Variant report

Variant	rs55913306
Chromosome Location	chr1:9589193-9589194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9588042..9590457-chr1:9592247..9594686,2	K562	blood:
2	chr1:9587530..9590240-chr1:9598858..9600844,2	MCF-7	breast:
3	chr1:9581356..9583621-chr1:9587522..9590358,2	K562	blood:
4	chr1:9585423..9586944-chr1:9587293..9590310,3	K562	blood:
5	chr1:9587010..9589286-chr1:9599460..9602701,3	K562	blood:
6	chr1:9588957..9591794-chr1:9592247..9595158,3	K562	blood:

Variant related genes	Relation type
ENSG00000171612	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10159413	1.00[AMR][1000 genomes]
rs11121428	1.00[EUR][1000 genomes]
rs11811820	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066330	1.00[EUR][1000 genomes]
rs56133240	1.00[EUR][1000 genomes]
rs56133747	1.00[AMR][1000 genomes]
rs57585081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60678622	1.00[EUR][1000 genomes]
rs61547143	1.00[EUR][1000 genomes]
rs6701659	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72862732	1.00[EUR][1000 genomes]
rs72862734	1.00[EUR][1000 genomes]
rs7354926	1.00[EUR][1000 genomes]
rs74051506	1.00[AMR][1000 genomes]
rs74051508	1.00[AMR][1000 genomes]
rs74051509	1.00[AMR][1000 genomes]
rs74051510	1.00[AMR][1000 genomes]
rs74051513	1.00[AMR][1000 genomes]
rs74051531	1.00[EUR][1000 genomes]
rs74051533	1.00[EUR][1000 genomes]
rs74051540	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74051544	1.00[EUR][1000 genomes]
rs74051551	1.00[AMR][1000 genomes]
rs74051552	1.00[AMR][1000 genomes]
rs74051646	1.00[EUR][1000 genomes]
rs74051648	1.00[EUR][1000 genomes]
rs74051651	1.00[EUR][1000 genomes]
rs74051652	1.00[EUR][1000 genomes]
rs9662928	1.00[EUR][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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3451759	chr1:9566735-9590683	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9555800-9599400	Weak transcription	Right Atrium	heart
2	chr1:9579000-9590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:9585200-9592600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:9587000-9589400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:9587200-9589200	Weak transcription	HepG2	liver
6	chr1:9587200-9589400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:9587200-9598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:9589000-9589200	Enhancers	GM12878-XiMat	blood
9	chr1:9589000-9589600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:9589000-9589600	Enhancers	K562	blood
11	chr1:9589000-9589600	Enhancers	Osteobl	bone
12	chr1:9589000-9589800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:9589000-9589800	Enhancers	Brain Anterior Caudate	brain
14	chr1:9589000-9590000	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:9589000-9590400	Enhancers	Brain Angular Gyrus	brain

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