Variant report

Variant	rs6819137
Chromosome Location	chr4:175592077-175592078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12505229	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12506042	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12506873	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12508745	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12641804	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12642464	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12647358	0.82[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12648678	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13147308	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2171139	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4530610	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs71611791	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71611792	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9684503	0.83[AMR][1000 genomes];0.84[EUR][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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1018390	chr4:175475505-175969742	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv880584	chr4:175505749-175644689	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:175585000-175593200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:175590200-175595000	Weak transcription	Fetal Intestine Small	intestine
3	chr4:175590600-175593200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:175591000-175593000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:175591000-175593200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:175591000-175593400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:175591000-175593600	Weak transcription	HMEC	breast
8	chr4:175591000-175595400	Weak transcription	Hela-S3	cervix
9	chr4:175591200-175593000	Weak transcription	K562	blood
10	chr4:175591800-175593200	Weak transcription	A549	lung
11	chr4:175591800-175595200	Weak transcription	Fetal Intestine Large	intestine

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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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