Variant report

Variant	rs4235697
Chromosome Location	chr5:75674081-75674082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs192196	0.93[EUR][1000 genomes]
rs2455429	0.87[EUR][1000 genomes]
rs246784	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs246785	0.96[EUR][1000 genomes]
rs246789	0.91[EUR][1000 genomes]
rs2913245	0.83[EUR][1000 genomes]
rs2972864	0.85[EUR][1000 genomes]
rs2972865	0.85[EUR][1000 genomes]
rs2972866	0.81[EUR][1000 genomes]
rs372733	0.91[EUR][1000 genomes]
rs405030	0.90[EUR][1000 genomes]
rs4703706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4704307	0.97[EUR][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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv980686	chr5:75671882-75674932	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr5:75668600-75676600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:75668800-75676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:75669000-75676400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:75669000-75676400	Weak transcription	Placenta	Placenta
5	chr5:75669000-75676800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr5:75669000-75682400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr5:75672400-75674200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:75672400-75674400	Weak transcription	HepG2	liver
9	chr5:75672600-75675000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:75672800-75676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:75672800-75676400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:75673000-75676000	Weak transcription	K562	blood
13	chr5:75673200-75674200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:75674000-75674200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:75674000-75677400	Enhancers	Primary hematopoietic stem cells short term culture	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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