Variant report

Variant	rs10880571
Chromosome Location	chr12:44207279-44207280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000198001	Chromatin interaction
ENSG00000139173	Chromatin interaction
ENSG00000151239	Chromatin interaction
ENSG00000129317	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10880569	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10880570	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11182273	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182275	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11182290	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17121283	0.97[ASN][1000 genomes]
rs1816854	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs3764004	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6582484	0.97[ASN][1000 genomes]
rs7966902	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7968199	0.89[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	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	esv3496520	chr12:44206947-44208779	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3496531	chr12:44206947-44208779	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44201000-44207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:44201400-44209400	Weak transcription	Fetal Intestine Small	intestine
3	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44206200-44207600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:44206600-44207600	Enhancers	NHEK	skin
6	chr12:44206600-44207800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:44206800-44207400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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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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