Variant report

Variant	rs6889373
Chromosome Location	chr5:49849770-49849771
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11739291	0.80[ASN][1000 genomes]
rs13157992	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs13173678	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1833900	0.81[CHB][hapmap]
rs2036901	0.83[CHB][hapmap]
rs2036902	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2271236	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2668024	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs28445612	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2883164	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs303219	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3857298	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6450186	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874016	0.82[ASN][1000 genomes]
rs7704686	0.80[ASN][1000 genomes]
rs7712849	0.83[CHB][hapmap]
rs9292005	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032003	chr5:49455624-49881491	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1023981	chr5:49584188-49871537	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv537757	chr5:49584188-49871537	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022067	chr5:49584188-49960083	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv537758	chr5:49584188-49960083	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6889373	EMB	cis	Whole Blood	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49849200-49849800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:49849200-49849800	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr5:49849200-49849800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:49849200-49849800	Flanking Active TSS	Dnd41	blood
5	chr5:49849200-49849800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr5:49849200-49850000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr5:49849200-49850200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:49849200-49850200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:49849200-49851000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:49849400-49849800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:49849400-49849800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr5:49849400-49849800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:49849400-49849800	Enhancers	Primary B cells from peripheral blood	blood
14	chr5:49849400-49849800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr5:49849400-49849800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:49849400-49849800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:49849400-49849800	Active TSS	Brain Hippocampus Middle	brain
18	chr5:49849400-49849800	Enhancers	Stomach Mucosa	stomach
19	chr5:49849400-49849800	Flanking Active TSS	NHEK	skin
20	chr5:49849400-49850000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:49849400-49850200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr5:49849400-49850800	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr5:49849400-49851000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr5:49849600-49849800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:49849600-49849800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:49849600-49849800	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr5:49849600-49849800	Flanking Active TSS	HMEC	breast

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