Variant report

Variant	rs1913186
Chromosome Location	chr3:145885467-145885468
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr3:145882861-145885527	Hela-S3	cervix:	n/a	chr3:145884293-145884304 chr3:145885330-145885341 chr3:145885330-145885341 chr3:145885328-145885341
2	STAT1	chr3:145884357-145885489	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:145832179..145836696-chr3:145881447..145885871,6	MCF-7	breast:
2	chr3:145884303..145885954-chr3:145902265..145904653,2	MCF-7	breast:

Variant related genes	Relation type
PLOD2	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10935601	0.82[JPT][hapmap]
rs10935604	0.82[JPT][hapmap]
rs10935605	0.80[ASN][1000 genomes]
rs10935606	0.84[GIH][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs1170389	1.00[JPT][hapmap]
rs1170391	0.94[JPT][hapmap]
rs1170393	0.94[JPT][hapmap]
rs11718741	0.94[JPT][hapmap]
rs13088646	1.00[CEU][hapmap];0.84[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1398525	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16857897	0.82[JPT][hapmap]
rs1707469	0.86[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap]
rs17413767	0.80[ASN][1000 genomes]
rs17414130	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1868541	0.82[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs2137485	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2203213	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34800183	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3804663	0.82[JPT][hapmap]
rs3914253	0.86[AFR][1000 genomes]
rs4342076	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4681301	0.94[JPT][hapmap]
rs56842856	0.82[ASN][1000 genomes]
rs61154334	0.80[ASN][1000 genomes]
rs6766101	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6781300	0.82[JPT][hapmap]
rs6793582	0.91[AFR][1000 genomes]
rs73148985	0.80[ASN][1000 genomes]
rs73148986	0.80[ASN][1000 genomes]
rs7623263	1.00[CEU][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7628805	0.82[JPT][hapmap]

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	nsv877613	chr3:145833232-145912055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1011146	chr3:145859022-145911429	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1012485	chr3:145861750-145947125	Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv536758	chr3:145861750-145947125	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1913186	CPA3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145880000-145885600	Enhancers	Fetal Intestine Small	intestine
2	chr3:145880200-145885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:145880800-145914400	Weak transcription	Left Ventricle	heart
4	chr3:145882000-145885600	Enhancers	HUVEC	blood vessel
5	chr3:145883000-145913000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:145883800-145890000	Weak transcription	Fetal Heart	heart
7	chr3:145884000-145886200	Enhancers	Osteobl	bone
8	chr3:145884000-145903400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:145884400-145885600	Enhancers	Ovary	ovary
10	chr3:145884800-145885600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:145884800-145885800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:145884800-145910800	Weak transcription	Liver	Liver
13	chr3:145885000-145885800	Weak transcription	Pancreas	Pancrea
14	chr3:145885000-145886000	Enhancers	Hela-S3	cervix
15	chr3:145885000-145887800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:145885000-145908000	Weak transcription	Aorta	Aorta
17	chr3:145885200-145885600	Enhancers	Fetal Kidney	kidney
18	chr3:145885400-145886400	Enhancers	A549	lung
19	chr3:145885400-145895400	Weak transcription	HSMM	muscle

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