Variant report

Variant	rs12591497
Chromosome Location	chr15:74809226-74809227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74802902..74806494-chr15:74809022..74812313,5	K562	blood:
2	chr15:74673800..74676322-chr15:74808073..74810964,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12593898	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12594105	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12594316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes]
rs12594462	1.00[CEU][hapmap]
rs12594486	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12594826	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16953854	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16969096	1.00[AFR][1000 genomes]
rs16969770	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3184088	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs3747478	1.00[CEU][hapmap]
rs4077831	1.00[ASW][hapmap]
rs56679513	0.86[ASN][1000 genomes]
rs57386020	0.86[ASN][1000 genomes]
rs58723548	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58747223	0.82[AMR][1000 genomes]
rs59390045	0.86[ASN][1000 genomes]
rs59457315	0.86[ASN][1000 genomes]
rs59789565	0.86[ASN][1000 genomes]
rs59976160	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60419116	0.81[AMR][1000 genomes]
rs60546922	0.86[ASN][1000 genomes]
rs61153292	0.81[AMR][1000 genomes]
rs7180069	1.00[YRI][hapmap]
rs8023274	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs8031284	1.00[CEU][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1044797	chr15:74773661-74819852	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12591497	ARID3B	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74774000-74815200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74782400-74811400	Weak transcription	Stomach Mucosa	stomach
3	chr15:74798600-74815600	Weak transcription	Thymus	Thymus
4	chr15:74799000-74809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:74799000-74811400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr15:74803400-74811800	Weak transcription	HSMM	muscle
7	chr15:74804800-74809600	Weak transcription	Spleen	Spleen
8	chr15:74804800-74821000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:74806600-74813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:74808000-74810800	Weak transcription	Fetal Brain Male	brain
11	chr15:74809000-74809600	Enhancers	Fetal Heart	heart
12	chr15:74809200-74810200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:74809200-74810200	Enhancers	Hela-S3	cervix
14	chr15:74809200-74810200	Enhancers	HMEC	breast
15	chr15:74809200-74810200	Enhancers	NHEK	skin
16	chr15:74809200-74810400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links