Variant report

Variant	rs4938014
Chromosome Location	chr11:113264521-113264522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1003641	0.89[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs1055076	0.81[CEU][hapmap];0.86[CHB][hapmap];0.85[GIH][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.85[TSI][hapmap];0.90[ASN][1000 genomes]
rs10891541	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10891542	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10891545	0.91[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10891546	0.83[CHB][hapmap];0.91[CHD][hapmap];0.87[YRI][hapmap]
rs11214592	0.81[ASN][1000 genomes]
rs11214597	0.82[JPT][hapmap]
rs11214598	0.91[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs11214602	0.83[ASN][1000 genomes]
rs1124492	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1124493	0.88[CHD][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs12224538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12285457	0.90[ASN][1000 genomes]
rs17115439	0.83[CHB][hapmap];0.91[CHD][hapmap];0.87[YRI][hapmap]
rs17115583	0.87[GIH][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1800497	0.80[CHD][hapmap]
rs2242592	0.82[ASN][1000 genomes]
rs2276070	0.95[JPT][hapmap]
rs2587550	0.88[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs2587552	0.84[ASN][1000 genomes]
rs2734841	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs2734842	0.82[ASN][1000 genomes]
rs2859543	0.84[ASN][1000 genomes]
rs2859544	0.84[ASN][1000 genomes]
rs2859545	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs28712705	0.94[ASN][1000 genomes]
rs4436578	0.81[JPT][hapmap]
rs4590907	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4620755	0.87[GIH][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs4938010	0.90[ASN][1000 genomes]
rs4938011	0.90[ASN][1000 genomes]
rs4938012	0.83[CHB][hapmap]
rs4938013	0.83[CHB][hapmap];0.91[CHD][hapmap]
rs4938015	0.83[CHB][hapmap];0.91[CHD][hapmap];0.87[YRI][hapmap]
rs4938016	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs61492892	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6275	0.89[CHD][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs6276	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs6278	0.80[CHD][hapmap]
rs6279	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs7109196	0.82[JPT][hapmap]
rs7118900	0.83[CHD][hapmap]
rs7122228	0.86[ASN][1000 genomes]
rs7123797	0.83[CHB][hapmap]
rs713233	0.81[CEU][hapmap];0.91[JPT][hapmap]
rs719803	0.95[JPT][hapmap];0.84[MEX][hapmap]
rs73557236	0.84[ASN][1000 genomes]
rs7945132	0.83[CHB][hapmap]
rs7949242	0.84[ASN][1000 genomes]
rs877138	0.82[CHD][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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1040152	chr11:113258065-113285916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4938014	TTC12	Cis_1M	lymphoblastoid	RTeQTL
rs4938014	TIMM8B	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113258000-113272200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:113258800-113287400	Weak transcription	Gastric	stomach
3	chr11:113259200-113276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:113259400-113268600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:113259400-113272000	Weak transcription	HMEC	breast
6	chr11:113262400-113268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:113263600-113266400	Weak transcription	Adipose Nuclei	Adipose
8	chr11:113264000-113271400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:113264400-113268400	Weak transcription	Esophagus	oesophagus

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