Variant report

Variant	rs4052505
Chromosome Location	chr13:80512487-80512488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11838566	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11840618	0.86[EUR][1000 genomes]
rs11840648	0.86[EUR][1000 genomes]
rs11840740	0.98[ASN][1000 genomes]
rs11841357	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11843138	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12323034	0.92[ASN][1000 genomes]
rs12323035	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12583025	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12583645	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12585712	0.85[EUR][1000 genomes]
rs12853769	0.86[EUR][1000 genomes]
rs12861375	0.97[ASN][1000 genomes]
rs12867413	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12868561	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12876835	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13378771	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1811362	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007276	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2118798	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2304638	0.97[ASN][1000 genomes]
rs2329003	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329148	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34622893	0.87[EUR][1000 genomes]
rs34710670	0.88[ASN][1000 genomes]
rs36063327	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3850061	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850062	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850064	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3861143	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3861144	0.91[ASN][1000 genomes]
rs3898550	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3898551	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3916021	0.82[ASN][1000 genomes]
rs4514565	0.91[EUR][1000 genomes]
rs4533153	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4884141	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4884142	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4885683	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55978445	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57067871	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6563146	0.89[EUR][1000 genomes]
rs6563150	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66994466	0.86[EUR][1000 genomes]
rs7318554	0.87[ASN][1000 genomes]
rs7329042	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7329614	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7330635	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7332417	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333212	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7336725	0.99[ASN][1000 genomes]
rs7982819	0.99[ASN][1000 genomes]
rs7994328	0.86[EUR][1000 genomes]
rs7995887	0.88[ASN][1000 genomes]
rs7997147	0.97[ASN][1000 genomes]
rs9318660	0.82[ASN][1000 genomes]
rs9318662	0.91[ASN][1000 genomes]
rs9318663	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9545261	0.88[ASN][1000 genomes]
rs9545268	0.97[ASN][1000 genomes]
rs9593417	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9593418	0.82[ASN][1000 genomes]
rs9593419	0.83[EUR][1000 genomes]
rs9593420	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9593421	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601280	0.89[EUR][1000 genomes]
rs9601281	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9601283	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9601285	0.84[EUR][1000 genomes]
rs9601286	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9601288	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9601289	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9601290	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9601291	0.86[ASN][1000 genomes]
rs9601293	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9601294	0.99[ASN][1000 genomes]
rs9805460	0.87[EUR][1000 genomes]
rs996823	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs996824	0.83[AMR][1000 genomes];0.90[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	nsv832658	chr13:80486980-80680221	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv562417	chr13:80489814-80618915	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv900591	chr13:80512487-80613204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv900592	chr13:80512487-80715893	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80505800-80513400	Enhancers	HUVEC	blood vessel
2	chr13:80507400-80513600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:80508400-80512800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:80508600-80512600	Enhancers	NHDF-Ad	bronchial
5	chr13:80508800-80512600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr13:80509000-80512600	Enhancers	HMEC	breast
7	chr13:80509000-80514400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:80509200-80512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:80509200-80512600	Enhancers	HSMMtube	muscle
10	chr13:80509400-80512600	Enhancers	Hela-S3	cervix
11	chr13:80509400-80512600	Enhancers	HSMM	muscle
12	chr13:80509400-80512600	Enhancers	NHEK	skin
13	chr13:80510000-80512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:80510000-80512800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:80510200-80512600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr13:80510600-80513200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:80511000-80514000	Weak transcription	Fetal Kidney	kidney
18	chr13:80511200-80513400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr13:80511200-80514400	Enhancers	Brain Cingulate Gyrus	brain
20	chr13:80511400-80512600	Enhancers	Brain Angular Gyrus	brain
21	chr13:80511400-80512800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr13:80511400-80514400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:80511600-80512600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:80511600-80512600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:80511600-80514400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr13:80511800-80512600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr13:80511800-80514200	Enhancers	Brain Anterior Caudate	brain
28	chr13:80512000-80513000	Enhancers	Brain Substantia Nigra	brain
29	chr13:80512000-80521000	Weak transcription	Brain Germinal Matrix	brain
30	chr13:80512400-80512600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:80512400-80512800	Enhancers	Brain Hippocampus Middle	brain
32	chr13:80512400-80514000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr13:80512400-80515400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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