Variant report

Variant	rs10029162
Chromosome Location	chr4:87430469-87430470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1038291	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11097114	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1187208	0.81[EUR][1000 genomes]
rs11933794	0.95[LWK][hapmap];0.85[YRI][hapmap]
rs13109115	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13111352	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2086541	0.80[EUR][1000 genomes]
rs2869441	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693770	1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.83[ASN][1000 genomes]
rs6531928	0.84[ASW][hapmap];1.00[YRI][hapmap]
rs7660964	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7661663	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10029162	DMP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87419600-87430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:87427800-87430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:87429000-87430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr4:87429200-87431000	Enhancers	Fetal Lung	lung
5	chr4:87429400-87430600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:87429400-87430600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:87429400-87430600	Flanking Active TSS	Osteobl	bone
8	chr4:87429600-87430600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:87429600-87430600	Enhancers	Small Intestine	intestine
10	chr4:87429800-87430600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:87429800-87430600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:87429800-87431400	Enhancers	Fetal Brain Female	brain
13	chr4:87430000-87430600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:87430000-87430600	Enhancers	Brain Hippocampus Middle	brain
15	chr4:87430000-87430600	Active TSS	Ovary	ovary
16	chr4:87430000-87430800	Enhancers	A549	lung
17	chr4:87430000-87430800	Enhancers	NHDF-Ad	bronchial
18	chr4:87430000-87434600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:87430200-87430600	Enhancers	Colon Smooth Muscle	Colon
20	chr4:87430200-87430600	Enhancers	NHLF	lung
21	chr4:87430200-87430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:87430400-87430600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:87430400-87430600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:87430400-87430800	Active TSS	Pancreatic Islets	Pancreatic Islet

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