Variant report

Variant	rs10841507
Chromosome Location	chr12:20552827-20552828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743368	0.93[YRI][hapmap]
rs10770649	0.83[AMR][1000 genomes]
rs10770650	1.00[AMR][1000 genomes]
rs10770652	0.81[YRI][hapmap];0.83[AMR][1000 genomes]
rs10770656	1.00[AMR][1000 genomes]
rs10841509	0.83[AMR][1000 genomes]
rs10841510	0.83[AMR][1000 genomes]
rs10841513	0.83[AMR][1000 genomes]
rs11045218	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11045220	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11045221	0.83[AMR][1000 genomes]
rs11045222	0.83[AMR][1000 genomes]
rs11045223	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1530446	0.83[YRI][hapmap]
rs57818090	1.00[AMR][1000 genomes]
rs58810783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60977432	0.92[AFR][1000 genomes];0.83[AMR][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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
2	chr12:20542600-20566200	Weak transcription	Aorta	Aorta
3	chr12:20544000-20556000	Weak transcription	Osteobl	bone
4	chr12:20544800-20555800	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20548200-20556000	Weak transcription	Fetal Intestine Large	intestine
6	chr12:20549000-20553200	Weak transcription	Fetal Intestine Small	intestine
7	chr12:20549000-20555000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:20549400-20555600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:20549400-20557800	Weak transcription	Right Ventricle	heart
10	chr12:20550400-20568200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr12:20551600-20556200	Weak transcription	HUVEC	blood vessel
12	chr12:20551800-20553000	Genic enhancers	Hela-S3	cervix
13	chr12:20552000-20555800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:20552200-20553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:20552400-20553000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr12:20552400-20553800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:20552400-20555600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:20552800-20553200	Enhancers	Fetal Heart	heart

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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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