Variant report

Variant	rs7151951
Chromosome Location	chr14:72942613-72942614
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72942498..72946263-chr14:72947951..72951671,4	MCF-7	breast:
2	chr14:72937315..72940089-chr14:72941556..72943605,3	MCF-7	breast:
3	chr14:72942083..72944144-chr14:72945071..72947674,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2238184	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs2239213	1.00[CHB][hapmap]
rs2239279	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2239280	1.00[CHB][hapmap]
rs2283379	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3819547	1.00[CHB][hapmap]
rs735995	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8008067	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.83[YRI][hapmap]
rs8014634	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs917427	0.91[YRI][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7151951	RDH12	cis	cerebellum	SCAN
rs7151951	SMOC1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72919400-72945200	Weak transcription	Brain Germinal Matrix	brain
2	chr14:72923800-72946200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:72930200-72943400	Weak transcription	Left Ventricle	heart
4	chr14:72930400-72943000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:72934400-72943400	Weak transcription	Spleen	Spleen
6	chr14:72936000-72946200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:72937600-72943000	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:72938600-72943400	Weak transcription	Lung	lung
9	chr14:72939400-72943000	Weak transcription	Primary T cells from cord blood	blood
10	chr14:72939600-72943000	Weak transcription	Fetal Thymus	thymus
11	chr14:72940400-72946000	Weak transcription	Fetal Brain Female	brain
12	chr14:72941400-72942800	Enhancers	Dnd41	blood
13	chr14:72942000-72943000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:72942200-72943800	Weak transcription	Fetal Kidney	kidney
15	chr14:72942200-72947600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr14:72942400-72943400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:72942400-72947000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr14:72942600-72943200	Enhancers	Duodenum Mucosa	Duodenum
19	chr14:72942600-72943600	Flanking Active TSS	GM12878-XiMat	blood
20	chr14:72942600-72945800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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