Variant report

Variant	rs17518077
Chromosome Location	chr1:223466270-223466271
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	chr1:223466163..223468186-chr1:223469482..223472172,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1400961	0.89[EUR][1000 genomes]
rs1400963	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418150	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1418152	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1418153	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1640846	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1640849	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17161988	0.90[EUR][1000 genomes]
rs17163765	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17479856	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17517952	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17538964	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17576822	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17577025	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17577212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773710	0.81[EUR][1000 genomes]
rs1773713	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1829310	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28561511	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820596	0.89[EUR][1000 genomes]
rs61837627	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61837629	0.84[EUR][1000 genomes]
rs61837630	0.84[EUR][1000 genomes]
rs61837633	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61837634	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61837635	0.89[EUR][1000 genomes]
rs61837636	0.83[EUR][1000 genomes]
rs61837638	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61837640	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61838191	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838192	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838194	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838197	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838199	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838200	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61838201	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712858	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73122234	0.90[EUR][1000 genomes]
rs7412060	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74145795	0.84[EUR][1000 genomes]
rs7518292	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885279	0.89[EUR][1000 genomes]
rs9442043	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1000039	chr1:223429733-223527845	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223443800-223472600	Weak transcription	Gastric	stomach
2	chr1:223459000-223474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:223460800-223473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:223461200-223469600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr1:223464400-223466800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:223464400-223472800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:223465600-223466400	Strong transcription	Ovary	ovary
8	chr1:223465600-223467200	Strong transcription	Primary T cells from cord blood	blood
9	chr1:223465800-223469600	Weak transcription	Esophagus	oesophagus

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