Variant report

Variant	rs11045279
Chromosome Location	chr12:20636382-20636383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10841550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10841551	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11045256	0.84[TSI][hapmap];0.83[EUR][1000 genomes]
rs11045257	0.84[EUR][1000 genomes]
rs12184495	0.83[EUR][1000 genomes]
rs12372360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12815826	0.83[EUR][1000 genomes]
rs4130514	0.83[EUR][1000 genomes]
rs7302508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7484431	0.84[EUR][1000 genomes]
rs7978217	0.94[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv557701	chr12:20614024-20643574	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
2	chr12:20619200-20654200	Weak transcription	Fetal Stomach	stomach
3	chr12:20628600-20644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20628800-20636800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:20629200-20640200	Weak transcription	NHLF	lung
6	chr12:20630800-20639200	Weak transcription	Right Atrium	heart
7	chr12:20631600-20637200	Weak transcription	Fetal Lung	lung
8	chr12:20631600-20640200	Weak transcription	Aorta	Aorta
9	chr12:20632800-20647200	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:20634800-20636600	Weak transcription	Osteobl	bone
11	chr12:20635200-20637400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:20635200-20641000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:20635200-20641400	Enhancers	NHDF-Ad	bronchial
14	chr12:20635400-20637200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:20635600-20637200	Enhancers	A549	lung
16	chr12:20635800-20641000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:20636000-20636400	Strong transcription	Fetal Intestine Small	intestine
18	chr12:20636000-20636400	Enhancers	Left Ventricle	heart
19	chr12:20636200-20638800	Weak transcription	Hela-S3	cervix

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links