Variant report

Variant	rs1511884
Chromosome Location	chr2:188209159-188209160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10177093	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10931285	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883913	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12469000	0.80[ASN][1000 genomes]
rs12475425	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12477273	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12479177	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12619637	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12986579	0.83[ASN][1000 genomes]
rs1511879	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2349313	0.81[EUR][1000 genomes]
rs3771089	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3771091	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4399679	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6710629	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7597989	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs870509	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs870882	0.85[EUR][1000 genomes];0.86[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188210200	Weak transcription	Ovary	ovary
3	chr2:188203800-188210400	Weak transcription	Left Ventricle	heart
4	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:188204600-188213400	Weak transcription	Fetal Lung	lung
7	chr2:188206800-188213800	Strong transcription	HUVEC	blood vessel
8	chr2:188207600-188210200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:188208200-188209800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:188208400-188210200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:188208400-188210200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:188208400-188210200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:188208400-188210200	Weak transcription	Adipose Nuclei	Adipose
14	chr2:188208600-188210600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
16	chr2:188209000-188212000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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