Variant report

Variant	rs11572845
Chromosome Location	chr1:216675717-216675718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10863247	1.00[EUR][1000 genomes]
rs11810268	1.00[EUR][1000 genomes]
rs13374171	1.00[EUR][1000 genomes]
rs17042702	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17042715	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4456155	1.00[EUR][1000 genomes]
rs73106505	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9803687	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9803970	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1011849	chr1:216668381-216701163	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216672200-216675800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:216672200-216699600	Weak transcription	Gastric	stomach
3	chr1:216672800-216675800	Weak transcription	Stomach Mucosa	stomach
4	chr1:216673200-216704600	Weak transcription	Pancreas	Pancrea
5	chr1:216674200-216681800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:216674400-216675800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:216674400-216675800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:216674600-216675800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:216674600-216702000	Weak transcription	Fetal Intestine Small	intestine
10	chr1:216674800-216675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:216674800-216676000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:216675000-216676200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:216675400-216676400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:216675400-216676400	Enhancers	Fetal Brain Male	brain
15	chr1:216675600-216676800	Enhancers	Fetal Heart	heart

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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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