Variant report

Variant	rs479824
Chromosome Location	chr13:76308360-76308361
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1092601	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1323710	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1323712	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1408060	0.80[EUR][1000 genomes]
rs1830760	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1924214	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2025354	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2328953	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2328954	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2328956	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2761398	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34545980	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs480929	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4885345	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs502171	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs504273	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs508596	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs528783	0.95[EUR][1000 genomes]
rs560069	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs562940	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs585233	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs603274	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs607095	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61958148	0.84[ASN][1000 genomes]
rs626182	0.91[EUR][1000 genomes]
rs634729	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs636580	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7324353	0.88[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7331527	0.84[ASN][1000 genomes]
rs776527	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7999158	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9530463	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9544034	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9544035	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9565195	0.83[EUR][1000 genomes]
rs9573647	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76294800-76321800	Weak transcription	NH-A	brain
2	chr13:76298600-76309200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:76298600-76313000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:76298600-76318800	Weak transcription	Gastric	stomach
5	chr13:76299600-76310400	Weak transcription	NHLF	lung
6	chr13:76299800-76313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr13:76300200-76309200	Weak transcription	NHDF-Ad	bronchial
8	chr13:76300200-76313000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:76301200-76310400	Weak transcription	HSMMtube	muscle
10	chr13:76301400-76310800	Weak transcription	Fetal Kidney	kidney
11	chr13:76304600-76310800	Weak transcription	Fetal Intestine Large	intestine
12	chr13:76306200-76330600	Weak transcription	Thymus	Thymus
13	chr13:76306400-76310200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:76307200-76318200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:76307600-76308400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr13:76307600-76308400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
17	chr13:76307600-76308400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr13:76307600-76310200	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr13:76307800-76308400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:76307800-76308600	Genic enhancers	Osteobl	bone
21	chr13:76307800-76308800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:76307800-76312400	Strong transcription	HSMM	muscle
23	chr13:76308000-76308400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:76308000-76308400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:76308000-76308400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr13:76308000-76308400	ZNF genes & repeats	Dnd41	blood
27	chr13:76308000-76308600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:76308200-76309000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr13:76308200-76310200	Weak transcription	HepG2	liver
30	chr13:76308200-76314800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:76308200-76324800	Weak transcription	Left Ventricle	heart
32	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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