Variant report

Variant	rs11997211
Chromosome Location	chr8:124761378-124761379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	1.00[EUR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs7813635	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124746800-124763600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr8:124756400-124761400	Weak transcription	NHEK	skin
3	chr8:124757400-124761600	Weak transcription	A549	lung
4	chr8:124757800-124764600	Weak transcription	Small Intestine	intestine
5	chr8:124759200-124763200	Enhancers	Fetal Intestine Large	intestine
6	chr8:124759400-124761800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:124759600-124764200	Enhancers	Fetal Intestine Small	intestine
8	chr8:124760200-124761800	Weak transcription	HepG2	liver
9	chr8:124760400-124766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:124760800-124763400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:124761000-124761400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:124761200-124761400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:124761200-124761800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:124761200-124762000	Enhancers	Fetal Kidney	kidney
15	chr8:124761200-124762400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124761200-124762800	Enhancers	Duodenum Mucosa	Duodenum

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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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