Variant report

Variant	rs12502279
Chromosome Location	chr4:101007189-101007190
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12505112	0.87[ASN][1000 genomes]
rs12506869	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12640004	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642221	0.87[ASN][1000 genomes]
rs12649533	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12650258	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4235443	0.87[ASN][1000 genomes]
rs4532240	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55666457	0.86[ASN][1000 genomes]
rs55728175	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55907205	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55915722	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56186276	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62306138	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62306147	0.86[ASN][1000 genomes]
rs6823618	0.86[ASN][1000 genomes]
rs6855061	0.90[JPT][hapmap]
rs7675143	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[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	nsv427689	chr4:100931741-101216531	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv830018	chr4:100977238-101027920	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	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	chr4:100997000-101009000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:101002800-101008000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:101003200-101007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:101003200-101008000	Weak transcription	NHEK	skin
5	chr4:101006200-101008600	Weak transcription	Ovary	ovary
6	chr4:101006600-101007400	Weak transcription	Fetal Intestine Large	intestine
7	chr4:101006600-101008200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:101006600-101009800	Enhancers	Placenta	Placenta
9	chr4:101006800-101007200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:101006800-101009000	Weak transcription	Right Atrium	heart
11	chr4:101007000-101007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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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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