Variant report

Variant	rs867046
Chromosome Location	chr2:111706226-111706227
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12474577	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[MEX][hapmap];0.82[AMR][1000 genomes]
rs12479102	0.91[ASN][1000 genomes]
rs12999905	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1877656	0.88[YRI][hapmap]
rs2086749	0.94[YRI][hapmap]
rs35174038	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
3	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111693000-111706400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:111704000-111706400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:111704200-111706600	Enhancers	Fetal Heart	heart
4	chr2:111704200-111706800	Enhancers	Fetal Muscle Trunk	muscle
5	chr2:111704200-111706800	Enhancers	Left Ventricle	heart
6	chr2:111704200-111707000	Enhancers	Fetal Muscle Leg	muscle
7	chr2:111704200-111709600	Enhancers	Fetal Lung	lung
8	chr2:111704600-111706600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:111704600-111707000	Enhancers	Right Atrium	heart
10	chr2:111704800-111707200	Enhancers	Fetal Stomach	stomach
11	chr2:111705200-111706400	Enhancers	Colon Smooth Muscle	Colon
12	chr2:111705400-111706600	Enhancers	Fetal Intestine Large	intestine
13	chr2:111705400-111706800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:111705600-111706600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:111705600-111706600	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:111705800-111706600	Enhancers	Brain Germinal Matrix	brain
17	chr2:111706200-111706600	Enhancers	Right Ventricle	heart
18	chr2:111706200-111707000	Enhancers	Lung	lung

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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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