Variant report

Variant	rs11045253
Chromosome Location	chr12:20602849-20602850
allele	A/G
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:10)

rs_ID	r²[population]
rs10841529	0.81[AMR][1000 genomes]
rs11045256	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11045257	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11045259	0.82[EUR][1000 genomes]
rs12184495	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12815826	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4130514	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7302508	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7484431	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978217	0.86[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20589400-20603000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20592800-20603600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:20598200-20603400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:20599000-20603400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:20599000-20609600	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:20599800-20604000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:20600000-20604800	Weak transcription	Fetal Heart	heart
10	chr12:20600800-20603800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:20600800-20604200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:20601000-20606800	Weak transcription	Right Ventricle	heart
13	chr12:20601400-20603200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:20601400-20603200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:20601800-20604000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr12:20602000-20603000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:20602000-20605800	Enhancers	Osteobl	bone
18	chr12:20602000-20607600	Weak transcription	Fetal Kidney	kidney
19	chr12:20602000-20609000	Enhancers	Fetal Intestine Large	intestine
20	chr12:20602200-20603800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:20602400-20603000	Enhancers	Aorta	Aorta
22	chr12:20602400-20603200	Enhancers	Left Ventricle	heart
23	chr12:20602400-20604200	Enhancers	NHDF-Ad	bronchial
24	chr12:20602800-20603800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:20602800-20604800	Strong transcription	Hela-S3	cervix
26	chr12:20602800-20605000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr12:20602800-20610000	Enhancers	Fetal Intestine Small	intestine

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