Variant report

Variant	rs17007048
Chromosome Location	chr4:142167488-142167489
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6811442	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832939	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7695364	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757959	chr4:142065661-142367951	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759287	chr4:142065661-142367951	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:142166600-142169200	Enhancers	HSMMtube	muscle
2	chr4:142166600-142169400	Enhancers	HSMM	muscle
3	chr4:142166600-142169400	Enhancers	Osteobl	bone
4	chr4:142166600-142169600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:142166800-142167600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:142166800-142169600	Enhancers	NHDF-Ad	bronchial
7	chr4:142167000-142167800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:142167000-142168000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:142167000-142168200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:142167000-142170400	Enhancers	Fetal Lung	lung
11	chr4:142167200-142170200	Enhancers	Fetal Heart	heart
12	chr4:142167400-142167600	Enhancers	NHLF	lung
13	chr4:142167400-142167800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:142167400-142167800	Flanking Active TSS	NH-A	brain
15	chr4:142167400-142168000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:142167400-142169200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:142167400-142169800	Enhancers	K562	blood

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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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