Variant report

Variant	rs11045209
Chromosome Location	chr12:20547182-20547183
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10743371	0.94[ASN][1000 genomes]
rs10841500	0.96[CEU][hapmap]
rs10841503	0.95[ASN][1000 genomes]
rs10841504	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs10841505	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11045205	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11045210	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12299821	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs12300264	0.89[CEU][hapmap]
rs1444639	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs1899908	0.87[CHB][hapmap]
rs34151895	0.85[EUR][1000 genomes]
rs34256056	0.85[EUR][1000 genomes]
rs4326884	0.92[CEU][hapmap]

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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20550400	Weak transcription	HUVEC	blood vessel
2	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
3	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
4	chr12:20543000-20549200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20543000-20551000	Weak transcription	A549	lung
6	chr12:20544000-20547800	Weak transcription	Fetal Heart	heart
7	chr12:20544000-20556000	Weak transcription	Osteobl	bone
8	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:20546000-20549200	Weak transcription	Right Ventricle	heart
10	chr12:20546200-20548200	Strong transcription	Hela-S3	cervix
11	chr12:20546400-20548200	Enhancers	Fetal Intestine Large	intestine
12	chr12:20546600-20547200	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:20546600-20548400	Enhancers	Fetal Intestine Small	intestine
14	chr12:20546800-20547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr12:20546800-20547400	Enhancers	Fetal Kidney	kidney
16	chr12:20546800-20548200	Enhancers	Rectal Mucosa Donor 29	rectum

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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

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