Variant report

Variant	rs2817862
Chromosome Location	chr1:71497581-71497582
allele	A/G
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	chr1:71496393..71498256-chr1:71498283..71500475,2	K562	blood:
3	chr1:71497365..71498885-chr1:71507254..71510170,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17090676	1.00[AMR][1000 genomes]
rs2567416	1.00[AMR][1000 genomes]
rs2639342	1.00[AMR][1000 genomes]
rs2744910	1.00[AMR][1000 genomes]
rs2744912	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2744913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2744917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2796191	1.00[AMR][1000 genomes]
rs2796193	1.00[AMR][1000 genomes]
rs2796194	1.00[AMR][1000 genomes]
rs2796205	1.00[AMR][1000 genomes]
rs2817856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2817863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146734	1.00[AMR][1000 genomes]
rs5689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6424416	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6424417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661368	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667630	1.00[AMR][1000 genomes]
rs7539573	1.00[AMR][1000 genomes]
rs9425056	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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:11 , 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	chr1:71495800-71497600	Enhancers	Aorta	Aorta
4	chr1:71495800-71498600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:71495800-71499000	Enhancers	NHDF-Ad	bronchial
6	chr1:71496000-71498400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:71496000-71506200	Weak transcription	Fetal Stomach	stomach
8	chr1:71496200-71498000	Enhancers	Rectal Smooth Muscle	rectum
9	chr1:71497000-71497600	Enhancers	Osteobl	bone
10	chr1:71497000-71497800	Enhancers	Colon Smooth Muscle	Colon
11	chr1:71497200-71498000	Enhancers	Adipose Nuclei	Adipose

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