Variant report

Variant	rs702597
Chromosome Location	chr5:57702480-57702481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1508920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151918	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs181748	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs244699	0.95[ASN][1000 genomes]
rs244701	0.92[ASN][1000 genomes]
rs244702	0.95[ASN][1000 genomes]
rs245458	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs245459	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2652497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2662609	1.00[ASN][1000 genomes]
rs26970	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs26971	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26972	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26973	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs26974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26975	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26977	0.95[ASN][1000 genomes]
rs27568	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs27724	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs27937	0.95[ASN][1000 genomes]
rs28017	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs32629	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36646	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36647	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs375523	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs378828	0.95[ASN][1000 genomes]
rs393809	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs40169	0.95[ASN][1000 genomes]
rs40622	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs420498	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs42317	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs435805	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs445309	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs696190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696191	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697136	0.98[ASN][1000 genomes]
rs697137	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs702596	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs702598	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs834934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs835232	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508358	chr5:57673230-57709684	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1028460	chr5:57691003-57719435	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57699000-57705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:57699600-57704600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:57699600-57708200	Enhancers	HMEC	breast
4	chr5:57699800-57704800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:57700000-57708000	Enhancers	NHEK	skin
6	chr5:57700400-57704600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:57700600-57702600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr5:57700600-57703000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr5:57700600-57703600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:57700600-57703600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:57700600-57703600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr5:57701000-57703600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr5:57701000-57705800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:57701200-57703600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:57701400-57706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:57701600-57702800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:57702200-57702800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:57702200-57703000	Enhancers	NH-A	brain
19	chr5:57702200-57703600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:57702200-57703600	Enhancers	HSMMtube	muscle
21	chr5:57702200-57703800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:57702200-57703800	Enhancers	Osteobl	bone
23	chr5:57702200-57704200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:57702400-57702800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:57702400-57702800	Enhancers	A549	lung
26	chr5:57702400-57703200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:57702400-57704000	Enhancers	NHDF-Ad	bronchial
28	chr5:57702400-57705600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:57702400-57706600	Enhancers	HUES48 Cell Line	embryonic stem cell

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