Variant report

Variant	rs56295242
Chromosome Location	chr2:188215209-188215210
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1011989	0.92[ASN][1000 genomes]
rs13431269	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1398058	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1706287	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60980181	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs696573	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs696574	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698578	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698580	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs698581	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs840617	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs858745	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858747	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858748	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858749	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858750	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858751	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858752	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs858754	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3383427	chr2:188215007-188217055	Weak transcription Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
6	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
8	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
9	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
10	chr2:188210800-188215400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
12	chr2:188212000-188215400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:188212200-188222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:188213800-188215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:188214000-188217000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:188214400-188216200	Weak transcription	Adipose Nuclei	Adipose
17	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
18	chr2:188214600-188257800	Weak transcription	Ovary	ovary
19	chr2:188214800-188215600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:188214800-188217800	Strong transcription	HUVEC	blood vessel
21	chr2:188215000-188218800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:188215000-188218800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr2:188215000-188224600	Weak transcription	Muscle Satellite Cultured Cells	--

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