Variant report

Variant	rs11045259
Chromosome Location	chr12:20611024-20611025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10841528	0.86[AMR][1000 genomes]
rs11045253	0.82[EUR][1000 genomes]
rs11045256	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11045257	0.92[CEU][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11045260	1.00[JPT][hapmap]
rs12184495	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12815826	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4130514	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6487091	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7302508	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7484431	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7978217	0.87[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	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20605000-20613000	Weak transcription	Aorta	Aorta
5	chr12:20605800-20611400	Weak transcription	Small Intestine	intestine
6	chr12:20606000-20612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:20606000-20616600	Weak transcription	A549	lung
8	chr12:20606400-20612800	Weak transcription	Left Ventricle	heart
9	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
10	chr12:20608800-20613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:20609000-20618800	Weak transcription	Osteobl	bone
12	chr12:20609000-20619000	Weak transcription	NHDF-Ad	bronchial
13	chr12:20609200-20612800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:20609800-20611400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:20610000-20611400	Weak transcription	Fetal Intestine Small	intestine
16	chr12:20610400-20611200	Weak transcription	Fetal Intestine Large	intestine
17	chr12:20610600-20612000	Strong transcription	Hela-S3	cervix

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dbSNP/dbVar ID: rs12345 /nsv7879
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