Variant report

Variant	rs502171
Chromosome Location	chr13:76320114-76320115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1092601	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12184601	0.83[JPT][hapmap]
rs1323710	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1323712	0.91[EUR][1000 genomes]
rs1830760	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1924214	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2025354	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2328953	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2328954	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2328956	0.91[EUR][1000 genomes]
rs2761398	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34545980	0.90[EUR][1000 genomes]
rs4514560	0.82[JPT][hapmap]
rs479824	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs480929	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4885345	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs504273	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs508596	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs528783	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs530855	0.80[AFR][1000 genomes]
rs539514	0.82[AFR][1000 genomes]
rs560069	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs562940	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs585233	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs603274	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs607095	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs625755	0.82[AFR][1000 genomes]
rs626182	0.97[EUR][1000 genomes]
rs634729	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636505	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs636580	0.88[EUR][1000 genomes]
rs689418	0.81[ASN][1000 genomes]
rs7320216	0.89[CEU][hapmap]
rs7324353	0.83[ASN][1000 genomes]
rs7331527	0.94[CHB][hapmap];0.88[JPT][hapmap]
rs776527	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7991448	0.89[CEU][hapmap]
rs9530463	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9544034	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9544035	0.91[EUR][1000 genomes]
rs9573647	0.83[EUR][1000 genomes]
rs9805323	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1091	chr13:76282392-76327906	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76294800-76321800	Weak transcription	NH-A	brain
2	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
3	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
4	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:76313600-76324800	Weak transcription	Psoas Muscle	Psoas
6	chr13:76313800-76323600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:76314000-76323600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:76314000-76323800	Weak transcription	Fetal Heart	heart
9	chr13:76314200-76323200	Weak transcription	NHLF	lung
10	chr13:76314600-76321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:76314600-76321800	Weak transcription	HSMMtube	muscle
12	chr13:76316600-76322600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:76318200-76320400	Strong transcription	HSMM	muscle
14	chr13:76318600-76321400	Weak transcription	NHDF-Ad	bronchial
15	chr13:76319000-76320600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:76319000-76323600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr13:76319000-76323600	Weak transcription	NHEK	skin
18	chr13:76319200-76321400	Weak transcription	Osteobl	bone
19	chr13:76319200-76323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:76319400-76321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:76319400-76321400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:76319400-76321600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr13:76320000-76320800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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