Variant report

Variant	rs6870948
Chromosome Location	chr5:75674681-75674682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10071622	0.86[ASN][1000 genomes]
rs57064503	0.86[ASN][1000 genomes]
rs6859353	0.90[ASN][1000 genomes]
rs6859902	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860083	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860113	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6860973	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6872965	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6881881	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6882055	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6886369	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6890217	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7704494	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7704498	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][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:17 , 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	chr5:75672600-75675000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:75672800-75676200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:75672800-75676400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:75673000-75676000	Weak transcription	K562	blood
11	chr5:75674000-75677400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:75674200-75676200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:75674200-75677200	Enhancers	Primary hematopoietic stem cells	blood
14	chr5:75674200-75677200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:75674400-75674800	Enhancers	HepG2	liver
16	chr5:75674600-75675000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:75674600-75677000	Enhancers	Primary T regulatory cells fromperipheralblood	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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