Variant report

Variant	rs609233
Chromosome Location	chr8:60964196-60964197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2688655	0.94[ASN][1000 genomes]
rs473097	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs507200	0.92[EUR][1000 genomes]
rs593206	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs632957	0.93[EUR][1000 genomes]
rs647160	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60940000-60968400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:60962000-60964400	Enhancers	GM12878-XiMat	blood
3	chr8:60962600-60964800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr8:60963000-60964200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr8:60963400-60964200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:60963800-60964200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:60963800-60964800	Enhancers	HUVEC	blood vessel
8	chr8:60964000-60964200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr8:60964000-60964400	Enhancers	Duodenum Mucosa	Duodenum
10	chr8:60964000-60964600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:60964000-60964600	Enhancers	Fetal Thymus	thymus
12	chr8:60964000-60964800	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:60964000-60964800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:60964000-60965000	Enhancers	Primary B cells from cord blood	blood
15	chr8:60964000-60965000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:60964000-60965000	Enhancers	Dnd41	blood
17	chr8:60964000-60965400	Enhancers	K562	blood
18	chr8:60964000-60965600	Enhancers	HMEC	breast

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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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