Variant report

Variant	rs1953270
Chromosome Location	chr14:32353465-32353466
allele	G/T
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:35)

rs_ID	r²[population]
rs10130764	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10141141	0.87[ASN][1000 genomes]
rs10150448	0.85[AMR][1000 genomes]
rs10483392	0.97[ASN][1000 genomes]
rs11156717	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12431828	0.92[ASN][1000 genomes]
rs12589862	0.87[JPT][hapmap]
rs17466348	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1889387	0.89[ASN][1000 genomes]
rs1959073	0.85[ASN][1000 genomes]
rs1959074	0.84[ASN][1000 genomes]
rs1959075	0.85[ASN][1000 genomes]
rs2039484	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2039485	0.95[ASN][1000 genomes]
rs2839946	1.00[YRI][hapmap]
rs2890046	0.82[ASN][1000 genomes]
rs4474604	0.83[ASN][1000 genomes]
rs4981921	0.83[ASN][1000 genomes]
rs4981922	0.83[ASN][1000 genomes]
rs6571481	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148374	0.94[ASN][1000 genomes]
rs7149538	0.99[ASN][1000 genomes]
rs7154334	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7161640	0.81[AMR][1000 genomes]
rs8003195	0.93[ASN][1000 genomes]
rs8003582	0.85[AMR][1000 genomes]
rs8008192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8012634	1.00[YRI][hapmap]
rs8016004	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8021532	0.98[ASN][1000 genomes]
rs8021918	0.81[CEU][hapmap]
rs8022047	0.92[ASN][1000 genomes]
rs8022995	0.87[CEU][hapmap]
rs8023131	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564180	chr14:31958566-32368934	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv564181	chr14:31958761-32363980	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv564182	chr14:32110519-32584337	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1046526	chr14:32110537-32567426	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv526200	chr14:32308511-32454372	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32347000-32361400	Weak transcription	Right Atrium	heart
2	chr14:32349600-32355200	Enhancers	HMEC	breast
3	chr14:32349800-32355000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:32349800-32355000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:32349800-32355200	Enhancers	NHEK	skin
6	chr14:32349800-32356000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:32350600-32360600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:32351400-32355400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:32351600-32353600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:32351600-32353600	Weak transcription	HSMM	muscle
11	chr14:32351600-32353600	Weak transcription	NH-A	brain
12	chr14:32351600-32353600	Weak transcription	NHLF	lung
13	chr14:32351600-32354000	Weak transcription	NHDF-Ad	bronchial
14	chr14:32351600-32362000	Weak transcription	Right Ventricle	heart
15	chr14:32351800-32353800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:32351800-32354000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:32351800-32354400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:32351800-32355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:32351800-32355400	Weak transcription	Osteobl	bone
20	chr14:32351800-32360600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:32351800-32361400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:32351800-32361400	Weak transcription	Left Ventricle	heart
23	chr14:32351800-32361600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:32351800-32362000	Weak transcription	Adipose Nuclei	Adipose
25	chr14:32351800-32362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:32351800-32362800	Weak transcription	Spleen	Spleen
27	chr14:32352000-32354200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:32352000-32357800	Weak transcription	Brain Germinal Matrix	brain
29	chr14:32353200-32353800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr14:32353200-32353800	Enhancers	HSMMtube	muscle
31	chr14:32353200-32354600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:32353400-32353600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:32353400-32353600	Enhancers	Placenta	Placenta
34	chr14:32353400-32353600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr14:32353400-32353800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:32353400-32354200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:32353400-32354400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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