Variant report

Variant	rs56977454
Chromosome Location	chr2:86204014-86204015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86203899..86206358-chr2:86207517..86209115,2	MCF-7	breast:
2	chr2:86203874..86206783-chr2:86210443..86213436,2	K562	blood:
3	chr2:86151028..86153839-chr2:86202583..86205571,2	K562	blood:
4	chr17:79646681..79649589-chr2:86203221..86205508,2	MCF-7	breast:
5	chr2:86203428..86205643-chr2:86215451..86219080,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10174095	0.81[ASN][1000 genomes]
rs1019591	0.88[ASN][1000 genomes]
rs1036554	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11899576	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12612513	0.88[ASN][1000 genomes]
rs12614260	0.88[ASN][1000 genomes]
rs12622009	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13384563	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13390702	0.95[ASN][1000 genomes]
rs1561328	0.90[ASN][1000 genomes]
rs17026854	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17584578	0.88[ASN][1000 genomes]
rs17618001	0.88[ASN][1000 genomes]
rs2012798	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2118521	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2164879	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241437	0.83[ASN][1000 genomes]
rs2278085	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278087	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2278088	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289237	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2303340	0.86[ASN][1000 genomes]
rs34522092	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731819	0.84[ASN][1000 genomes]
rs3770081	0.84[ASN][1000 genomes]
rs3770087	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770089	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3770090	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3810827	0.86[ASN][1000 genomes]
rs56104203	0.86[ASN][1000 genomes]
rs56326127	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57083584	0.88[ASN][1000 genomes]
rs57398459	0.88[ASN][1000 genomes]
rs58186343	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58365138	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58898686	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59835600	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60649958	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750765	0.85[ASN][1000 genomes]
rs73943920	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73943946	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73947314	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7608262	0.94[ASN][1000 genomes]
rs9789563	0.90[ASN][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	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86201800-86204200	Enhancers	Fetal Muscle Leg	muscle
2	chr2:86202200-86205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:86202200-86206400	Enhancers	Fetal Brain Male	brain
4	chr2:86202600-86204800	Weak transcription	Pancreas	Pancrea
5	chr2:86202800-86204200	Enhancers	Fetal Muscle Trunk	muscle
6	chr2:86203000-86204200	Enhancers	Fetal Brain Female	brain
7	chr2:86203800-86205400	Weak transcription	Esophagus	oesophagus
8	chr2:86203800-86205400	Weak transcription	Stomach Mucosa	stomach
9	chr2:86203800-86205600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:86203800-86205600	Weak transcription	Adipose Nuclei	Adipose
11	chr2:86203800-86205600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:86203800-86205600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:86203800-86205600	Weak transcription	Fetal Lung	lung
14	chr2:86203800-86205800	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:86203800-86206600	Weak transcription	Right Ventricle	heart
16	chr2:86204000-86204200	Enhancers	Psoas Muscle	Psoas
17	chr2:86204000-86204400	Weak transcription	Fetal Heart	heart
18	chr2:86204000-86205400	Weak transcription	Left Ventricle	heart
19	chr2:86204000-86205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:86204000-86205800	Weak transcription	Brain Germinal Matrix	brain
21	chr2:86204000-86205800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:86204000-86206600	Weak transcription	Lung	lung
23	chr2:86204000-86208800	Weak transcription	Gastric	stomach
24	chr2:86204000-86221000	Weak transcription	Right Atrium	heart

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