Variant report

Variant	rs61939604
Chromosome Location	chr12:57291694-57291695
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	chr1:149214913..149215694-chr12:57291472..57291972,2	NB4	blood:
2	chr12:57290248..57293772-chr12:57294284..57296377,4	K562	blood:

Variant related genes	Relation type
ENSG00000252826	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10876941	0.81[EUR][1000 genomes]
rs10876943	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172033	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1846398	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909328	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2888106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2888108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4254104	0.80[EUR][1000 genomes]
rs4472974	0.82[EUR][1000 genomes]
rs4477473	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4759036	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4759041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55812315	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56023460	0.86[AFR][1000 genomes]
rs7955918	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956391	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959253	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7959654	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7959725	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7960137	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7960618	0.87[ASN][1000 genomes]
rs7961602	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7967940	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7972591	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7979655	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs840161	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9668259	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv3441185	chr12:57287885-57292183	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57288200-57293600	Enhancers	Liver	Liver
2	chr12:57289200-57291800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr12:57290200-57293600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:57290200-57293600	Weak transcription	Gastric	stomach
5	chr12:57290200-57293600	Weak transcription	Lung	lung
6	chr12:57290400-57293600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:57291000-57295600	Enhancers	HMEC	breast
8	chr12:57291200-57292800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:57291200-57295800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:57291600-57291800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:57291600-57293000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:57291600-57293000	Enhancers	NHEK	skin

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