Variant report

Variant	rs551786
Chromosome Location	chr1:85938147-85938148
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	chr1:85929647..85931908-chr1:85937846..85939835,2	MCF-7	breast:
2	chr1:85930255..85933198-chr1:85937811..85940494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000273264	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12021849	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12022443	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12022538	0.92[EUR][1000 genomes]
rs12023795	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12024508	0.92[EUR][1000 genomes]
rs12029684	0.84[EUR][1000 genomes]
rs12033315	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034206	0.84[EUR][1000 genomes]
rs12038279	0.92[EUR][1000 genomes]
rs12043604	0.84[EUR][1000 genomes]
rs12047139	0.92[EUR][1000 genomes]
rs12049582	0.92[EUR][1000 genomes]
rs1851782	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28847138	0.84[EUR][1000 genomes]
rs485987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61164145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85931200-85941600	Weak transcription	Aorta	Aorta
2	chr1:85931200-85942200	Weak transcription	Esophagus	oesophagus
3	chr1:85931800-85938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:85931800-85938800	Weak transcription	HSMMtube	muscle
5	chr1:85931800-85942400	Weak transcription	NHLF	lung
6	chr1:85931800-85956000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:85931800-85960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:85932000-85939400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:85932000-85961400	Weak transcription	Fetal Stomach	stomach
10	chr1:85932200-85945400	Weak transcription	HUVEC	blood vessel
11	chr1:85933000-85943200	Strong transcription	HSMM	muscle
12	chr1:85933600-85939200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85933600-85943400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:85933800-85950200	Weak transcription	NHDF-Ad	bronchial
15	chr1:85934000-85950000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85936400-85939400	Strong transcription	Osteobl	bone
17	chr1:85936800-85939600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:85937200-85940200	Weak transcription	NH-A	brain
19	chr1:85937400-85938200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:85937400-85939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:85937800-85940000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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