Variant report

Variant	rs1576423
Chromosome Location	chr1:86054080-86054081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:86053466-86054136	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86051548..86054747-chr1:86058941..86061467,3	K562	blood:

Variant related genes	Relation type
ENSG00000199934	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12072027	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12239954	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1329961	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658857	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6673340	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9651137	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9803850	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][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	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr1:86048800-86081200	Weak transcription	Gastric	stomach
2	chr1:86049000-86068400	Weak transcription	Psoas Muscle	Psoas
3	chr1:86050600-86054800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:86051000-86062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:86051200-86054400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:86052200-86055000	Weak transcription	Osteobl	bone
7	chr1:86053200-86054200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:86053200-86054200	Enhancers	Left Ventricle	heart
9	chr1:86053200-86054400	Enhancers	Fetal Heart	heart
10	chr1:86053400-86054200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:86053400-86054200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:86053600-86054200	Enhancers	Fetal Brain Female	brain
13	chr1:86053600-86054200	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:86053600-86054200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:86053600-86054200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:86053600-86054200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:86053600-86054800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr1:86053600-86055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:86053800-86055000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:86053800-86064600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:86053800-86071400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:86054000-86057600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links