Variant report

Variant	rs17011476
Chromosome Location	chr10:50135505-50135506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50134544..50136847-chr10:50137710..50140535,2	K562	blood:
2	chr10:50131861..50135553-chr10:50138242..50140139,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17011252	1.00[MEX][hapmap]
rs73296608	0.84[AFR][1000 genomes]
rs73296630	0.84[AFR][1000 genomes]
rs73296649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7911808	1.00[MEX][hapmap]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831865	chr10:49994254-50164239	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17011476	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50121000-50155800	Weak transcription	Primary T cells from cord blood	blood
2	chr10:50125400-50154400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr10:50127800-50147000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:50127800-50150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:50127800-50150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:50130200-50143000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr10:50130800-50143600	Strong transcription	Primary B cells from cord blood	blood
8	chr10:50133000-50139000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr10:50133800-50138600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:50134000-50136200	Enhancers	Fetal Muscle Leg	muscle
11	chr10:50134000-50136800	Enhancers	Fetal Muscle Trunk	muscle
12	chr10:50134200-50136200	Enhancers	Fetal Stomach	stomach
13	chr10:50134400-50135600	Strong transcription	GM12878-XiMat	blood
14	chr10:50134400-50135800	Enhancers	Fetal Lung	lung
15	chr10:50134400-50137400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr10:50134600-50141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr10:50134600-50160400	Weak transcription	Right Atrium	heart
18	chr10:50135200-50135600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:50135400-50135800	Enhancers	Brain Germinal Matrix	brain
20	chr10:50135400-50149800	Weak transcription	Spleen	Spleen

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