Variant report

Variant	rs12357781
Chromosome Location	chr10:116343076-116343077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10159807	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10159811	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10159857	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10749167	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10749168	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10787533	0.91[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap]
rs10787534	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10787535	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10787538	0.88[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10885574	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10885576	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10885578	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10885579	0.81[CEU][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10885581	0.92[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10885582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10885583	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885585	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10885586	1.00[ASW][hapmap];0.85[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11196775	0.90[MEX][hapmap]
rs11196782	0.89[EUR][1000 genomes]
rs11196783	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11196784	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11196786	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11196790	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196793	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11196794	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11196796	0.96[CEU][hapmap];0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11196797	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12772307	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1333686	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1333690	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4752016	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7893570	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7923449	0.96[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12357781	ABLIM1	cis	multi-tissue	Pritchard

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116323400-116352000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:116323800-116352000	Weak transcription	Fetal Intestine Large	intestine
3	chr10:116333600-116345000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:116335400-116351600	Weak transcription	Fetal Intestine Small	intestine
5	chr10:116335600-116343400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:116335600-116344200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:116336800-116345400	Weak transcription	Psoas Muscle	Psoas
8	chr10:116336800-116359800	Weak transcription	Lung	lung
9	chr10:116336800-116360000	Weak transcription	Fetal Muscle Leg	muscle
10	chr10:116337000-116360200	Weak transcription	Esophagus	oesophagus
11	chr10:116337400-116352800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr10:116337600-116353000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:116337800-116350000	Weak transcription	Liver	Liver
14	chr10:116337800-116362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:116338000-116343400	Weak transcription	HSMMtube	muscle
16	chr10:116338000-116343600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr10:116338000-116343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr10:116338000-116345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:116338200-116345200	Weak transcription	Right Atrium	heart
20	chr10:116340400-116343800	Weak transcription	Left Ventricle	heart
21	chr10:116341400-116356800	Weak transcription	Brain Anterior Caudate	brain
22	chr10:116341800-116343200	Weak transcription	Fetal Heart	heart
23	chr10:116341800-116343800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr10:116341800-116345200	Weak transcription	Right Ventricle	heart
25	chr10:116342200-116343400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr10:116342200-116359800	Weak transcription	Adipose Nuclei	Adipose

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