Variant report

Variant	rs11958509
Chromosome Location	chr5:108361566-108361567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10040665	0.82[JPT][hapmap]
rs10069467	0.81[JPT][hapmap]
rs10076453	0.82[JPT][hapmap]
rs10477438	0.80[JPT][hapmap]
rs1159990	0.87[JPT][hapmap]
rs1427863	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17161586	0.84[YRI][hapmap]
rs2043287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2416195	0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs3797838	0.81[YRI][hapmap]
rs7706103	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs892009	0.85[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9326757	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][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	nsv1016343	chr5:108220116-108364687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv882691	chr5:108229760-108366473	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv4952	chr5:108324146-108369353	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108352400-108365000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:108352400-108381400	Weak transcription	Fetal Lung	lung
4	chr5:108355200-108363800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:108356000-108399000	Weak transcription	HSMM	muscle
6	chr5:108356400-108364200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:108358000-108366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:108358400-108366600	Weak transcription	Esophagus	oesophagus
10	chr5:108358800-108361800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:108359200-108363600	Weak transcription	NHDF-Ad	bronchial
12	chr5:108360200-108364000	Weak transcription	HepG2	liver
13	chr5:108360200-108364200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:108360200-108374000	Weak transcription	HUVEC	blood vessel
15	chr5:108360400-108361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:108360400-108362000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:108360400-108362800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:108360400-108362800	Weak transcription	Lung	lung
19	chr5:108360400-108363200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:108360400-108364200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:108360400-108364200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:108360400-108364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:108360400-108366000	Weak transcription	Fetal Heart	heart
24	chr5:108360400-108366200	Weak transcription	Left Ventricle	heart
25	chr5:108360400-108366600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr5:108360400-108367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:108360400-108369000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:108360400-108371400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:108360400-108373400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:108360400-108381200	Weak transcription	Adipose Nuclei	Adipose
31	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
34	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:108360400-108400400	Weak transcription	NHEK	skin
37	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
38	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
39	chr5:108360600-108363200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:108360600-108364200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:108360600-108365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:108360600-108366200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:108360600-108382400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:108360600-108385000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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