Variant report

Variant	rs17253766
Chromosome Location	chr13:94887411-94887412
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17253738	0.81[JPT][hapmap]
rs6492697	0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs72645994	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72645996	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs944840	0.84[ASN][1000 genomes]
rs9516370	0.90[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9524372	0.81[JPT][hapmap]
rs9524379	0.82[JPT][hapmap]
rs9524381	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9524384	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9524385	0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9524386	0.95[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948455	chr13:94451368-94988900	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916640	chr13:94521959-95101443	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533063	chr13:94560362-95101443	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv430599	chr13:94699399-94934930	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv933263	chr13:94711183-94897124	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv562754	chr13:94770794-94895346	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94867800-94888000	Weak transcription	Fetal Intestine Small	intestine
2	chr13:94886400-94888800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr13:94886400-94891000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:94886400-94891000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr13:94886400-94891000	Weak transcription	HMEC	breast
6	chr13:94886400-94891200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:94886600-94888600	Weak transcription	Osteobl	bone
8	chr13:94886600-94888800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:94886600-94889000	Weak transcription	NH-A	brain
10	chr13:94886600-94890800	Weak transcription	NHDF-Ad	bronchial
11	chr13:94886600-94891200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr13:94886600-94892000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr13:94886800-94888400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr13:94886800-94888600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:94887200-94888600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr13:94887200-94889000	Weak transcription	HSMM	muscle
17	chr13:94887200-94891000	Weak transcription	HSMMtube	muscle
18	chr13:94887200-94891400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:94887400-94888400	Enhancers	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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