Variant report

Variant	rs1323712
Chromosome Location	chr13:76300085-76300086
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1092601	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1323710	0.83[EUR][1000 genomes]
rs1408060	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1535730	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1830760	0.88[EUR][1000 genomes]
rs1924214	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2025354	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2328953	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2328954	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2328956	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2761398	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34545980	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs479824	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs480929	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4885345	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs502171	0.91[EUR][1000 genomes]
rs504273	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs508596	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs528783	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs560069	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs562940	0.83[EUR][1000 genomes]
rs585233	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs603274	0.81[EUR][1000 genomes]
rs607095	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs626182	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs634729	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs636505	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs636580	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7320216	0.84[AFR][1000 genomes]
rs7320602	0.84[AFR][1000 genomes]
rs7336908	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs776527	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7983875	0.84[AFR][1000 genomes]
rs7986141	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8002635	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9530463	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9530466	0.84[AFR][1000 genomes]
rs9544028	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9544029	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9544034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9544035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9565195	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9573627	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9573636	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9573647	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[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	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	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	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
4	nsv976261	chr13:76297598-76301199	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76279400-76308000	Weak transcription	Left Ventricle	heart
2	chr13:76283600-76308000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:76294000-76300200	Weak transcription	HSMMtube	muscle
4	chr13:76294800-76321800	Weak transcription	NH-A	brain
5	chr13:76297000-76300800	Enhancers	Hela-S3	cervix
6	chr13:76297800-76300200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:76297800-76300200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr13:76297800-76300400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:76297800-76301400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:76297800-76301400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:76298000-76301400	Enhancers	Stomach Mucosa	stomach
12	chr13:76298200-76300600	Enhancers	A549	lung
13	chr13:76298200-76301000	Enhancers	HUVEC	blood vessel
14	chr13:76298400-76301200	Enhancers	Fetal Lung	lung
15	chr13:76298600-76309200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr13:76298600-76313000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:76298600-76318800	Weak transcription	Gastric	stomach
18	chr13:76298800-76300400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:76299200-76301000	Enhancers	Fetal Heart	heart
20	chr13:76299200-76307800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr13:76299200-76308000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:76299400-76300400	Enhancers	HSMM	muscle
23	chr13:76299400-76307800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr13:76299600-76300200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:76299600-76300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:76299600-76300800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr13:76299600-76310400	Weak transcription	NHLF	lung
28	chr13:76299800-76300800	Weak transcription	Fetal Intestine Small	intestine
29	chr13:76299800-76313000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:76300000-76300200	Enhancers	Fetal Kidney	kidney
31	chr13:76300000-76300200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr13:76300000-76300200	Enhancers	NHDF-Ad	bronchial
33	chr13:76300000-76300800	Weak transcription	Osteobl	bone
34	chr13:76300000-76301400	Weak transcription	Fetal Intestine Large	intestine

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