Variant report

Variant	rs10507832
Chromosome Location	chr13:76225809-76225810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1006408	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11616974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1323692	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1570542	0.92[ASN][1000 genomes]
rs1951832	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4885336	0.99[ASN][1000 genomes]
rs55825533	0.85[ASN][1000 genomes]
rs68028935	0.80[ASN][1000 genomes]
rs735822	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7995740	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996197	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9285297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9318364	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9593109	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600511	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9600517	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs10507832	RP11-173B14.5	cis	Artery Tibial	GTEx
rs10507832	RP11-173B14.5	cis	lung	GTEx
rs10507832	RP11-173B14.5	cis	Skin Sun Exposed Lower leg	GTEx
rs10507832	RP11-173B14.5	cis	Artery Aorta	GTEx
rs10507832	RP11-173B14.5	cis	Nerve 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	chr13:76212200-76235600	Weak transcription	Aorta	Aorta
7	chr13:76212400-76230000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:76212400-76240400	Weak transcription	HMEC	breast
9	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
10	chr13:76213800-76235600	Weak transcription	Psoas Muscle	Psoas
11	chr13:76215400-76258200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:76216200-76229400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:76222000-76226400	Weak transcription	Fetal Brain Male	brain
14	chr13:76222000-76226400	Strong transcription	HSMM	muscle
15	chr13:76222000-76230000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:76223000-76233200	Weak transcription	Primary B cells from cord blood	blood
17	chr13:76223200-76230800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr13:76223200-76236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:76223400-76226000	Weak transcription	GM12878-XiMat	blood
20	chr13:76223400-76226400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:76223400-76227000	Weak transcription	NH-A	brain
22	chr13:76223400-76230800	Weak transcription	HSMMtube	muscle
23	chr13:76223600-76227200	Enhancers	NHDF-Ad	bronchial
24	chr13:76223600-76228400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:76223800-76230200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:76224600-76232400	Genic enhancers	Osteobl	bone
27	chr13:76224800-76226400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr13:76225000-76227200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:76225600-76226000	Genic enhancers	NHLF	lung
30	chr13:76225600-76227800	Genic enhancers	Muscle Satellite Cultured Cells	--
31	chr13:76225800-76226600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:76225800-76228600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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