Variant report

Variant	rs59248240
Chromosome Location	chr1:85685357-85685358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12021868	1.00[AFR][1000 genomes]
rs12022814	1.00[AFR][1000 genomes]
rs12023751	1.00[AFR][1000 genomes]
rs12028707	1.00[AFR][1000 genomes]
rs12034359	1.00[AFR][1000 genomes]
rs12034501	1.00[AFR][1000 genomes]
rs12036276	1.00[AFR][1000 genomes]
rs12039804	1.00[AFR][1000 genomes]
rs12040408	1.00[AFR][1000 genomes]
rs12041155	1.00[AFR][1000 genomes]
rs12043409	1.00[AFR][1000 genomes]
rs12045141	1.00[AFR][1000 genomes]
rs17099217	1.00[AFR][1000 genomes]
rs17121656	1.00[AFR][1000 genomes]
rs17121745	1.00[AFR][1000 genomes]
rs17121935	1.00[AFR][1000 genomes]
rs2305930	1.00[AFR][1000 genomes]
rs2305931	1.00[AFR][1000 genomes]
rs28410552	1.00[AFR][1000 genomes]
rs41289039	1.00[AFR][1000 genomes]
rs56191061	1.00[AFR][1000 genomes]
rs57222060	1.00[AFR][1000 genomes]
rs57516443	1.00[AFR][1000 genomes]
rs57992354	0.96[ASN][1000 genomes]
rs58068482	1.00[AFR][1000 genomes]
rs58246117	1.00[AFR][1000 genomes]
rs58604582	1.00[AFR][1000 genomes]
rs58659750	1.00[AFR][1000 genomes]
rs59030463	1.00[AFR][1000 genomes]
rs60866399	1.00[AFR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85673800-85690400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85681400-85686600	Weak transcription	Stomach Mucosa	stomach
4	chr1:85681400-85690400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:85681800-85685600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:85684400-85688200	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:85684600-85685800	Enhancers	K562	blood
8	chr1:85684600-85687000	Enhancers	Colon Smooth Muscle	Colon
9	chr1:85684600-85689200	Enhancers	Fetal Stomach	stomach
10	chr1:85685000-85685400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:85685000-85685800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr1:85685200-85685400	Enhancers	HUES64 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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