Variant report

Variant	rs4985827
Chromosome Location	chr17:20971230-20971231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12600703	0.84[ASN][1000 genomes]
rs12943067	0.86[EUR][1000 genomes]
rs12946114	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1871276	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4985963	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4985967	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985975	0.85[ASN][1000 genomes]
rs6587111	0.80[AMR][1000 genomes]
rs6587114	0.86[AMR][1000 genomes];0.83[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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20967400-20973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:20969200-20972600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:20970200-20971600	Weak transcription	HSMM	muscle
4	chr17:20970200-20978600	Weak transcription	HSMMtube	muscle
5	chr17:20970400-20972800	Weak transcription	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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