Variant report

Variant	rs817460
Chromosome Location	chr1:85672081-85672082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11805576	1.00[AMR][1000 genomes]
rs17123230	1.00[AMR][1000 genomes]
rs17125247	1.00[AMR][1000 genomes]
rs2790912	1.00[AMR][1000 genomes]
rs709784	1.00[AMR][1000 genomes]
rs817402	1.00[AMR][1000 genomes]
rs817405	1.00[AMR][1000 genomes]
rs817408	1.00[AMR][1000 genomes]
rs817412	1.00[AMR][1000 genomes]
rs817442	1.00[AMR][1000 genomes]
rs817443	1.00[AMR][1000 genomes]
rs817444	1.00[AMR][1000 genomes]
rs817448	1.00[AMR][1000 genomes]
rs817450	1.00[AMR][1000 genomes]
rs817454	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817455	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817459	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817461	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85668400-85677800	Weak transcription	Right Atrium	heart
3	chr1:85668600-85680800	Weak transcription	K562	blood
4	chr1:85668800-85672200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:85670800-85679400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:85672000-85672200	Enhancers	Stomach Smooth Muscle	stomach
7	chr1:85672000-85672600	Enhancers	Colon Smooth Muscle	Colon
8	chr1:85672000-85672800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:85672000-85673200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:85672000-85673200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:85672000-85673400	Enhancers	HUES64 Cell Line	embryonic stem cell

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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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