Variant report

Variant	rs3861144
Chromosome Location	chr13:80510606-80510607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1006458	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11840740	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11843138	0.88[ASN][1000 genomes]
rs12323034	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12323035	0.84[ASN][1000 genomes]
rs12583025	0.91[ASN][1000 genomes]
rs12583645	0.91[ASN][1000 genomes]
rs12861375	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12876835	0.85[ASN][1000 genomes]
rs1811362	0.84[ASN][1000 genomes]
rs2304638	0.89[ASN][1000 genomes]
rs2329003	0.90[ASN][1000 genomes]
rs2329144	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2329147	0.80[ASN][1000 genomes]
rs34710670	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36063327	0.91[ASN][1000 genomes]
rs3843950	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3850060	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3861143	0.91[ASN][1000 genomes]
rs3916021	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4052505	0.91[ASN][1000 genomes]
rs4290373	0.84[ASN][1000 genomes]
rs4306392	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4885680	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4885681	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4885683	0.87[ASN][1000 genomes]
rs6563150	0.90[ASN][1000 genomes]
rs7318554	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7332417	0.91[ASN][1000 genomes]
rs7336725	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7982819	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995887	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7997147	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9318660	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9318662	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9318663	0.89[ASN][1000 genomes]
rs9545250	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9545261	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9545268	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9545275	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9545281	0.80[ASN][1000 genomes]
rs9565536	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9574522	0.80[ASN][1000 genomes]
rs9593418	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9593420	0.86[ASN][1000 genomes]
rs9593421	0.90[ASN][1000 genomes]
rs9601291	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9601293	0.91[ASN][1000 genomes]
rs9601294	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[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	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80505800-80513400	Enhancers	HUVEC	blood vessel
2	chr13:80506600-80512200	Enhancers	Osteobl	bone
3	chr13:80506800-80511600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:80507400-80513600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:80508400-80512800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr13:80508600-80512600	Enhancers	NHDF-Ad	bronchial
7	chr13:80508800-80512400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:80508800-80512400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:80508800-80512600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr13:80509000-80512600	Enhancers	HMEC	breast
11	chr13:80509000-80514400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr13:80509200-80512600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:80509200-80512600	Enhancers	HSMMtube	muscle
14	chr13:80509400-80511200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:80509400-80512000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:80509400-80512400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:80509400-80512400	Enhancers	NHLF	lung
18	chr13:80509400-80512600	Enhancers	Hela-S3	cervix
19	chr13:80509400-80512600	Enhancers	HSMM	muscle
20	chr13:80509400-80512600	Enhancers	NHEK	skin
21	chr13:80509600-80512400	Enhancers	NH-A	brain
22	chr13:80509800-80510800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:80509800-80511000	Enhancers	Brain Anterior Caudate	brain
24	chr13:80509800-80511000	Enhancers	Brain Substantia Nigra	brain
25	chr13:80509800-80512000	Flanking Active TSS	A549	lung
26	chr13:80509800-80512200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:80510000-80510800	Enhancers	Brain Cingulate Gyrus	brain
28	chr13:80510000-80510800	Enhancers	Brain Hippocampus Middle	brain
29	chr13:80510000-80511000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr13:80510000-80511200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr13:80510000-80511400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr13:80510000-80512600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:80510000-80512800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:80510200-80510800	Enhancers	Psoas Muscle	Psoas
35	chr13:80510200-80510800	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:80510200-80510800	Enhancers	Stomach Smooth Muscle	stomach
37	chr13:80510200-80511000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr13:80510200-80511200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:80510200-80511200	Enhancers	Fetal Brain Female	brain
40	chr13:80510200-80512600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr13:80510400-80510800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:80510400-80510800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr13:80510400-80510800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr13:80510400-80510800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr13:80510400-80511000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr13:80510400-80511000	Enhancers	Ovary	ovary
47	chr13:80510400-80511200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr13:80510400-80511200	Enhancers	Adipose Nuclei	Adipose
49	chr13:80510400-80511200	Enhancers	Colon Smooth Muscle	Colon
50	chr13:80510400-80511200	Enhancers	Skeletal Muscle Male	skeletal muscle

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