Variant report

Variant	rs12443333
Chromosome Location	chr15:59862526-59862527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12902469	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28405302	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28490567	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35634961	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775178	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4775187	0.88[CHB][hapmap];0.80[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4775188	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58735029	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6494119	0.83[EUR][1000 genomes]
rs7176947	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59858600-59862600	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr15:59859000-59863000	Enhancers	Stomach Mucosa	stomach
3	chr15:59859800-59863000	Enhancers	Fetal Intestine Large	intestine
4	chr15:59859800-59863800	Enhancers	Fetal Intestine Small	intestine
5	chr15:59861000-59862800	Bivalent Enhancer	HepG2	liver
6	chr15:59861200-59862600	Enhancers	Duodenum Mucosa	Duodenum
7	chr15:59861600-59862800	Enhancers	Gastric	stomach
8	chr15:59861600-59862800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr15:59862000-59863000	Weak transcription	Placenta	Placenta
10	chr15:59862200-59862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:59862200-59862800	Flanking Active TSS	A549	lung
12	chr15:59862200-59863200	Enhancers	HMEC	breast
13	chr15:59862400-59862600	Enhancers	Small Intestine	intestine
14	chr15:59862400-59862800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:59862400-59862800	Enhancers	Esophagus	oesophagus
16	chr15:59862400-59862800	Flanking Active TSS	Hela-S3	cervix
17	chr15:59862400-59863000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:59862400-59863400	Enhancers	NHEK	skin

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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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