Variant report

Variant	rs10930569
Chromosome Location	chr2:173553567-173553568
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173544520..173547320-chr2:173551683..173553989,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10166642	0.83[AFR][1000 genomes]
rs10190099	0.84[AFR][1000 genomes]
rs10210195	0.85[AFR][1000 genomes]
rs1097478	0.88[ASN][1000 genomes]
rs1133602	0.80[ASN][1000 genomes]
rs11894913	0.85[AFR][1000 genomes]
rs11898565	0.85[AFR][1000 genomes]
rs11899594	0.85[AFR][1000 genomes]
rs12052531	0.83[ASN][1000 genomes]
rs12464110	0.82[ASN][1000 genomes]
rs12465795	0.82[ASN][1000 genomes]
rs12469378	0.81[ASN][1000 genomes]
rs12476204	0.81[ASN][1000 genomes]
rs12617921	0.81[ASN][1000 genomes]
rs12618078	0.81[ASN][1000 genomes]
rs12618132	0.81[ASN][1000 genomes]
rs12693008	0.84[ASN][1000 genomes]
rs13015260	0.81[ASN][1000 genomes]
rs13024563	0.80[ASN][1000 genomes]
rs13420845	0.85[AFR][1000 genomes]
rs13423020	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13427701	0.86[AFR][1000 genomes]
rs13427921	0.85[AFR][1000 genomes]
rs13432176	0.85[AFR][1000 genomes]
rs1531150	0.80[ASN][1000 genomes]
rs16860737	0.81[ASN][1000 genomes]
rs16860741	0.82[ASN][1000 genomes]
rs16860789	0.81[ASN][1000 genomes]
rs1868901	0.80[ASN][1000 genomes]
rs1869923	0.85[ASN][1000 genomes]
rs2599260	0.85[ASN][1000 genomes]
rs2599261	0.85[ASN][1000 genomes]
rs2599262	0.85[ASN][1000 genomes]
rs2599263	0.85[ASN][1000 genomes]
rs2599264	0.85[ASN][1000 genomes]
rs2599265	0.85[ASN][1000 genomes]
rs2599266	0.85[ASN][1000 genomes]
rs2606062	0.85[ASN][1000 genomes]
rs2606063	0.85[ASN][1000 genomes]
rs2606064	0.84[ASN][1000 genomes]
rs2606065	0.85[ASN][1000 genomes]
rs2606066	0.85[ASN][1000 genomes]
rs2606067	0.85[ASN][1000 genomes]
rs2606070	0.85[ASN][1000 genomes]
rs35892983	0.82[ASN][1000 genomes]
rs4395226	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57104776	0.85[AFR][1000 genomes]
rs59578456	0.82[ASN][1000 genomes]
rs6433376	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6709144	0.82[ASN][1000 genomes]
rs6733671	0.82[ASN][1000 genomes]
rs6733679	0.85[ASN][1000 genomes]
rs836590	0.85[ASN][1000 genomes]
rs836598	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs836608	0.90[ASN][1000 genomes]
rs836614	0.90[ASN][1000 genomes]
rs836616	0.90[ASN][1000 genomes]
rs836617	0.90[ASN][1000 genomes]
rs836629	0.85[ASN][1000 genomes]
rs836630	0.85[ASN][1000 genomes]
rs836631	0.85[ASN][1000 genomes]
rs836634	0.85[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	esv274888	chr2:173550156-173559068	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173539600-173554200	Weak transcription	Primary T cells from cord blood	blood
2	chr2:173549800-173557400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:173550400-173557200	Weak transcription	Fetal Heart	heart
4	chr2:173552000-173557400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:173553400-173556800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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