Variant report

Variant	rs2052678
Chromosome Location	chr12:29833329-29833330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10843487	0.95[CHB][hapmap];0.82[JPT][hapmap];0.96[TSI][hapmap]
rs10843489	0.82[CHB][hapmap]
rs11050349	0.95[CHB][hapmap];0.90[CHD][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap]
rs11050362	0.95[CHB][hapmap]
rs11050366	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs11050368	0.95[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050369	0.95[CHB][hapmap];0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs11050372	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs11050377	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs12228621	0.81[ASN][1000 genomes]
rs12229631	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs12230192	0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap]
rs12230211	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs1549406	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs16934747	0.80[ASN][1000 genomes]
rs1863223	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2113877	0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap]
rs2113878	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2162031	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2219763	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2219764	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2350662	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2350663	0.95[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap]
rs2882465	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs2882466	0.95[CHB][hapmap];0.82[JPT][hapmap]
rs41321044	0.90[CHB][hapmap]
rs56669383	0.81[ASN][1000 genomes]
rs7299952	0.95[CHB][hapmap]
rs73271760	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:29822400-29840200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
7	chr12:29829800-29835200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:29829800-29841400	Weak transcription	Right Atrium	heart
9	chr12:29829800-29842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:29830000-29835200	Weak transcription	Hela-S3	cervix
11	chr12:29830000-29837600	Weak transcription	HSMMtube	muscle
12	chr12:29830000-29842800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:29830000-29844000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:29830200-29834800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:29830200-29857400	Weak transcription	HSMM	muscle
18	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:29830800-29841400	Weak transcription	Left Ventricle	heart
21	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:29831600-29840600	Weak transcription	Psoas Muscle	Psoas

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