Variant report

Variant	rs10930568
Chromosome Location	chr2:173522073-173522074
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1010752	0.92[ASN][1000 genomes]
rs10930561	0.80[ASN][1000 genomes]
rs10930563	0.82[ASN][1000 genomes]
rs10930566	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10930567	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1097478	0.85[ASN][1000 genomes]
rs12052531	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464110	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465512	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465795	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12469378	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12617037	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12617921	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12618078	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12618132	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12620518	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621044	0.95[EUR][1000 genomes]
rs12693008	0.80[ASN][1000 genomes]
rs1530864	0.86[ASN][1000 genomes]
rs1530865	0.86[ASN][1000 genomes]
rs1531148	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1531149	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16860693	0.86[ASN][1000 genomes]
rs16860781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16860789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869923	0.81[ASN][1000 genomes]
rs2122833	1.00[EUR][1000 genomes]
rs2599260	0.81[ASN][1000 genomes]
rs2599261	0.81[ASN][1000 genomes]
rs2599262	0.81[ASN][1000 genomes]
rs2599263	0.81[ASN][1000 genomes]
rs2599264	0.81[ASN][1000 genomes]
rs2599265	0.81[ASN][1000 genomes]
rs2599266	0.81[ASN][1000 genomes]
rs2606062	0.81[ASN][1000 genomes]
rs2606063	0.81[ASN][1000 genomes]
rs2606065	0.81[ASN][1000 genomes]
rs2606066	0.81[ASN][1000 genomes]
rs2606067	0.81[ASN][1000 genomes]
rs2606070	0.81[ASN][1000 genomes]
rs28761282	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35892983	0.81[ASN][1000 genomes]
rs59578456	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59685886	1.00[AFR][1000 genomes]
rs60127617	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61121406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61505737	0.86[ASN][1000 genomes]
rs6709144	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6718681	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6719140	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6733671	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733679	0.81[ASN][1000 genomes]
rs70937083	0.86[ASN][1000 genomes]
rs70937084	0.86[ASN][1000 genomes]
rs8179584	0.80[ASN][1000 genomes]
rs836590	0.81[ASN][1000 genomes]
rs836608	0.86[ASN][1000 genomes]
rs836614	0.86[ASN][1000 genomes]
rs836616	0.86[ASN][1000 genomes]
rs836617	0.86[ASN][1000 genomes]
rs836628	0.94[ASN][1000 genomes]
rs836629	0.81[ASN][1000 genomes]
rs836630	0.81[ASN][1000 genomes]
rs836631	0.81[ASN][1000 genomes]
rs836634	0.81[ASN][1000 genomes]
rs836643	0.92[AMR][1000 genomes];1.00[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	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
5	esv3328535	chr2:173521957-173522207	Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3426980	chr2:173522002-173522162	Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173513600-173522200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173521000-173522400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:173521200-173522400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:173521400-173536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:173521800-173522400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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