Variant report

Variant	rs2300177
Chromosome Location	chr1:71498362-71498363
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71493469..71495950-chr1:71496070..71500224,3	K562	blood:
2	chr1:71498308..71501736-chr1:71503473..71506751,3	K562	blood:
3	chr1:71496393..71498256-chr1:71498283..71500475,2	K562	blood:
4	chr1:71497365..71498885-chr1:71507254..71510170,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11209732	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11209742	0.94[ASN][1000 genomes]
rs12035634	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12037493	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12039343	0.85[EUR][1000 genomes]
rs12405304	0.85[AMR][1000 genomes]
rs12405786	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12409424	0.88[AMR][1000 genomes]
rs1409164	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs17090778	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17090979	0.85[AMR][1000 genomes]
rs1883460	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2206343	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2256385	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2268052	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2284361	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2284363	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2300162	0.81[ASN][1000 genomes]
rs2300165	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2300168	0.93[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2300176	0.92[ASN][1000 genomes]
rs35316490	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3819787	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4649933	0.92[ASN][1000 genomes]
rs4649934	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs484538	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs5024204	0.99[ASN][1000 genomes]
rs55669216	0.85[EUR][1000 genomes]
rs55754123	0.80[AMR][1000 genomes]
rs5675	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.96[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs570021	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs6424414	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs646511	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs646621	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs66539808	0.99[ASN][1000 genomes]
rs6678886	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66904764	0.97[ASN][1000 genomes]
rs6691401	0.84[ASN][1000 genomes]
rs6694001	0.80[ASN][1000 genomes]
rs6698339	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72672976	0.85[AMR][1000 genomes]
rs7531139	1.00[ASW][hapmap];0.85[CEU][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7534885	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7537324	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7551958	0.85[AMR][1000 genomes]
rs909848	0.82[CHB][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
3	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
4	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71481800-71501000	Weak transcription	K562	blood
2	chr1:71492800-71504400	Weak transcription	Gastric	stomach
3	chr1:71495800-71498600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:71495800-71499000	Enhancers	NHDF-Ad	bronchial
5	chr1:71496000-71498400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71496000-71506200	Weak transcription	Fetal Stomach	stomach
7	chr1:71497600-71510600	Weak transcription	Aorta	Aorta
8	chr1:71498000-71502600	Weak transcription	Adipose Nuclei	Adipose
9	chr1:71498000-71502800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:71498200-71499000	Enhancers	Colon Smooth Muscle	Colon

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