Variant report

Variant	rs61567111
Chromosome Location	chr12:44209763-44209764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11182288	0.81[AMR][1000 genomes]
rs13377809	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55759317	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56322120	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61930676	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61933174	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61933176	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933177	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933180	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:44207600-44210200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:44208400-44210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:44208400-44223600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44208800-44210000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr12:44209200-44209800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:44209200-44209800	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:44209400-44209800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr12:44209400-44209800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr12:44209400-44210200	Enhancers	Fetal Intestine Small	intestine
11	chr12:44209600-44209800	Enhancers	Skeletal Muscle Female	skeletal muscle

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

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