Variant report

Variant	rs72653690
Chromosome Location	chr8:60239059-60239060
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10957086	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12375371	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4386970	0.94[EUR][1000 genomes]
rs67876246	0.94[EUR][1000 genomes]
rs72653671	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72653681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72653682	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72653698	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72653699	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72653700	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72655507	1.00[EUR][1000 genomes]
rs72655510	0.97[EUR][1000 genomes]
rs72655513	0.97[EUR][1000 genomes]
rs7842970	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831329	chr8:60162977-60356031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60236600-60245200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:60238000-60239200	Enhancers	Colon Smooth Muscle	Colon
3	chr8:60238000-60239200	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:60238400-60240200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr8:60238400-60241200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:60238400-60242400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:60238800-60239200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr8:60238800-60239400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:60238800-60240600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:60238800-60241000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:60238800-60242200	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:60239000-60239200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr8:60239000-60239200	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr8:60239000-60239600	Enhancers	Rectal Mucosa Donor 31	rectum

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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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