Variant report

Variant	rs585355
Chromosome Location	chr1:179900644-179900645
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179899957..179900671-chr1:180137065..180137612,2	MCF-7	breast:
2	chr1:179894610..179897527-chr1:179897909..179900887,3	MCF-7	breast:
3	chr1:179899158..179900985-chr1:184603757..184605765,2	MCF-7	breast:
4	chr1:179893782..179897328-chr1:179897862..179901956,4	MCF-7	breast:
5	chr1:179889909..179891977-chr1:179899561..179901875,2	K562	blood:
6	chr1:179899316..179902029-chr1:179921457..179922978,2	MCF-7	breast:
7	chr1:179898573..179901417-chr1:179902522..179905124,2	MCF-7	breast:
8	chr1:179899680..179902372-chr1:179905754..179907325,2	K562	blood:
9	chr1:179898424..179901062-chr1:179905240..179907123,2	MCF-7	breast:
10	chr1:179899505..179902382-chr1:179923017..179925632,3	MCF-7	breast:
11	chr1:179850492..179853577-chr1:179898721..179902201,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143337	Chromatin interaction
ENSG00000272906	Chromatin interaction
ENSG00000135837	Chromatin interaction
ENSG00000260360	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10913916	0.86[JPT][hapmap]
rs10913918	0.82[CHD][hapmap];0.80[JPT][hapmap]
rs1281384	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1281386	0.88[ASN][1000 genomes]
rs1281389	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs1297205	0.86[JPT][hapmap]
rs2281805	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs2319676	0.83[JPT][hapmap]
rs2477106	0.80[JPT][hapmap]
rs2477119	0.86[JPT][hapmap]
rs2483622	0.80[JPT][hapmap]
rs2501608	0.80[JPT][hapmap]
rs2501615	0.81[JPT][hapmap]
rs2501621	0.80[JPT][hapmap]
rs2777910	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2985373	0.91[ASN][1000 genomes]
rs500371	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs504202	0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs507603	0.85[CEU][hapmap]
rs511332	0.86[ASN][1000 genomes]
rs521858	0.88[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs524166	0.85[YRI][hapmap]
rs526683	1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[ASN][1000 genomes]
rs528350	0.86[JPT][hapmap]
rs533795	0.88[CHB][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs534168	0.86[JPT][hapmap]
rs539181	0.85[CEU][hapmap]
rs551607	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs552743	0.87[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs561233	0.88[CHB][hapmap];0.89[CHD][hapmap];0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs576723	0.85[YRI][hapmap]
rs598098	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs627897	0.86[LWK][hapmap];0.85[YRI][hapmap]
rs6425606	0.85[CHD][hapmap]
rs7521895	0.93[JPT][hapmap]

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	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv429947	chr1:179790518-179925104	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv1815608	chr1:179813499-180067988	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv429958	chr1:179814306-179994628	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS 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 target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179887400-179901600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:179898600-179902200	Enhancers	Fetal Intestine Large	intestine
3	chr1:179899200-179901400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:179899400-179900800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:179899400-179901200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:179899400-179901200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:179899600-179901400	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:179899600-179905000	Weak transcription	GM12878-XiMat	blood
9	chr1:179899800-179901000	Weak transcription	Small Intestine	intestine
10	chr1:179899800-179902200	Enhancers	Hela-S3	cervix
11	chr1:179900200-179900800	Enhancers	NHEK	skin
12	chr1:179900600-179900800	Enhancers	Placenta	Placenta
13	chr1:179900600-179901200	Enhancers	Adipose Nuclei	Adipose
14	chr1:179900600-179901200	Enhancers	Fetal Intestine Small	intestine
15	chr1:179900600-179901400	Enhancers	Ovary	ovary
16	chr1:179900600-179902000	Enhancers	Stomach Mucosa	stomach

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