Variant report

Variant	rs2497733
Chromosome Location	chr10:116316780-116316781
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11196778	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12413487	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333688	0.87[AMR][1000 genomes]
rs2483534	0.87[AMR][1000 genomes]
rs2483535	0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2483536	0.87[AMR][1000 genomes]
rs2483537	0.87[AMR][1000 genomes]
rs2483538	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2483539	0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2483540	0.87[AMR][1000 genomes]
rs2483541	0.82[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2483542	0.87[AMR][1000 genomes]
rs2483543	0.85[AMR][1000 genomes]
rs2483544	0.82[CHB][hapmap];0.87[AMR][1000 genomes]
rs2483545	0.87[AMR][1000 genomes]
rs2483546	0.81[CHB][hapmap];0.87[AMR][1000 genomes]
rs2483548	0.82[CHB][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2483549	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483550	0.87[AMR][1000 genomes]
rs2483552	0.82[CHB][hapmap];0.82[MEX][hapmap];0.87[AMR][1000 genomes]
rs2483553	0.82[CHB][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2483554	0.87[AMR][1000 genomes]
rs2483555	0.87[AMR][1000 genomes]
rs2483556	0.87[AMR][1000 genomes]
rs2483557	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2483558	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2483559	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2483560	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483563	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483568	0.93[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs2483578	0.81[CEU][hapmap];0.96[GIH][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs2483581	0.81[EUR][1000 genomes]
rs2483583	0.93[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs2483590	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2497663	0.93[CEU][hapmap];0.93[GIH][hapmap];0.81[MEX][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs2497725	0.87[AMR][1000 genomes]
rs2497726	0.85[AMR][1000 genomes]
rs2497727	0.87[AMR][1000 genomes]
rs2497728	0.87[AMR][1000 genomes]
rs2497729	0.87[AMR][1000 genomes]
rs2497730	0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2497731	0.87[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2497732	0.87[AMR][1000 genomes]
rs2497735	0.84[CHB][hapmap];0.86[AMR][1000 genomes]
rs2497736	0.87[AMR][1000 genomes]
rs2497737	0.87[AMR][1000 genomes]
rs2497738	0.87[AMR][1000 genomes]
rs2497739	0.87[AMR][1000 genomes]
rs2497740	0.82[CHB][hapmap];0.85[TSI][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2497741	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2497742	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2497743	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497744	0.85[AMR][1000 genomes]
rs2497747	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2497748	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2497749	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4128920	0.93[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4998667	0.81[CEU][hapmap];0.96[GIH][hapmap];0.90[TSI][hapmap];0.83[EUR][1000 genomes]
rs58938015	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60588618	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7085345	0.84[AMR][1000 genomes]
rs7091986	0.87[AMR][1000 genomes]
rs72826986	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72826987	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72829115	0.82[EUR][1000 genomes]
rs7913199	0.88[ASW][hapmap];0.93[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.80[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7915116	0.87[AMR][1000 genomes]
rs7915452	0.85[AMR][1000 genomes]
rs9325544	0.84[AMR][1000 genomes]
rs9421186	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9421190	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs985273	0.93[CEU][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.98[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
rs2497733	ABLIM1	cis	multi-tissue	Pritchard

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116305000-116317600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:116305200-116318200	Weak transcription	Fetal Intestine Large	intestine
3	chr10:116307800-116317600	Weak transcription	Fetal Intestine Small	intestine
4	chr10:116310800-116317400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr10:116311000-116317400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:116311000-116331400	Weak transcription	Fetal Brain Male	brain
7	chr10:116311600-116336600	Weak transcription	Colonic Mucosa	Colon
8	chr10:116311800-116317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:116312000-116316800	Weak transcription	Lung	lung
10	chr10:116312000-116317200	Enhancers	Fetal Heart	heart
11	chr10:116312000-116324800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr10:116312000-116331000	Weak transcription	Ovary	ovary
13	chr10:116312000-116334600	Weak transcription	Esophagus	oesophagus
14	chr10:116312000-116335000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr10:116312000-116335200	Weak transcription	Pancreas	Pancrea
16	chr10:116312200-116317600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:116312200-116330800	Weak transcription	Adipose Nuclei	Adipose
18	chr10:116312400-116316800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:116312400-116316800	Weak transcription	HSMM	muscle
20	chr10:116312400-116331200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:116312800-116317400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:116313000-116317600	Weak transcription	Fetal Muscle Leg	muscle
23	chr10:116313000-116319200	Genic enhancers	Left Ventricle	heart
24	chr10:116314200-116316800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:116314600-116317000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:116314800-116322400	Weak transcription	Right Ventricle	heart
27	chr10:116315800-116317000	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr10:116315800-116317000	Enhancers	HepG2	liver
29	chr10:116316000-116316800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr10:116316000-116317000	Enhancers	HSMMtube	muscle
31	chr10:116316000-116317200	Enhancers	Liver	Liver
32	chr10:116316000-116317200	Enhancers	Psoas Muscle	Psoas
33	chr10:116316000-116317200	Enhancers	Right Atrium	heart
34	chr10:116316400-116318000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:116316600-116319600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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