Variant report

Variant	rs10473971
Chromosome Location	chr5:74302241-74302242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4285200	0.86[AFR][1000 genomes]
rs4290996	0.90[AFR][1000 genomes]
rs4555772	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62369160	0.96[AFR][1000 genomes]
rs6874469	0.86[AFR][1000 genomes]
rs7725085	0.85[AFR][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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74301800-74302400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:74301800-74302600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr5:74302000-74302400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:74302200-74302400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:74302200-74303600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr5:74302200-74304600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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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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