Variant report

Variant	rs1500508
Chromosome Location	chr5:17264096-17264097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10054788	0.80[EUR][1000 genomes]
rs10065005	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62348043	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62348044	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs924500	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880277	chr5:16829442-17316288	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv830218	chr5:17093162-17290045	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17232800-17278800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:17242800-17275000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:17244800-17274600	Weak transcription	Ovary	ovary
4	chr5:17249400-17275200	Weak transcription	Aorta	Aorta
5	chr5:17252800-17271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:17256200-17279800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:17256400-17274600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:17256600-17275200	Weak transcription	Placenta	Placenta
9	chr5:17258200-17274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:17259000-17274600	Weak transcription	HSMMtube	muscle
11	chr5:17259000-17274800	Weak transcription	Osteobl	bone
12	chr5:17259000-17275800	Weak transcription	HMEC	breast
13	chr5:17259000-17276000	Weak transcription	HSMM	muscle
14	chr5:17259200-17274600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:17259200-17274600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:17259200-17275000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:17259200-17275200	Weak transcription	HUVEC	blood vessel
18	chr5:17259200-17275800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:17259600-17274600	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:17259800-17275200	Genic enhancers	A549	lung
21	chr5:17260000-17265200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:17260000-17275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:17260200-17274400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:17260200-17274600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr5:17260400-17265200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:17260400-17265200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:17260400-17266000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:17261000-17265200	Weak transcription	Fetal Brain Female	brain
29	chr5:17261400-17272600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:17261600-17274200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr5:17261800-17269400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:17261800-17274600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:17261800-17276000	Weak transcription	Fetal Lung	lung
34	chr5:17262000-17265400	Weak transcription	NHEK	skin
35	chr5:17262000-17276200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:17262200-17265400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:17262400-17273800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:17262600-17274600	Weak transcription	NHLF	lung
39	chr5:17262600-17277800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:17262800-17264400	Weak transcription	Fetal Brain Male	brain
41	chr5:17262800-17266000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr5:17263000-17266200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:17263200-17264200	Genic enhancers	Primary B cells from cord blood	blood
44	chr5:17263400-17264200	Enhancers	Primary B cells from peripheral blood	blood
45	chr5:17263400-17264800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:17263400-17265800	Strong transcription	NH-A	brain
47	chr5:17263600-17264200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:17263600-17264200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:17263600-17264200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr5:17263600-17264200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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