Variant report

Variant	rs55698241
Chromosome Location	chr12:117952532-117952533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11068511	0.90[EUR][1000 genomes]
rs11068512	0.90[EUR][1000 genomes]
rs11068513	0.90[EUR][1000 genomes]
rs11068514	0.90[EUR][1000 genomes]
rs11068515	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11068523	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296893	0.90[EUR][1000 genomes]
rs12298118	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12298168	0.90[EUR][1000 genomes]
rs12302548	0.90[EUR][1000 genomes]
rs12306876	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12316783	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12319092	0.83[EUR][1000 genomes]
rs16947636	0.90[EUR][1000 genomes]
rs16947644	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16947663	1.00[ASN][1000 genomes]
rs55974696	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56005605	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56064940	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59673657	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61573358	0.81[ASN][1000 genomes]
rs7304665	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73401447	0.85[EUR][1000 genomes]
rs7976291	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1045538	chr12:117929400-117963331	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117940200-117978600	Weak transcription	Brain Anterior Caudate	brain
2	chr12:117950000-117953400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:117950800-117953000	Enhancers	Fetal Brain Male	brain
4	chr12:117951200-117952600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:117951200-117952600	Enhancers	Brain Cingulate Gyrus	brain
6	chr12:117951200-117952800	Enhancers	Left Ventricle	heart
7	chr12:117951200-117953000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:117951200-117953000	Enhancers	Brain Germinal Matrix	brain
9	chr12:117951200-117953000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:117951200-117953200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:117951400-117952600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:117951400-117953000	Enhancers	Brain Angular Gyrus	brain
13	chr12:117951400-117953200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:117951600-117952600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr12:117951600-117956400	Weak transcription	Right Atrium	heart
16	chr12:117951600-117956600	Weak transcription	Gastric	stomach
17	chr12:117952000-117952800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:117952000-117952800	Enhancers	Liver	Liver
19	chr12:117952000-117956600	Weak transcription	Psoas Muscle	Psoas
20	chr12:117952200-117952600	Weak transcription	Fetal Brain Female	brain
21	chr12:117952200-117952800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:117952200-117956600	Weak transcription	Pancreas	Pancrea
23	chr12:117952400-117952800	Enhancers	Lung	lung

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