Variant report

Variant	rs2039484
Chromosome Location	chr14:32351334-32351335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10130764	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10135411	0.82[CEU][hapmap]
rs10141141	0.91[ASN][1000 genomes]
rs10148852	0.85[CEU][hapmap];0.81[JPT][hapmap]
rs10150448	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10483392	0.94[ASN][1000 genomes]
rs11156717	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12431828	0.89[ASN][1000 genomes]
rs12589862	0.83[JPT][hapmap]
rs1889387	0.93[ASN][1000 genomes]
rs1953270	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1959071	0.82[CEU][hapmap];0.81[JPT][hapmap]
rs1959073	0.88[ASN][1000 genomes]
rs1959074	0.87[ASN][1000 genomes]
rs1959075	0.88[ASN][1000 genomes]
rs2039485	0.99[ASN][1000 genomes]
rs2890046	0.85[ASN][1000 genomes]
rs4474604	0.87[ASN][1000 genomes]
rs4981134	0.81[AMR][1000 genomes]
rs4981135	0.81[AMR][1000 genomes]
rs4981918	0.81[ASN][1000 genomes]
rs4981921	0.86[ASN][1000 genomes]
rs4981922	0.86[ASN][1000 genomes]
rs6571481	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7141300	0.86[CEU][hapmap]
rs7144599	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7148271	0.81[CEU][hapmap]
rs7148374	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149538	0.95[ASN][1000 genomes]
rs7154334	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161640	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003195	0.89[ASN][1000 genomes]
rs8003582	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8005663	0.86[CEU][hapmap];0.82[JPT][hapmap]
rs8008192	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8015328	0.81[JPT][hapmap]
rs8016004	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8021532	0.94[ASN][1000 genomes]
rs8021918	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8022047	0.89[ASN][1000 genomes]
rs8022995	0.96[CEU][hapmap];0.83[JPT][hapmap]
rs8023131	0.83[AMR][1000 genomes];0.82[EUR][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	chr14:32346800-32351400	Weak transcription	Pancreas	Pancrea
2	chr14:32346800-32351400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:32347000-32351400	Weak transcription	Fetal Lung	lung
4	chr14:32347000-32361400	Weak transcription	Right Atrium	heart
5	chr14:32347800-32351400	Weak transcription	Spleen	Spleen
6	chr14:32348200-32351400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:32349000-32351600	Enhancers	NHDF-Ad	bronchial
8	chr14:32349200-32351400	Weak transcription	Adipose Nuclei	Adipose
9	chr14:32349400-32352400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:32349600-32351600	Enhancers	HSMM	muscle
11	chr14:32349600-32355200	Enhancers	HMEC	breast
12	chr14:32349800-32351400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:32349800-32351600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:32349800-32351600	Enhancers	NHLF	lung
15	chr14:32349800-32351800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:32349800-32355000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:32349800-32355000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:32349800-32355200	Enhancers	NHEK	skin
19	chr14:32349800-32356000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:32350000-32351800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:32350200-32351600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:32350400-32351600	Enhancers	HSMMtube	muscle
23	chr14:32350400-32352000	Enhancers	Brain Germinal Matrix	brain
24	chr14:32350600-32351400	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:32350600-32351400	Weak transcription	Fetal Intestine Large	intestine
26	chr14:32350600-32351400	Weak transcription	Gastric	stomach
27	chr14:32350600-32351400	Weak transcription	Left Ventricle	heart
28	chr14:32350600-32353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:32350600-32360600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:32350800-32351400	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:32350800-32351600	Enhancers	NH-A	brain
32	chr14:32350800-32351800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:32350800-32351800	Enhancers	Osteobl	bone
34	chr14:32350800-32352000	Enhancers	Muscle Satellite Cultured Cells	--
35	chr14:32351000-32351400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:32351000-32351400	Weak transcription	Right Ventricle	heart
37	chr14:32351200-32353200	Weak transcription	Placenta Amnion	Placenta Amnion

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