Variant report

Variant	rs11182382
Chromosome Location	chr12:44410575-44410576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10736018	0.84[CHB][hapmap];0.93[YRI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10785492	0.85[CHB][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10880608	0.87[YRI][hapmap];0.87[ASN][1000 genomes]
rs10880618	1.00[CEU][hapmap];0.86[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1098878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12322164	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1675785	0.81[YRI][hapmap]
rs1688723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1701083	1.00[CEU][hapmap];0.86[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1701094	0.89[JPT][hapmap]
rs17094183	0.83[CHB][hapmap]
rs2407788	0.80[ASW][hapmap];0.85[CHB][hapmap];0.86[MEX][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2657575	0.89[JPT][hapmap]
rs6582496	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136217	0.88[JPT][hapmap]
rs7312422	0.85[CHB][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.87[ASN][1000 genomes]
rs842193	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842194	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842195	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842199	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs842202	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs859699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs863580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832390	chr12:44318071-44512114	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1041188	chr12:44331098-44528712	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv832391	chr12:44394137-44552555	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11182382	CPNE8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44390800-44439200	Weak transcription	Esophagus	oesophagus
2	chr12:44402000-44432200	Weak transcription	Aorta	Aorta
3	chr12:44402800-44414600	Weak transcription	HSMMtube	muscle
4	chr12:44403600-44415600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:44404000-44422600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44404200-44414600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:44404200-44422800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:44404400-44416400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:44407200-44413000	Weak transcription	Pancreas	Pancrea
10	chr12:44409600-44411200	Enhancers	Fetal Brain Male	brain
11	chr12:44409800-44412000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:44409800-44412000	Enhancers	Fetal Brain Female	brain
13	chr12:44409800-44412200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:44409800-44414600	Weak transcription	GM12878-XiMat	blood
15	chr12:44410000-44410600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:44410000-44411200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:44410000-44415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr12:44410200-44411600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr12:44410200-44411600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:44410200-44413000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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