Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10514896	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1108977	0.88[ASN][1000 genomes]
rs12188899	0.91[ASN][1000 genomes]
rs16877953	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16877954	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16877976	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2961773	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2961774	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34761935	0.91[ASN][1000 genomes]
rs36043303	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs37686	0.82[ASN][1000 genomes]
rs37687	0.82[ASN][1000 genomes]
rs37689	0.81[ASN][1000 genomes]
rs37692	0.84[ASN][1000 genomes]
rs37696	0.83[ASN][1000 genomes]
rs37704	0.84[ASN][1000 genomes]
rs37705	0.84[ASN][1000 genomes]
rs37706	0.84[ASN][1000 genomes]
rs37707	0.83[ASN][1000 genomes]
rs37708	0.83[ASN][1000 genomes]
rs37709	0.84[ASN][1000 genomes]
rs39726	0.80[ASN][1000 genomes]
rs42222	0.84[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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1015381	chr5:59678425-59772485	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1034331	chr5:59678773-59773467	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59647200-59694200	Weak transcription	Primary B cells from cord blood	blood
2	chr5:59680200-59682600	Enhancers	Aorta	Aorta
3	chr5:59680200-59683800	Enhancers	Stomach Smooth Muscle	stomach
4	chr5:59680800-59683800	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:59680800-59684200	Enhancers	Colon Smooth Muscle	Colon
6	chr5:59681000-59683000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:59681200-59682200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:59681200-59683200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:59681200-59683600	Enhancers	Fetal Brain Male	brain
10	chr5:59681400-59681800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:59681400-59681800	Enhancers	Adipose Nuclei	Adipose
12	chr5:59681400-59682400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:59681400-59682400	Weak transcription	Fetal Stomach	stomach
14	chr5:59681400-59682600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:59681400-59682800	Weak transcription	A549	lung
16	chr5:59681400-59683000	Enhancers	Fetal Brain Female	brain
17	chr5:59681600-59683000	Enhancers	Brain Germinal Matrix	brain
18	chr5:59681600-59683400	Enhancers	Cortex derived primary cultured neurospheres	brain

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