Variant report

Variant	rs59337218
Chromosome Location	chr5:108426748-108426749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:108425184..108427337-chr5:108429804..108432211,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10040959	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10056058	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10063845	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10070411	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073414	0.85[AFR][1000 genomes]
rs10085093	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477440	0.83[EUR][1000 genomes]
rs10477944	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10477945	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10477946	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477947	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477948	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477949	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10477952	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11746665	0.85[EUR][1000 genomes]
rs17450387	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17450455	0.84[EUR][1000 genomes]
rs17473391	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17534626	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2195944	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2217649	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2416198	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2416200	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28699553	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4957567	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4957798	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4957799	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55930293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55953478	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56227556	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs57196331	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57960033	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6872780	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73779027	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73779047	0.83[EUR][1000 genomes]
rs73779050	0.83[EUR][1000 genomes]
rs73779051	0.82[EUR][1000 genomes]
rs73779130	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73779135	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9326759	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9326760	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9326762	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][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	nsv830443	chr5:108326491-108496723	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv882692	chr5:108391660-108474166	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv882693	chr5:108391660-108502493	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv882694	chr5:108391660-108524416	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv969193	chr5:108410957-108429737	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108410400-108441200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:108416400-108441200	Weak transcription	HSMM	muscle
3	chr5:108417200-108428400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr5:108418400-108427200	Weak transcription	Esophagus	oesophagus
5	chr5:108422200-108434400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:108422800-108444800	Weak transcription	Left Ventricle	heart
7	chr5:108423800-108428000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:108424000-108431400	Weak transcription	NHEK	skin
9	chr5:108424600-108426800	Weak transcription	Lung	lung
10	chr5:108424800-108426800	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:108425000-108427600	Weak transcription	Primary T cells from cord blood	blood
12	chr5:108425200-108426800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:108425200-108427400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr5:108425800-108427200	Weak transcription	Gastric	stomach
15	chr5:108426000-108427000	Weak transcription	Pancreas	Pancrea
16	chr5:108426000-108429000	Weak transcription	Fetal Intestine Small	intestine
17	chr5:108426000-108441400	Weak transcription	Aorta	Aorta
18	chr5:108426600-108427400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:108426600-108427600	Strong transcription	Fetal Stomach	stomach

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