Variant report

Variant	rs894593
Chromosome Location	chr17:66816527-66816528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66808054..66811042-chr17:66815866..66818225,2	MCF-7	breast:
2	chr17:66808533..66810777-chr17:66816260..66818804,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1373066	0.92[AMR][1000 genomes]
rs1443259	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1443261	0.89[AMR][1000 genomes]
rs1443262	0.94[AMR][1000 genomes]
rs1443263	0.87[EUR][1000 genomes]
rs1470292	0.92[AMR][1000 genomes]
rs1470293	0.92[AMR][1000 genomes]
rs1470294	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550646	0.96[EUR][1000 genomes]
rs1808919	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1838100	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1838101	0.94[AMR][1000 genomes]
rs1867235	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1899576	0.89[EUR][1000 genomes]
rs1978962	0.93[EUR][1000 genomes]
rs2218350	0.92[AMR][1000 genomes]
rs4246431	0.89[AMR][1000 genomes]
rs4556855	0.97[EUR][1000 genomes]
rs4968826	0.86[AMR][1000 genomes]
rs4968962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6501766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6501767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6501768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6501799	0.84[EUR][1000 genomes]
rs6501813	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs6501835	0.92[AMR][1000 genomes]
rs6501839	0.92[AMR][1000 genomes]
rs7209220	0.81[AMR][1000 genomes]
rs7210022	0.81[AMR][1000 genomes]
rs7211979	0.83[AMR][1000 genomes]
rs8068204	0.81[AMR][1000 genomes]
rs8074944	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8078168	0.92[EUR][1000 genomes]
rs8080098	0.92[AMR][1000 genomes]
rs8082619	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs894594	0.92[AMR][1000 genomes]
rs980423	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9895868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv908694	chr17:66802992-66913936	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66806000-66817200	Weak transcription	Ovary	ovary
2	chr17:66809800-66817000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr17:66811800-66817000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:66812200-66817200	Weak transcription	Right Atrium	heart
5	chr17:66814400-66817200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr17:66814600-66817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:66814600-66817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:66814800-66816600	Enhancers	Brain Cingulate Gyrus	brain
9	chr17:66814800-66817600	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr17:66814800-66818600	Enhancers	Liver	Liver
11	chr17:66815000-66817200	Weak transcription	NHDF-Ad	bronchial
12	chr17:66815000-66817600	Weak transcription	Fetal Lung	lung
13	chr17:66815000-66817800	Weak transcription	Adipose Nuclei	Adipose
14	chr17:66815200-66816800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:66815400-66817000	Enhancers	Brain Anterior Caudate	brain
16	chr17:66815800-66818000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:66816000-66817000	Weak transcription	Brain Angular Gyrus	brain
18	chr17:66816000-66817200	Weak transcription	Fetal Muscle Leg	muscle
19	chr17:66816000-66818600	Enhancers	Brain Hippocampus Middle	brain
20	chr17:66816200-66816600	Weak transcription	Brain Substantia Nigra	brain
21	chr17:66816200-66816600	Flanking Active TSS	HepG2	liver

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