs4675722	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4675723	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4675724	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4675725	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4675726	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55883450	0.92[ASN][1000 genomes]
rs56007263	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56340702	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56812613	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60679550	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6435403	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6435404	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6712527	0.90[EUR][1000 genomes]
rs6718363	0.87[EUR][1000 genomes]
rs6718487	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6723557	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6733166	0.81[ASN][1000 genomes]
rs6733857	0.87[EUR][1000 genomes]
rs67351199	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6741366	0.90[EUR][1000 genomes]
rs67417299	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6757323	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6757327	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7355275	0.86[EUR][1000 genomes]
rs7424035	0.93[ASN][1000 genomes]
rs7559294	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559399	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7560222	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7570588	0.90[EUR][1000 genomes]
rs7573629	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7582996	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7583013	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7585863	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7592525	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7595734	0.85[EUR][1000 genomes]
rs7599531	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7604044	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608939	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7609209	0.85[EUR][1000 genomes]
rs7609428	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs764299	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896636	0.90[EUR][1000 genomes]
rs921554	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs921555	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930746	0.86[EUR][1000 genomes]
rs966317	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9679132	0.86[EUR][1000 genomes]
rs9789442	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789446	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789586	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9789678	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208899000-208912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208907000-208912000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:208907000-208913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:208909800-208912000	Weak transcription	HepG2	liver
5	chr2:208911400-208912800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:208911800-208912800	Enhancers	HMEC	breast
7	chr2:208911800-208912800	Enhancers	NHEK	skin

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