Variant report

Variant	rs12643730
Chromosome Location	chr4:101007746-101007747
allele	A/G
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:15)

rs_ID	r²[population]
rs10014424	1.00[CEU][hapmap]
rs11097690	1.00[EUR][1000 genomes]
rs12641552	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17029641	1.00[CEU][hapmap]
rs17029681	0.85[AMR][1000 genomes]
rs17029696	1.00[CEU][hapmap]
rs17029717	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2298734	1.00[CEU][hapmap]
rs28561548	1.00[CEU][hapmap]
rs28893880	1.00[CEU][hapmap]
rs4463078	1.00[CEU][hapmap]
rs59439986	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59768994	0.81[AMR][1000 genomes]
rs60203069	0.85[AMR][1000 genomes]
rs61229555	0.85[AMR][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:13 , 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	chr4:101006600-101008200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:101006600-101009800	Enhancers	Placenta	Placenta
8	chr4:101006800-101009000	Weak transcription	Right Atrium	heart
9	chr4:101007400-101008000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr4:101007400-101008600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:101007600-101007800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:101007600-101007800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:101007600-101008600	Enhancers	Esophagus	oesophagus

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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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