Variant report

Variant	rs1833036
Chromosome Location	chr1:216707012-216707013
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:216705301..216708105-chr1:216716452..216719098,3	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10442683	0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10442688	0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs10495027	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.87[ASN][1000 genomes]
rs10495029	0.80[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.85[ASN][1000 genomes]
rs10863250	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs11117612	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.87[ASN][1000 genomes]
rs11117613	0.90[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs12067809	0.87[ASN][1000 genomes]
rs12130540	0.89[ASN][1000 genomes]
rs12137616	0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs12145418	0.84[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.90[ASN][1000 genomes]
rs12757165	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.90[ASN][1000 genomes]
rs1566223	0.88[ASN][1000 genomes]
rs17611421	0.80[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs17667808	0.87[ASN][1000 genomes]
rs1846223	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2377098	0.90[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs3929399	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.88[ASN][1000 genomes]
rs4147269	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.88[ASN][1000 genomes]
rs4147270	0.89[ASN][1000 genomes]
rs4147271	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.88[ASN][1000 genomes]
rs4294475	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs4462218	0.88[ASN][1000 genomes]
rs4846520	0.90[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs4846521	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4846524	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs4846525	0.87[ASN][1000 genomes]
rs6604634	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6604635	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs6658528	0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6658786	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6673295	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6673524	0.90[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs6676984	0.95[ASN][1000 genomes]
rs6696225	0.90[CHB][hapmap];0.92[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7534782	0.84[JPT][hapmap]
rs7544765	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][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	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1008939	chr1:216688284-216712570	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1833036	CENPF	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216705000-216714400	Weak transcription	Gastric	stomach
2	chr1:216705400-216707200	Weak transcription	Fetal Heart	heart
3	chr1:216705400-216708000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:216705400-216708200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:216705400-216721000	Weak transcription	Pancreas	Pancrea
6	chr1:216705400-216734800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:216705600-216711800	Weak transcription	Right Atrium	heart
8	chr1:216705800-216707400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:216705800-216708000	Weak transcription	Left Ventricle	heart
10	chr1:216705800-216708600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:216706000-216707200	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:216706000-216709200	Weak transcription	Psoas Muscle	Psoas

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