Variant report

Variant	rs7604084
Chromosome Location	chr2:134060719-134060720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs16823380	0.80[ASW][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.81[MEX][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2033307	0.80[CEU][hapmap]
rs57460136	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58311735	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs59842197	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61334934	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61620125	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72987646	0.98[ASN][1000 genomes]
rs73957013	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73957014	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7587614	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934265	0.80[CEU][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap]

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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1003964	chr2:134039363-134088319	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv962078	chr2:134055706-134061832	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134057000-134067800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:134060400-134060800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:134060400-134061200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:134060400-134061600	Enhancers	NHDF-Ad	bronchial
5	chr2:134060400-134061800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:134060600-134060800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:134060600-134061000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:134060600-134061200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:134060600-134061400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:134060600-134061400	Enhancers	A549	lung
11	chr2:134060600-134061600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:134060600-134061600	Enhancers	NHLF	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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