Variant report

Variant	rs10912501
Chromosome Location	chr1:172921727-172921728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172913673..172916975-chr1:172918949..172922757,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10489274	0.82[EUR][1000 genomes]
rs10798243	0.82[EUR][1000 genomes]
rs10798244	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10912499	0.83[EUR][1000 genomes]
rs10912502	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12037203	0.80[EUR][1000 genomes]
rs12402215	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12409216	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410129	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565596	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12567579	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739009	1.00[JPT][hapmap]
rs1883475	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2051629	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2179425	0.82[EUR][1000 genomes]
rs2187893	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2206363	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206364	0.81[EUR][1000 genomes]
rs2206365	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2206366	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422257	1.00[JPT][hapmap]
rs4145469	0.87[CEU][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap]
rs4916285	1.00[JPT][hapmap]
rs4916287	0.86[EUR][1000 genomes]
rs4916288	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4916289	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4916290	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6668693	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6674470	0.83[EUR][1000 genomes]
rs6688532	0.87[CEU][hapmap];1.00[JPT][hapmap]
rs7517726	0.83[EUR][1000 genomes]
rs7527986	1.00[JPT][hapmap]
rs7539319	1.00[JPT][hapmap]
rs7539951	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs926472	0.82[EUR][1000 genomes]
rs926473	0.80[EUR][1000 genomes]
rs926474	0.80[EUR][1000 genomes]
rs9283384	0.83[EUR][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	nsv831904	chr1:172912110-173070429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10912501	SNORD47	cis	cerebellum	SCAN
rs10912501	C1orf114	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172915200-172924600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:172917000-172921800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:172918000-172923000	Weak transcription	HSMMtube	muscle
4	chr1:172918000-172929000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:172918600-172924200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:172919000-172923000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:172919800-172921800	Enhancers	NHLF	lung
8	chr1:172920000-172922200	Enhancers	Fetal Lung	lung
9	chr1:172920400-172921800	Enhancers	HMEC	breast
10	chr1:172920400-172921800	Enhancers	NHEK	skin
11	chr1:172920600-172921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr1:172920800-172921800	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr1:172920800-172922200	Enhancers	Hela-S3	cervix
14	chr1:172921200-172925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:172921400-172924200	Weak transcription	Osteobl	bone
16	chr1:172921400-172924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:172921400-172927200	Enhancers	HUVEC	blood vessel
18	chr1:172921600-172923200	Weak transcription	NHDF-Ad	bronchial
19	chr1:172921600-172923400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:172921600-172923600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:172921600-172923600	Weak transcription	HSMM	muscle
22	chr1:172921600-172923800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:172921600-172924800	Weak transcription	Fetal Stomach	stomach
24	chr1:172921600-172929600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links