Variant report

Variant	rs4655640
Chromosome Location	chr1:67089220-67089221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:67089208-67091520	SK-N-SH	brain:	n/a	chr1:67089659-67089668 chr1:67090268-67090277

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67088339..67090517-chr1:67091923..67094068,2	K562	blood:

Variant related genes	Relation type
MIR3117	TF binding region
SGIP1	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10749763	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10789210	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10889634	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10889635	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10889641	0.80[AMR][1000 genomes]
rs11208932	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1325261	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1325263	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1329978	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1373911	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1445575	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1536115	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1562217	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1856318	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2031478	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2044400	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2147777	0.80[EUR][1000 genomes]
rs2872078	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4655628	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4655631	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4655633	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4655635	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4655636	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4655646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4655647	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4655648	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6588207	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6656550	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6656912	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6659968	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6670378	0.82[EUR][1000 genomes]
rs6680944	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6681460	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6689864	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6696927	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6697088	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7521111	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7521123	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7524818	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7524851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7532173	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs964574	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9659879	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9662943	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9662962	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs996123	0.85[AMR][1000 genomes];0.86[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	nsv1221	chr1:67047908-67092696	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 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	chr1:67058000-67092200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:67066400-67089600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:67071600-67094800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:67082000-67089400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:67084200-67099800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:67084600-67089400	Weak transcription	NHLF	lung
7	chr1:67085600-67089400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:67086400-67089600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:67086600-67089400	Weak transcription	Brain Substantia Nigra	brain
10	chr1:67087600-67090400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:67088400-67091000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:67088400-67114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:67088800-67091200	Enhancers	NHDF-Ad	bronchial
14	chr1:67089000-67089600	Enhancers	Aorta	Aorta
15	chr1:67089000-67090000	Enhancers	HUVEC	blood vessel
16	chr1:67089200-67089600	Enhancers	NH-A	brain
17	chr1:67089200-67091200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:67089200-67091200	Enhancers	Osteobl	bone
19	chr1:67089200-67091600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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