Variant report

Variant	rs858749
Chromosome Location	chr2:188218937-188218938
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1011989	0.94[ASN][1000 genomes]
rs13431269	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1398058	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1706287	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56295242	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60980181	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs696573	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696574	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698580	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs698581	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs840617	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs858745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858747	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs858754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
5	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
7	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
8	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
9	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
10	chr2:188212200-188222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
12	chr2:188214600-188257800	Weak transcription	Ovary	ovary
13	chr2:188215000-188224600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:188215600-188222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:188215600-188222600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:188215600-188225200	Weak transcription	Esophagus	oesophagus
17	chr2:188216200-188229000	Weak transcription	Fetal Intestine Large	intestine
18	chr2:188217000-188221800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:188217000-188222400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:188217000-188222600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:188217000-188222600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:188217000-188222600	Weak transcription	Adipose Nuclei	Adipose
23	chr2:188217800-188220200	Genic enhancers	HUVEC	blood vessel
24	chr2:188218800-188219200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr2:188218800-188220200	Enhancers	Primary monocytes fromperipheralblood	blood

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