Variant report

Variant	rs17689832
Chromosome Location	chr5:57031972-57031973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10447121	0.82[EUR][1000 genomes]
rs10940574	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12514617	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12514618	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12515493	0.82[EUR][1000 genomes]
rs12517867	0.82[EUR][1000 genomes]
rs12520466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12522697	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12523004	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1544621	0.82[EUR][1000 genomes]
rs17689645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2160057	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2160058	0.82[EUR][1000 genomes]
rs2192367	0.85[EUR][1000 genomes]
rs2192368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898027	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58610852	0.81[EUR][1000 genomes]
rs58632739	0.82[EUR][1000 genomes]
rs62358372	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62358374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62358380	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62358381	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62361169	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6450432	0.82[EUR][1000 genomes]
rs6450433	0.82[EUR][1000 genomes]
rs6450434	0.82[EUR][1000 genomes]
rs6450435	0.82[EUR][1000 genomes]
rs6870485	0.85[EUR][1000 genomes]
rs6891648	0.82[EUR][1000 genomes]
rs6894116	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72767430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72767434	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72767441	0.83[EUR][1000 genomes]
rs72767444	0.82[EUR][1000 genomes]
rs741181	0.83[EUR][1000 genomes]
rs7718447	0.82[EUR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr5:57029000-57034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:57029800-57034600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:57030000-57032600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:57030000-57032800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:57030000-57033200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:57030000-57034400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:57030000-57034600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:57030200-57032800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr5:57030200-57033000	Enhancers	HUVEC	blood vessel
10	chr5:57030200-57033000	Enhancers	NH-A	brain
11	chr5:57030200-57033200	Enhancers	HMEC	breast
12	chr5:57030200-57033600	Enhancers	HSMMtube	muscle
13	chr5:57030400-57032000	Weak transcription	Fetal Lung	lung
14	chr5:57030400-57032600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:57030400-57032800	Enhancers	NHEK	skin
16	chr5:57030400-57033000	Enhancers	NHLF	lung
17	chr5:57030400-57033000	Enhancers	Osteobl	bone
18	chr5:57030400-57033400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:57030400-57033400	Enhancers	NHDF-Ad	bronchial
20	chr5:57030600-57032800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:57030600-57033000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:57030600-57033000	Enhancers	Hela-S3	cervix
23	chr5:57030800-57032400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:57030800-57032800	Enhancers	Fetal Intestine Large	intestine
25	chr5:57030800-57033000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:57031000-57032400	Enhancers	Fetal Intestine Small	intestine
27	chr5:57031000-57032600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:57031200-57032200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:57031200-57032200	Weak transcription	Fetal Brain Male	brain
30	chr5:57031200-57032400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:57031200-57032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:57031200-57032600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:57031200-57034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:57031400-57033000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr5:57031600-57032000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:57031600-57032400	Flanking Active TSS	A549	lung
37	chr5:57031600-57033000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr5:57031600-57034200	Enhancers	HSMM	muscle
39	chr5:57031800-57033000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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