Variant report

Variant	rs4977482
Chromosome Location	chr9:18985299-18985300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1006120	0.81[CHD][hapmap]
rs10122088	0.83[JPT][hapmap]
rs10757020	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10757022	0.81[CHD][hapmap]
rs10811073	0.83[ASN][1000 genomes]
rs10811074	0.83[ASN][1000 genomes]
rs10811075	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs10811080	0.84[CHD][hapmap]
rs10811099	0.86[CHD][hapmap]
rs10963896	0.81[CHB][hapmap]
rs10963898	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs10963907	0.86[CHD][hapmap]
rs10963911	0.84[JPT][hapmap]
rs10963912	0.81[CHD][hapmap]
rs11496357	0.86[ASN][1000 genomes]
rs11790123	0.87[CHB][hapmap];0.86[CHD][hapmap];0.83[ASN][1000 genomes]
rs12349207	0.82[CHB][hapmap];0.89[JPT][hapmap];0.89[MEX][hapmap];0.83[ASN][1000 genomes]
rs12352756	0.86[CHB][hapmap]
rs12686643	0.80[ASN][1000 genomes]
rs1344007	0.81[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17236081	0.84[CHD][hapmap]
rs1932445	0.81[CHB][hapmap];0.93[CHD][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs1932447	0.82[ASN][1000 genomes]
rs1932448	0.91[CHB][hapmap];0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs1932449	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039010	0.81[CHD][hapmap]
rs2152464	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs3892045	0.86[CHD][hapmap]
rs4278231	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4419893	0.81[MEX][hapmap]
rs4977273	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs4977476	0.83[CHD][hapmap]
rs6475272	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs6475273	0.82[CHB][hapmap];0.80[CHD][hapmap]
rs6475276	0.81[CHD][hapmap];0.85[MEX][hapmap]
rs6475293	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475294	0.91[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6475295	0.82[CHB][hapmap];0.81[CHD][hapmap]
rs6475296	0.93[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6475297	0.93[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6475298	0.93[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6475299	0.80[ASN][1000 genomes]
rs6475301	0.87[ASN][1000 genomes]
rs6475303	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7019163	0.81[ASN][1000 genomes]
rs7024697	0.82[CHB][hapmap]
rs7025123	0.82[CHB][hapmap]
rs7030791	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs7034201	0.86[CHB][hapmap]
rs7036652	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7037837	0.80[ASN][1000 genomes]
rs7038730	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7848918	0.81[CHD][hapmap];0.85[MEX][hapmap]
rs7852907	0.82[CHB][hapmap]
rs7856117	0.82[CHB][hapmap];0.81[CHD][hapmap];0.81[MEX][hapmap]
rs7857590	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs7858618	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.84[ASN][1000 genomes]
rs7862694	0.86[CHD][hapmap]
rs7864376	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs7864665	0.80[ASN][1000 genomes]
rs7867428	0.81[ASN][1000 genomes]
rs7871030	0.81[ASN][1000 genomes]
rs7871205	0.81[ASN][1000 genomes]
rs7871505	0.81[ASN][1000 genomes]
rs7871732	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7875035	0.81[ASN][1000 genomes]
rs883439	0.86[CHD][hapmap]
rs953734	0.81[CHD][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv892699	chr9:18945868-19025693	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1022697	chr9:18951530-19010894	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4977482	ADFP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18982800-18985800	Weak transcription	Fetal Kidney	kidney
2	chr9:18983200-18985400	Weak transcription	NHDF-Ad	bronchial
3	chr9:18983200-18985600	Enhancers	Primary T cells from cord blood	blood
4	chr9:18984400-18985800	Enhancers	Stomach Mucosa	stomach
5	chr9:18984400-18987800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:18984800-18988200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:18985000-18985800	Enhancers	Fetal Thymus	thymus
8	chr9:18985200-18985600	Enhancers	Brain Anterior Caudate	brain
9	chr9:18985200-18985600	Weak transcription	Pancreas	Pancrea
10	chr9:18985200-18985800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:18985200-18985800	Enhancers	Fetal Heart	heart
12	chr9:18985200-18986000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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