Variant report

Variant	rs506401
Chromosome Location	chr5:111265509-111265510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1003272	0.90[EUR][1000 genomes]
rs10515435	1.00[EUR][1000 genomes]
rs17133737	1.00[EUR][1000 genomes]
rs17133745	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17133824	1.00[EUR][1000 genomes]
rs17133845	1.00[EUR][1000 genomes]
rs17133847	1.00[EUR][1000 genomes]
rs17133862	1.00[EUR][1000 genomes]
rs17133873	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs17133882	1.00[CEU][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs17133892	1.00[EUR][1000 genomes]
rs34926	0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs57342469	1.00[EUR][1000 genomes]
rs575328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58429198	1.00[EUR][1000 genomes]
rs59874488	1.00[EUR][1000 genomes]
rs60095412	0.90[EUR][1000 genomes]
rs605747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61169291	1.00[EUR][1000 genomes]
rs641552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649429	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657736	1.00[EUR][1000 genomes]
rs6594547	1.00[EUR][1000 genomes]
rs7701160	1.00[EUR][1000 genomes]
rs7706739	1.00[EUR][1000 genomes]
rs7708380	1.00[EUR][1000 genomes]
rs7708790	1.00[EUR][1000 genomes]
rs7719956	1.00[EUR][1000 genomes]
rs7723663	1.00[EUR][1000 genomes]
rs7728161	1.00[EUR][1000 genomes]
rs7737873	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111262400-111267400	Enhancers	NHLF	lung
2	chr5:111262400-111269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:111262400-111269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:111262400-111269400	Enhancers	NHDF-Ad	bronchial
5	chr5:111262600-111268400	Enhancers	HSMMtube	muscle
6	chr5:111262600-111268400	Enhancers	Osteobl	bone
7	chr5:111262600-111269000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:111262600-111269400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:111263000-111269200	Enhancers	HSMM	muscle
10	chr5:111263400-111266800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:111263600-111265600	Weak transcription	Fetal Heart	heart
12	chr5:111264000-111267400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:111264000-111267400	Enhancers	NHEK	skin
14	chr5:111264200-111266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:111264200-111267400	Enhancers	HMEC	breast
16	chr5:111264400-111267200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:111264400-111267200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr5:111264800-111267200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:111265000-111265800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:111265000-111265800	Enhancers	Fetal Brain Male	brain
21	chr5:111265000-111266000	Enhancers	Fetal Brain Female	brain
22	chr5:111265000-111266200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:111265000-111266600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:111265000-111266800	Enhancers	Adipose Nuclei	Adipose
25	chr5:111265000-111267000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:111265000-111267200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:111265000-111267200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:111265000-111267200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:111265000-111269000	Enhancers	Hela-S3	cervix
30	chr5:111265000-111269000	Enhancers	NH-A	brain
31	chr5:111265200-111266000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:111265200-111270400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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