Variant report

Variant	rs12636936
Chromosome Location	chr3:138201821-138201822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10935282	0.82[JPT][hapmap]
rs11709290	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11916525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12054428	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12490633	0.82[JPT][hapmap]
rs12630060	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12630144	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12630351	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12631438	0.81[JPT][hapmap]
rs12632793	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632794	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12635354	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12635490	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12635904	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12637638	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12637679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13059817	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13062423	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13067095	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13067864	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13069355	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13072751	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13073978	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13077766	0.82[EUR][1000 genomes]
rs13084780	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13093668	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13095122	0.87[EUR][1000 genomes]
rs13095125	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13098554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1546758	1.00[CEU][hapmap]
rs1563615	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1672927	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1672928	0.81[CHB][hapmap];0.90[CHD][hapmap]
rs1672932	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1673608	0.82[JPT][hapmap]
rs1673622	0.82[JPT][hapmap]
rs1679181	0.81[JPT][hapmap]
rs1720829	0.80[JPT][hapmap]
rs2085446	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2085447	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2280596	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305269	0.95[CHB][hapmap];0.90[CHD][hapmap]
rs34011134	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34153951	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34284415	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34316974	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34377792	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34416776	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34482601	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34583117	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34607531	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34640717	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34652182	0.87[EUR][1000 genomes]
rs34878008	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35034861	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35269190	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35270255	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35340237	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35489558	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35537868	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35549884	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35597846	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35834585	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35876758	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35906980	0.87[EUR][1000 genomes]
rs3773748	0.95[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs3813264	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs3884240	0.82[JPT][hapmap]
rs3884241	0.82[JPT][hapmap]
rs497334	0.82[JPT][hapmap]
rs503922	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs529615	0.82[JPT][hapmap]
rs56028542	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56654955	0.87[EUR][1000 genomes]
rs57516770	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58873565	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59184769	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59371015	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60371967	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60426689	0.96[EUR][1000 genomes]
rs609797	0.82[JPT][hapmap]
rs61258082	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61662147	0.82[EUR][1000 genomes]
rs6439809	0.82[JPT][hapmap]
rs6439810	0.82[JPT][hapmap]
rs66775405	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67390774	0.82[EUR][1000 genomes]
rs67666216	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6768963	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs6784770	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7645920	0.82[JPT][hapmap]
rs773450	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs774012	0.82[JPT][hapmap]
rs811794	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs812277	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs814022	0.82[JPT][hapmap]
rs9049	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs936316	0.82[JPT][hapmap]
rs9848938	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9855306	0.82[JPT][hapmap]
rs9880928	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	38 gene(s)	inside rSNPs	diseases
3	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv522517	chr3:138174523-138297982	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12636936	CEP70	cis	lymphoblastoid	seeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138188000-138210800	Weak transcription	Lung	lung
2	chr3:138188000-138211600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:138190000-138210800	Weak transcription	Psoas Muscle	Psoas
4	chr3:138191800-138203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:138194000-138260200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:138196200-138205000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:138197200-138205000	Weak transcription	Brain Anterior Caudate	brain
8	chr3:138197600-138202800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:138197800-138203200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:138199400-138211600	Weak transcription	Fetal Heart	heart

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