Variant report

Variant	rs73286255
Chromosome Location	chr12:44394175-44394176
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11836308	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2699993	0.80[AMR][1000 genomes]
rs4323934	1.00[ASN][1000 genomes]
rs4474500	1.00[EUR][1000 genomes]
rs55996795	0.82[ASN][1000 genomes]
rs56737736	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57065008	1.00[ASN][1000 genomes]
rs57781916	1.00[ASN][1000 genomes]
rs58703100	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs60979741	0.84[AFR][1000 genomes]
rs61285473	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7298388	1.00[ASN][1000 genomes]
rs73085755	1.00[ASN][1000 genomes]
rs73286225	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286232	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73286235	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73286249	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73286259	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs74084785	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44361400-44401400	Weak transcription	Aorta	Aorta
2	chr12:44383200-44402400	Weak transcription	HSMMtube	muscle
3	chr12:44384400-44399600	Weak transcription	Fetal Intestine Small	intestine
4	chr12:44386800-44394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:44387400-44399200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:44387600-44399400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:44390000-44394400	Weak transcription	HepG2	liver
8	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
9	chr12:44393800-44394200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:44394000-44394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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