Variant report

Variant	rs2793800
Chromosome Location	chr1:179201622-179201623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:179198171..179200339-chr1:179200628..179202666,2	MCF-7	breast:
2	chr1:179050126..179052698-chr1:179201088..179202992,3	K562	blood:
3	chr1:179194698..179198189-chr1:179199454..179203395,4	K562	blood:

Variant related genes	Relation type
ENSG00000143322	Chromatin interaction
ENSG00000186283	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1763022	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1807916	0.82[ASN][1000 genomes]
rs1826183	0.83[ASN][1000 genomes]
rs2050923	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2066279	0.81[ASN][1000 genomes]
rs2130576	0.81[ASN][1000 genomes]
rs2171958	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2306941	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2487563	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2636265	0.81[ASN][1000 genomes]
rs2636272	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2636277	0.81[EUR][1000 genomes]
rs2636282	0.81[ASN][1000 genomes]
rs2791936	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2791945	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2793790	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2793794	0.80[EUR][1000 genomes]
rs2793801	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2793802	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2793803	0.82[ASN][1000 genomes]
rs2793810	0.83[ASN][1000 genomes]
rs2793813	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2816168	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2816184	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2816191	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2816201	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2816207	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2816208	0.81[ASN][1000 genomes]
rs2816211	0.81[ASN][1000 genomes]
rs2816212	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2816214	0.81[ASN][1000 genomes]
rs2816218	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3121198	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs413613	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9425839	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179199400-179210000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:179199600-179201800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:179199600-179203000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:179199800-179204600	Enhancers	Hela-S3	cervix
5	chr1:179200000-179201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:179200200-179202400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:179200200-179203000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:179200200-179203000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:179201200-179202200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr1:179201200-179202800	Enhancers	NH-A	brain
11	chr1:179201200-179203000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:179201200-179204400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:179201200-179204400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:179201200-179204600	Enhancers	HMEC	breast
15	chr1:179201200-179204600	Enhancers	NHEK	skin
16	chr1:179201400-179202000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:179201600-179202400	Enhancers	A549	lung
18	chr1:179201600-179202400	Weak transcription	HSMM	muscle
19	chr1:179201600-179202600	Weak transcription	HUVEC	blood vessel
20	chr1:179201600-179202600	Weak transcription	NHLF	lung
21	chr1:179201600-179203000	Weak transcription	NHDF-Ad	bronchial
22	chr1:179201600-179203000	Weak transcription	Osteobl	bone
23	chr1:179201600-179203600	Weak transcription	HepG2	liver
24	chr1:179201600-179203600	Weak transcription	K562	blood

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