Variant report

Variant	rs517880
Chromosome Location	chr5:80262170-80262171
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10223133	1.00[MKK][hapmap]
rs11750489	1.00[YRI][hapmap]
rs538957	1.00[YRI][hapmap]
rs557090	0.95[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv598747	chr5:79996632-80322712	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021784	chr5:80023679-80313586	ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv537787	chr5:80023679-80313586	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830358	chr5:80197105-80358920	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80258000-80262400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:80258000-80263600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:80258000-80269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:80259000-80264000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr5:80259600-80262600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:80260000-80263600	Weak transcription	Adipose Nuclei	Adipose
7	chr5:80260200-80263400	Weak transcription	Osteobl	bone
8	chr5:80260200-80264000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr5:80260200-80264000	Weak transcription	Brain Anterior Caudate	brain
10	chr5:80260400-80263800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:80260600-80263200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:80260600-80263400	Enhancers	A549	lung
13	chr5:80260800-80262200	Enhancers	NH-A	brain
14	chr5:80260800-80263400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:80260800-80263400	Weak transcription	Hela-S3	cervix
16	chr5:80260800-80263600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr5:80260800-80264600	Enhancers	HUVEC	blood vessel
18	chr5:80260800-80265800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:80261000-80263400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:80261000-80263400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:80261000-80263400	Weak transcription	Brain Substantia Nigra	brain
22	chr5:80261000-80263600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:80261000-80263600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr5:80261000-80263600	Weak transcription	Brain Hippocampus Middle	brain
25	chr5:80261000-80263600	Enhancers	NHDF-Ad	bronchial
26	chr5:80261000-80263800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:80261000-80270200	Weak transcription	Right Atrium	heart
28	chr5:80261000-80270800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr5:80261200-80263400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:80261200-80263400	Weak transcription	NHLF	lung
31	chr5:80261200-80263600	Enhancers	HepG2	liver
32	chr5:80261200-80263800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:80261600-80263000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:80261600-80263400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:80261600-80263600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:80261600-80263600	Weak transcription	Brain Angular Gyrus	brain
37	chr5:80262000-80263400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:80262000-80263400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr5:80262000-80263800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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