Variant report

Variant	rs1191236
Chromosome Location	chr1:94572270-94572271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94565667..94567409-chr1:94572169..94573688,2	MCF-7	breast:
2	chr1:94571469..94574892-chr1:94577789..94583222,4	K562	blood:
3	chr1:94570362..94572497-chr1:94572794..94574672,2	MCF-7	breast:
4	chr1:94569570..94572395-chr1:94575385..94578285,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11165074	0.95[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12745358	0.95[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34481412	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871558	chr1:94544276-94576968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv870555	chr1:94545160-94577744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	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
rs1191236	SNORD21	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94558200-94573000	Weak transcription	Spleen	Spleen
2	chr1:94564000-94572600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:94564200-94573000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:94564600-94573600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
6	chr1:94564800-94577400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:94565400-94572400	Enhancers	Placenta	Placenta
8	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
9	chr1:94570000-94572400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:94570000-94572600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:94570000-94573600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:94570400-94572400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr1:94570400-94572400	Enhancers	Dnd41	blood
14	chr1:94570400-94572600	Enhancers	A549	lung
15	chr1:94570800-94573400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:94570800-94576800	Weak transcription	HMEC	breast
17	chr1:94571000-94575400	Weak transcription	Fetal Lung	lung
18	chr1:94571000-94583000	Weak transcription	Pancreas	Pancrea
19	chr1:94571400-94572400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr1:94571400-94572400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:94571400-94572800	Enhancers	NH-A	brain
22	chr1:94571600-94572400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
23	chr1:94571600-94572800	Bivalent Enhancer	HepG2	liver
24	chr1:94571600-94572800	Enhancers	Osteobl	bone
25	chr1:94571800-94572400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
26	chr1:94571800-94572400	Enhancers	Fetal Kidney	kidney
27	chr1:94571800-94574800	Weak transcription	Adipose Nuclei	Adipose
28	chr1:94571800-94576400	Weak transcription	Liver	Liver
29	chr1:94571800-94581400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:94572200-94572400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:94572200-94572400	Enhancers	Brain Substantia Nigra	brain
32	chr1:94572200-94572400	Bivalent Enhancer	GM12878-XiMat	blood
33	chr1:94572200-94572600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:94572200-94572600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
35	chr1:94572200-94572800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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