Variant report

Variant	rs72808216
Chromosome Location	chr2:64041459-64041460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64039181..64043797-chr2:64066250..64069522,4	MCF-7	breast:
2	chr2:64039751..64042617-chr2:64066730..64068946,3	MCF-7	breast:
3	chr2:64040046..64042869-chr2:64061752..64064399,2	K562	blood:
4	chr2:64040180..64042427-chr2:64066640..64069360,2	K562	blood:
5	chr2:64037713..64041546-chr2:64062899..64066389,4	K562	blood:

Variant related genes	Relation type
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10175674	1.00[ASN][1000 genomes]
rs10865342	1.00[ASN][1000 genomes]
rs12466966	0.84[EUR][1000 genomes]
rs12475294	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12988017	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12990604	0.85[EUR][1000 genomes]
rs12993544	0.90[EUR][1000 genomes]
rs12999675	0.90[EUR][1000 genomes]
rs13009774	0.83[EUR][1000 genomes]
rs13010817	0.90[EUR][1000 genomes]
rs13014781	0.81[EUR][1000 genomes]
rs13023542	0.80[EUR][1000 genomes]
rs13025640	0.81[EUR][1000 genomes]
rs13028805	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13034260	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1345479	0.90[EUR][1000 genomes]
rs17555655	0.87[EUR][1000 genomes]
rs17562312	0.82[EUR][1000 genomes]
rs17620012	0.90[EUR][1000 genomes]
rs2054120	0.84[EUR][1000 genomes]
rs2287361	0.88[EUR][1000 genomes]
rs34145077	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34200806	0.85[EUR][1000 genomes]
rs34239752	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34512058	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34900788	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35058898	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35253921	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35521527	0.86[EUR][1000 genomes]
rs35552326	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35648996	0.80[EUR][1000 genomes]
rs35810427	0.82[EUR][1000 genomes]
rs35972278	0.84[EUR][1000 genomes]
rs35975566	0.85[EUR][1000 genomes]
rs36099158	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3815616	0.90[EUR][1000 genomes]
rs3934536	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4075010	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4482470	0.90[EUR][1000 genomes]
rs4544421	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4599090	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4671070	0.96[ASN][1000 genomes]
rs4671072	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4671537	0.87[EUR][1000 genomes]
rs66476638	0.84[EUR][1000 genomes]
rs66595136	0.86[EUR][1000 genomes]
rs66650505	0.84[EUR][1000 genomes]
rs66660401	0.87[EUR][1000 genomes]
rs6710230	1.00[ASN][1000 genomes]
rs67366434	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6757016	1.00[ASN][1000 genomes]
rs67962955	0.86[EUR][1000 genomes]
rs72808218	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72808231	0.90[EUR][1000 genomes]
rs72808248	0.85[EUR][1000 genomes]
rs72808254	0.84[EUR][1000 genomes]
rs72808262	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1013375	chr2:63969820-64231550	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64029200-64045200	Weak transcription	Adipose Nuclei	Adipose
2	chr2:64031400-64043600	Weak transcription	Psoas Muscle	Psoas
3	chr2:64034600-64046400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:64038600-64042200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:64041200-64041600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:64041200-64042000	Enhancers	NHDF-Ad	bronchial
7	chr2:64041200-64042000	Enhancers	NHEK	skin
8	chr2:64041200-64044400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:64041400-64041800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:64041400-64041800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:64041400-64041800	Enhancers	Osteobl	bone
12	chr2:64041400-64042000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:64041400-64042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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