Variant report

Variant	rs473791
Chromosome Location	chr11:75427984-75427985
allele	A/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:13)

rs_ID	r²[population]
rs10793123	0.81[EUR][1000 genomes]
rs10899102	0.88[EUR][1000 genomes]
rs1145700	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1219536	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs1219537	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1219538	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1219539	0.87[EUR][1000 genomes]
rs1238914	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs473013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945025	0.86[JPT][hapmap]
rs554202	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs623693	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs650861	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr11:75424000-75428200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr11:75426600-75428600	Enhancers	Fetal Intestine Small	intestine
3	chr11:75427000-75428400	Enhancers	Duodenum Mucosa	Duodenum
4	chr11:75427200-75428200	Enhancers	Colonic Mucosa	Colon
5	chr11:75427200-75428600	Enhancers	Fetal Intestine Large	intestine
6	chr11:75427200-75428600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr11:75427200-75429400	Enhancers	HepG2	liver
8	chr11:75427600-75428000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:75427600-75428400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr11:75427600-75428600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr11:75427600-75429000	Enhancers	ES-UCSF4 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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