Variant report

Variant	rs12673176
Chromosome Location	chr7:84700633-84700634
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10499882	1.00[YRI][hapmap]
rs12707697	0.80[AMR][1000 genomes]
rs2286184	0.88[MEX][hapmap]
rs6962019	0.95[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.87[LWK][hapmap];0.94[MEX][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.83[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	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1032610	chr7:84683282-84725413	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12673176	KIAA1324L	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84693000-84705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:84696000-84717600	Weak transcription	Fetal Stomach	stomach
3	chr7:84698400-84704800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:84699400-84701200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:84699400-84701400	Enhancers	Fetal Kidney	kidney
6	chr7:84699600-84701200	Enhancers	HMEC	breast
7	chr7:84699800-84700800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:84699800-84703000	Weak transcription	HUVEC	blood vessel
9	chr7:84700000-84700800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:84700000-84701000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:84700000-84701200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:84700000-84701400	Enhancers	NHEK	skin
13	chr7:84700000-84704400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:84700200-84700800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:84700200-84700800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:84700200-84701000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:84700600-84701000	Enhancers	Fetal Intestine Small	intestine
18	chr7:84700600-84701400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:84700600-84701800	Strong transcription	Fetal Lung	lung
20	chr7:84700600-84705000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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