Variant report

Variant	rs11924457
Chromosome Location	chr3:140027200-140027201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11917245	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11918688	1.00[EUR][1000 genomes]
rs11927090	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1383020	1.00[EUR][1000 genomes]
rs16850133	0.87[CHD][hapmap];0.85[LWK][hapmap];1.00[EUR][1000 genomes]
rs2061927	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061928	0.82[ASW][hapmap];0.88[GIH][hapmap];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2086330	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34648747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4076964	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs4077501	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap]
rs4142786	1.00[EUR][1000 genomes]
rs4234485	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4263252	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4365587	1.00[EUR][1000 genomes]
rs4438621	1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4518083	1.00[EUR][1000 genomes]
rs4583599	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs56834107	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57193140	1.00[EUR][1000 genomes]
rs57446026	0.81[ASN][1000 genomes]
rs57563861	1.00[EUR][1000 genomes]
rs57865055	1.00[EUR][1000 genomes]
rs58140595	1.00[EUR][1000 genomes]
rs59385932	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61015005	1.00[EUR][1000 genomes]
rs62267960	0.81[ASN][1000 genomes]
rs6414345	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.81[ASN][1000 genomes]
rs6439912	0.85[CHD][hapmap]
rs6439914	1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6765022	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs6765087	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6773144	0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72990191	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72990200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73867103	1.00[EUR][1000 genomes]
rs73867105	1.00[EUR][1000 genomes]
rs73867110	1.00[EUR][1000 genomes]
rs73870712	1.00[EUR][1000 genomes]
rs73870714	1.00[EUR][1000 genomes]
rs73870715	1.00[EUR][1000 genomes]
rs7610342	0.86[EUR][1000 genomes]
rs7626587	1.00[CHB][hapmap];0.85[CHD][hapmap];0.87[ASN][1000 genomes]
rs7626588	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7635923	0.81[ASN][1000 genomes]
rs7638929	0.87[CHD][hapmap];1.00[EUR][1000 genomes]
rs967861	0.85[CHD][hapmap];0.82[ASN][1000 genomes]
rs9811609	0.88[ASN][1000 genomes]
rs9816964	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[ASN][1000 genomes]
rs995578	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432486	chr3:139924092-140049121	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv829740	chr3:139925767-140106169	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv460867	chr3:140007294-140180563	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv591861	chr3:140007294-140180563	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv818169	chr3:140014763-140182046	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1001430	chr3:140016999-140186498	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv998953	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv536731	chr3:140017168-140186984	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv4037	chr3:140020508-140032666	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv829741	chr3:140021063-140183294	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11924457	TRIM43B	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140018800-140034200	Weak transcription	Fetal Brain Male	brain
2	chr3:140021800-140028800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:140026400-140027400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:140026800-140027200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr3:140026800-140029400	Enhancers	Ovary	ovary
6	chr3:140027000-140027600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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