Variant report

Variant	rs62309359
Chromosome Location	chr4:48239612-48239613
allele	C/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:9)

rs_ID	r²[population]
rs1812667	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3792618	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55666922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62309355	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62309358	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62311460	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62311477	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62311483	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62311497	0.82[EUR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
2	chr4:48230000-48245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48236600-48240000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:48237000-48239800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:48237000-48239800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr4:48237000-48246200	Weak transcription	Primary B cells from cord blood	blood
7	chr4:48237200-48240000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:48237200-48240200	Weak transcription	Stomach Mucosa	stomach
9	chr4:48237400-48239800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:48237400-48239800	Weak transcription	K562	blood
11	chr4:48239200-48246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48239400-48239800	Enhancers	Primary hematopoietic stem cells	blood
13	chr4:48239400-48241000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:48239600-48240200	Enhancers	Hela-S3	cervix
15	chr4:48239600-48241000	Enhancers	Primary neutrophils fromperipheralblood	blood

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

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