Variant report

Variant	rs12430746
Chromosome Location	chr13:76219612-76219613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507833	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11617360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12427985	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12869054	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1323693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1575478	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1924176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1983818	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2281764	0.83[ASN][1000 genomes]
rs33991813	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34222504	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34512564	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34939695	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35915164	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61958092	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61958094	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9565180	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9573606	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9573608	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9593111	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9593112	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9593115	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9600515	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9600518	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9600521	0.85[AMR][1000 genomes];0.85[EUR][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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12430746	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76211400-76226200	Weak transcription	Left Ventricle	heart
2	chr13:76211600-76232800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr13:76211600-76235600	Weak transcription	Ovary	ovary
4	chr13:76211600-76235600	Weak transcription	Pancreas	Pancrea
5	chr13:76211800-76230000	Weak transcription	Thymus	Thymus
6	chr13:76212000-76223200	Weak transcription	Fetal Stomach	stomach
7	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
8	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:76212400-76240400	Weak transcription	HMEC	breast
10	chr13:76212600-76222800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:76212800-76224600	Weak transcription	Fetal Kidney	kidney
12	chr13:76213000-76221600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
14	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
15	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:76215600-76219800	Weak transcription	HSMMtube	muscle
17	chr13:76215600-76220000	Weak transcription	GM12878-XiMat	blood
18	chr13:76215600-76223600	Genic enhancers	Muscle Satellite Cultured Cells	--
19	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr13:76217000-76220000	Genic enhancers	NHDF-Ad	bronchial
21	chr13:76217200-76222000	Genic enhancers	HSMM	muscle
22	chr13:76217400-76223800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr13:76217600-76219800	Weak transcription	NHLF	lung
24	chr13:76218200-76219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:76218200-76219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:76218200-76219800	Genic enhancers	Osteobl	bone
27	chr13:76218600-76220000	Strong transcription	NH-A	brain
28	chr13:76218800-76219800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr13:76218800-76220000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:76218800-76221000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:76219000-76219800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:76219200-76220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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