Variant report

Variant	rs836616
Chromosome Location	chr2:173512756-173512757
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10181851	0.80[CHB][hapmap]
rs1075638	0.84[ASN][1000 genomes]
rs10930562	0.81[CHB][hapmap];0.82[CHD][hapmap];0.80[ASN][1000 genomes]
rs10930565	0.84[ASN][1000 genomes]
rs10930566	0.81[ASN][1000 genomes]
rs10930567	0.81[ASN][1000 genomes]
rs10930568	0.86[ASN][1000 genomes]
rs10930569	0.90[ASN][1000 genomes]
rs1097478	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1133602	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11904158	0.81[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs12052531	0.80[ASN][1000 genomes]
rs12465512	0.81[ASN][1000 genomes]
rs12476204	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12617037	0.86[ASN][1000 genomes]
rs12620518	0.86[ASN][1000 genomes]
rs12693008	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015260	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13019331	0.84[ASN][1000 genomes]
rs13024563	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13401676	0.88[ASN][1000 genomes]
rs13423020	0.87[ASN][1000 genomes]
rs1531150	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16860737	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16860741	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16860781	0.84[ASN][1000 genomes]
rs16860789	0.82[ASN][1000 genomes]
rs1868901	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1869923	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599260	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599261	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599262	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599263	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599264	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599265	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599266	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599268	0.81[ASN][1000 genomes]
rs2606062	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606063	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606064	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2606065	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606066	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606067	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2606070	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28761282	0.85[ASN][1000 genomes]
rs34051646	0.84[ASN][1000 genomes]
rs35892983	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3765065	0.81[CHB][hapmap]
rs3769321	0.81[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs4395226	0.87[ASN][1000 genomes]
rs60127617	0.86[ASN][1000 genomes]
rs61121406	0.84[ASN][1000 genomes]
rs62167835	0.83[ASN][1000 genomes]
rs6433376	0.88[ASN][1000 genomes]
rs6710129	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs6718681	0.81[ASN][1000 genomes]
rs6719140	0.81[ASN][1000 genomes]
rs6731354	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6733679	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6738196	0.81[CHB][hapmap];0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs7584769	0.84[ASN][1000 genomes]
rs836590	0.94[ASN][1000 genomes]
rs836608	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836614	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs836620	0.89[CEU][hapmap];0.82[TSI][hapmap]
rs836621	0.84[CEU][hapmap]
rs836622	0.83[CEU][hapmap]
rs836628	0.81[ASN][1000 genomes]
rs836629	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836630	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836631	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836634	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs836643	0.83[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762962	chr2:173493078-173527311	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs836616	CYBRD1	cis	parietal	SCAN
rs836616	LASS6	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173499800-173513000	Weak transcription	Pancreas	Pancrea
2	chr2:173509200-173519400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:173511200-173512800	Enhancers	NHDF-Ad	bronchial
4	chr2:173511200-173513400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:173511600-173512800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:173511800-173512800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:173511800-173512800	Enhancers	NH-A	brain
8	chr2:173511800-173513000	Enhancers	HUVEC	blood vessel
9	chr2:173511800-173513000	Enhancers	NHLF	lung
10	chr2:173511800-173513600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:173512000-173512800	Enhancers	HSMM	muscle
12	chr2:173512000-173512800	Enhancers	NHEK	skin

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