Variant report

Variant	rs4612922
Chromosome Location	chr13:110654716-110654717
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110648675..110651623-chr13:110654497..110656407,2	K562	blood:
2	chr13:110653031..110654741-chr17:73849649..73852204,2	MCF-7	breast:
3	chr13:110436934..110441220-chr13:110649910..110655074,7	MCF-7	breast:
4	chr13:110654511..110656415-chr13:110759069..110761693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132471	Chromatin interaction
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11843976	0.84[CEU][hapmap]
rs1335809	0.81[AFR][1000 genomes]
rs58866924	0.80[ASN][1000 genomes]
rs6492235	0.81[AFR][1000 genomes]
rs7139390	0.80[ASN][1000 genomes]
rs7332343	0.81[AFR][1000 genomes]
rs7337597	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832719	chr13:110512259-110655883	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1049593	chr13:110615494-110725945	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1842097	chr13:110644990-110680944	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901004	chr13:110653666-110682916	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4612922	C13orf16	cis	parietal	SCAN
rs4612922	IRS2	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110649800-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:110649800-110655000	Enhancers	Hela-S3	cervix
3	chr13:110650400-110655000	Enhancers	HMEC	breast
4	chr13:110650800-110655400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:110651000-110654800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:110651400-110655000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:110651600-110658000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:110651800-110662800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:110652400-110654800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:110652600-110658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:110653000-110654800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:110653000-110654800	Enhancers	Osteobl	bone
13	chr13:110653000-110655400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:110653400-110654800	Enhancers	HSMM	muscle
15	chr13:110653600-110663000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:110654000-110664000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:110654400-110655000	Enhancers	A549	lung
18	chr13:110654400-110657800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:110654400-110657800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:110654600-110654800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr13:110654600-110655000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:110654600-110657400	Weak transcription	NHDF-Ad	bronchial
23	chr13:110654600-110658000	Weak transcription	NHEK	skin
24	chr13:110654600-110658200	Weak transcription	NH-A	brain

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