Variant report

Variant	rs12088947
Chromosome Location	chr1:216770160-216770161
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	chr1:216765465..216768393-chr1:216768731..216771064,2	MCF-7	breast:
2	chr1:216768575..216772450-chr1:216772804..216775706,3	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10218694	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10863256	0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10863258	0.89[ASN][1000 genomes]
rs11117627	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs11117628	0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087642	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1414530	0.83[MEX][hapmap]
rs1419242	0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1498276	0.83[MEX][hapmap]
rs1833038	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1833040	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1857401	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2377106	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4846546	0.91[ASN][1000 genomes]
rs6673566	0.83[MEX][hapmap]
rs6701062	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7519402	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7533692	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7544758	0.88[CEU][hapmap];0.82[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7546236	0.86[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap]
rs7553212	0.86[JPT][hapmap]
rs951034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549199	chr1:216384908-216814702	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1003815	chr1:216504235-216836498	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv535289	chr1:216504235-216836498	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873178	chr1:216714314-216813244	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12088947	DTL	cis	cerebellum	SCAN
rs12088947	SMYD2	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216721800-216774000	Weak transcription	Placenta	Placenta
2	chr1:216757400-216773600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:216764800-216773400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:216768800-216770200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:216769200-216770200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216769200-216770200	Active TSS	Fetal Lung	lung
7	chr1:216769200-216770400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:216769400-216770200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:216769400-216770200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:216769800-216770600	Weak transcription	Brain Angular Gyrus	brain
11	chr1:216769800-216771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:216769800-216773200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:216769800-216773400	Weak transcription	Brain Anterior Caudate	brain
14	chr1:216769800-216773800	Weak transcription	Fetal Intestine Large	intestine
15	chr1:216770000-216771400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:216770000-216771400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:216770000-216771600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:216770000-216771600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:216770000-216771600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:216770000-216773200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:216770000-216773200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:216770000-216773200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:216770000-216773400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:216770000-216773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:216770000-216773400	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:216770000-216773600	Weak transcription	Fetal Heart	heart
27	chr1:216770000-216773600	Weak transcription	Fetal Kidney	kidney
28	chr1:216770000-216773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:216770000-216774000	Weak transcription	Left Ventricle	heart

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