Variant report

Variant	rs2027476
Chromosome Location	chr1:119821789-119821790
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:119766957..119768551-chr1:119820452..119822824,2	MCF-7	breast:
2	chr1:119681572..119685482-chr1:119819762..119823351,4	MCF-7	breast:
3	chr1:119820968..119823082-chr1:119910916..119913003,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116882	Chromatin interaction
ENSG00000231365	Chromatin interaction
ENSG00000230921	Chromatin interaction
ENSG00000116874	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1341804	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1539187	1.00[YRI][hapmap]
rs1935247	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4480401	1.00[AMR][1000 genomes]
rs4659156	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428808	1.00[AMR][1000 genomes]
rs6428810	1.00[AMR][1000 genomes]
rs6428813	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv831192	chr1:119671172-119843226	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv917091	chr1:119688975-120023222	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv34089	chr1:119752112-120072961	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119819200-119835200	Weak transcription	Liver	Liver
2	chr1:119819400-119822600	Weak transcription	Adipose Nuclei	Adipose
3	chr1:119819600-119822000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:119820600-119823600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:119820600-119823600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:119821000-119823800	Enhancers	HMEC	breast
7	chr1:119821200-119822000	Enhancers	A549	lung
8	chr1:119821200-119823400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:119821400-119822200	Enhancers	Hela-S3	cervix
10	chr1:119821400-119822600	Enhancers	NHEK	skin
11	chr1:119821400-119824000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:119821600-119822400	Enhancers	HepG2	liver
13	chr1:119821600-119822600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:119821600-119822800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:119821600-119823200	Enhancers	HUVEC	blood vessel
16	chr1:119821600-119823200	Enhancers	Osteobl	bone
17	chr1:119821600-119823400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:119821600-119823400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:119821600-119823400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:119821600-119823400	Enhancers	HSMM	muscle
21	chr1:119821600-119823400	Enhancers	NH-A	brain
22	chr1:119821600-119824200	Enhancers	NHDF-Ad	bronchial

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