Variant report

Variant	rs592347
Chromosome Location	chr11:119969030-119969031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11217689	0.98[ASN][1000 genomes]
rs1628536	0.98[ASN][1000 genomes]
rs1629201	0.98[ASN][1000 genomes]
rs1629347	0.98[ASN][1000 genomes]
rs1670196	0.98[ASN][1000 genomes]
rs1670197	0.98[ASN][1000 genomes]
rs1670198	0.98[ASN][1000 genomes]
rs1787025	0.98[ASN][1000 genomes]
rs1787026	0.98[ASN][1000 genomes]
rs1790472	0.95[ASN][1000 genomes]
rs1790473	0.97[ASN][1000 genomes]
rs582340	0.98[ASN][1000 genomes]
rs582951	0.98[ASN][1000 genomes]
rs584653	0.98[ASN][1000 genomes]
rs590270	0.98[ASN][1000 genomes]
rs594081	0.98[ASN][1000 genomes]
rs600484	0.98[ASN][1000 genomes]
rs605230	0.98[ASN][1000 genomes]
rs610075	0.98[ASN][1000 genomes]
rs611656	0.98[ASN][1000 genomes]
rs617320	0.97[ASN][1000 genomes]
rs623353	0.98[ASN][1000 genomes]
rs624877	0.98[ASN][1000 genomes]
rs626302	0.98[ASN][1000 genomes]
rs632541	0.98[ASN][1000 genomes]
rs637464	0.98[ASN][1000 genomes]
rs637685	0.98[ASN][1000 genomes]
rs639775	0.98[ASN][1000 genomes]
rs654884	0.98[ASN][1000 genomes]
rs664579	0.98[ASN][1000 genomes]
rs665008	0.98[ASN][1000 genomes]
rs683743	0.98[ASN][1000 genomes]
rs688050	0.98[ASN][1000 genomes]
rs688051	0.98[ASN][1000 genomes]
rs694639	0.98[ASN][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119965800-119970400	Enhancers	Fetal Intestine Large	intestine
2	chr11:119966400-119970000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:119966600-119970000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119966800-119978200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:119967000-119969200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr11:119967000-119969200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:119967800-119970400	Enhancers	Fetal Intestine Small	intestine
8	chr11:119968000-119969200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr11:119968000-119969200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr11:119968600-119969200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:119968800-119969400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:119969000-119969200	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:119969000-119973400	Weak transcription	H1 Derived Neuronal Progenitor 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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