Variant report

Variant	rs698580
Chromosome Location	chr2:188229739-188229740
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1011989	0.91[ASN][1000 genomes]
rs13431269	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1398058	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1706287	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56295242	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60980181	0.87[ASN][1000 genomes]
rs696573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698578	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698581	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs840617	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858745	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858747	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858748	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858749	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858750	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858751	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858752	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858754	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1003061	chr2:187950057-188282330	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1000617	chr2:187950057-188290511	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv533935	chr2:188089148-188284766	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
3	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
4	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
5	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
6	chr2:188214600-188257800	Weak transcription	Ovary	ovary
7	chr2:188223000-188236800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:188223000-188255200	Weak transcription	Fetal Stomach	stomach
9	chr2:188223600-188244400	Weak transcription	Fetal Kidney	kidney
10	chr2:188223800-188236000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:188223800-188239600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:188223800-188242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:188223800-188246400	Weak transcription	Left Ventricle	heart
14	chr2:188223800-188250800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:188223800-188257800	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:188225000-188251200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:188225800-188239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:188227600-188233800	Strong transcription	HUVEC	blood vessel
19	chr2:188228200-188238400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:188228600-188237400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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