Variant report

Variant	rs270647
Chromosome Location	chr5:5066606-5066607
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1393078	0.89[ASN][1000 genomes]
rs156251	0.91[ASN][1000 genomes]
rs270624	0.82[AFR][1000 genomes]
rs270627	0.82[AFR][1000 genomes]
rs270642	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs272162	0.89[ASN][1000 genomes]
rs860953	0.82[AFR][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	nsv1021653	chr5:4932992-5201887	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2757980	chr5:4980876-5184615	Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2759318	chr5:4980876-5184615	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1024784	chr5:4980979-5391231	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv830194	chr5:5002459-5187667	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5065800-5066800	Enhancers	GM12878-XiMat	blood
2	chr5:5066000-5067000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:5066000-5067000	Enhancers	Fetal Muscle Leg	muscle
4	chr5:5066000-5067200	Enhancers	NHEK	skin
5	chr5:5066000-5067600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:5066000-5067600	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:5066200-5066800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:5066200-5066800	Enhancers	Adipose Nuclei	Adipose
9	chr5:5066200-5067200	Enhancers	Ovary	ovary
10	chr5:5066400-5066800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:5066400-5066800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:5066400-5066800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:5066400-5067000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:5066400-5067200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:5066400-5067200	Enhancers	NH-A	brain
16	chr5:5066600-5067000	Enhancers	Muscle Satellite Cultured Cells	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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