Variant report

Variant	rs11572721
Chromosome Location	chr1:216803755-216803756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11572623	1.00[AMR][1000 genomes]
rs11572665	1.00[AMR][1000 genomes]
rs11572725	1.00[AMR][1000 genomes]
rs11809096	1.00[AMR][1000 genomes]
rs1416610	1.00[AMR][1000 genomes]
rs17042543	1.00[AMR][1000 genomes]
rs17043114	1.00[AMR][1000 genomes]
rs17043326	1.00[AMR][1000 genomes]
rs17043741	1.00[AMR][1000 genomes]
rs17043745	1.00[AMR][1000 genomes]
rs951292	1.00[AMR][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	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216775200-216835400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:216787400-216853800	Weak transcription	Pancreas	Pancrea
3	chr1:216792400-216809000	Weak transcription	Gastric	stomach
4	chr1:216800000-216806600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:216800000-216826200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:216800200-216826600	Weak transcription	Left Ventricle	heart
7	chr1:216803000-216804800	Enhancers	Brain Germinal Matrix	brain
8	chr1:216803000-216805600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:216803200-216804800	Enhancers	Fetal Heart	heart
10	chr1:216803400-216804200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:216803400-216804600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:216803600-216804000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:216803600-216804400	Enhancers	Fetal Brain Male	brain
14	chr1:216803600-216804600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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