Variant report

Variant	rs11942185
Chromosome Location	chr4:144218339-144218340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11941277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11941986	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs182467	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28397211	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs300948	0.90[EUR][1000 genomes]
rs300954	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300955	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34420992	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs522027	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs535824	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs536660	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144216000-144219000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:144216000-144222800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:144216000-144223000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:144216600-144220400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:144216800-144223400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:144216800-144223400	Weak transcription	Fetal Lung	lung
7	chr4:144216800-144223600	Weak transcription	Fetal Stomach	stomach
8	chr4:144216800-144223800	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:144217400-144219000	Enhancers	HMEC	breast
10	chr4:144217400-144219000	Enhancers	NHEK	skin
11	chr4:144217400-144219200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:144217600-144219600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:144217800-144219200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:144217800-144219400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:144218200-144218600	Enhancers	Rectal Smooth Muscle	rectum

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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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