Variant report

Variant	rs12065844
Chromosome Location	chr1:62772200-62772201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10493320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11207957	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[CHD][hapmap];0.90[LWK][hapmap];0.85[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12058486	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12063531	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12078087	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12079207	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12082238	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12085325	0.93[ASN][1000 genomes]
rs12718429	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12724349	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12760226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12760895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2296518	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2477872	0.91[ASN][1000 genomes]
rs2666487	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2666488	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2765251	0.82[AMR][1000 genomes]
rs2765258	1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2765261	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs2765263	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs34196591	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34752481	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35875905	0.82[EUR][1000 genomes]
rs7520614	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs765691	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs765692	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs912894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs912895	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs912896	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv871893	chr1:62767953-62819067	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871250	chr1:62769887-62799451	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12065844	DAB1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:62762200-62773200	Weak transcription	Fetal Lung	lung
3	chr1:62767600-62780600	Weak transcription	HepG2	liver
4	chr1:62768000-62772600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:62768000-62773600	Weak transcription	Fetal Stomach	stomach
6	chr1:62768000-62776800	Weak transcription	Fetal Kidney	kidney
7	chr1:62769000-62772800	Weak transcription	Adipose Nuclei	Adipose
8	chr1:62770800-62773200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:62770800-62773200	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:62770800-62775600	Weak transcription	Gastric	stomach
11	chr1:62771000-62773200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:62772000-62772400	Weak transcription	Pancreas	Pancrea

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