Variant report

Variant	rs12516982
Chromosome Location	chr5:9038951-9038952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11134348	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11739474	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11742324	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745238	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954862	0.89[ASN][1000 genomes]
rs12520615	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12521925	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1354570	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881875	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881898	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881901	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881912	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881913	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881928	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16881943	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1902809	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1947584	0.89[ASN][1000 genomes]
rs2388001	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388004	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2388005	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36195254	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6871654	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6889183	0.89[ASN][1000 genomes]
rs7727526	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv461944	chr5:8758041-9209831	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv597069	chr5:8758041-9209831	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv482764	chr5:8906261-9056262	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv881150	chr5:8961561-9041935	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv880848	chr5:8964069-9041935	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9031800-9041800	Weak transcription	Aorta	Aorta
2	chr5:9035000-9041800	Weak transcription	Ovary	ovary
3	chr5:9035000-9046200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:9035200-9042000	Weak transcription	Osteobl	bone
5	chr5:9035200-9042200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:9035200-9043800	Weak transcription	Pancreas	Pancrea
7	chr5:9035200-9044000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:9035200-9046000	Weak transcription	NHDF-Ad	bronchial
9	chr5:9035200-9046400	Weak transcription	NHEK	skin
10	chr5:9035400-9040400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:9035400-9040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:9035400-9043800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:9035600-9039200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:9035600-9039400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:9035600-9040400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:9035600-9046200	Weak transcription	NH-A	brain
17	chr5:9035800-9039000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr5:9035800-9042400	Weak transcription	NHLF	lung
19	chr5:9036200-9039600	Weak transcription	Dnd41	blood
20	chr5:9036600-9044000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:9036600-9057000	Weak transcription	Brain Substantia Nigra	brain
22	chr5:9037000-9042600	Weak transcription	Fetal Lung	lung
23	chr5:9037400-9039200	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:9037400-9039200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:9037400-9046000	Weak transcription	Fetal Heart	heart
26	chr5:9037600-9039800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:9037600-9041600	Weak transcription	Fetal Intestine Small	intestine
28	chr5:9037800-9040600	Weak transcription	Liver	Liver
29	chr5:9037800-9041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr5:9038000-9042200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:9038000-9043600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:9038000-9054400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:9038200-9039400	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:9038400-9040000	Weak transcription	Left Ventricle	heart
35	chr5:9038400-9041800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:9038400-9043600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr5:9038400-9049600	Weak transcription	Right Ventricle	heart
38	chr5:9038400-9056200	Weak transcription	Fetal Kidney	kidney
39	chr5:9038400-9057600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:9038600-9039000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr5:9038600-9039200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:9038600-9040200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:9038800-9039800	Strong transcription	Fetal Stomach	stomach
44	chr5:9038800-9040000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:9038800-9040600	Weak transcription	Fetal Intestine Large	intestine
46	chr5:9038800-9042200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:9038800-9063600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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