Variant report

Variant	rs10845390
Chromosome Location	chr12:11768969-11768970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10772491	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10772492	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845389	0.91[EUR][1000 genomes]
rs10845391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845394	0.88[EUR][1000 genomes]
rs10845396	0.87[EUR][1000 genomes]
rs10845397	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs11054377	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11054378	0.92[EUR][1000 genomes]
rs11054379	0.92[EUR][1000 genomes]
rs11054384	0.92[EUR][1000 genomes]
rs11054385	1.00[CEU][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs11054389	0.88[EUR][1000 genomes]
rs11054390	0.87[EUR][1000 genomes]
rs11833870	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11835584	0.92[EUR][1000 genomes]
rs12366449	0.91[EUR][1000 genomes]
rs12368746	0.92[EUR][1000 genomes]
rs12371924	0.92[EUR][1000 genomes]
rs4763712	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58419583	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58572989	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60345208	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488434	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488436	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488437	0.90[EUR][1000 genomes]
rs6488440	0.92[EUR][1000 genomes]
rs7132693	0.92[EUR][1000 genomes]
rs7133901	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7311752	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7313110	0.86[EUR][1000 genomes]
rs7962768	0.92[EUR][1000 genomes]
rs9668837	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9669330	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv898803	chr12:11757867-11794636	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv470267	chr12:11767406-11787989	Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10845390	M6PR	cis	cerebellum	SCAN
rs10845390	KIAA1467	cis	cerebellum	SCAN
rs10845390	EMP1	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11760800-11775600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:11763000-11771400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:11763000-11773400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:11764000-11770000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:11766000-11770600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:11766000-11774800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:11766200-11771400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:11767600-11773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:11768400-11769000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr12:11768400-11769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:11768400-11769000	Enhancers	Liver	Liver
12	chr12:11768600-11769000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:11768600-11769000	Enhancers	Brain Germinal Matrix	brain
14	chr12:11768800-11769000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:11768800-11770000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:11768800-11770000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:11768800-11770000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:11768800-11771200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:11768800-11774800	Weak transcription	Primary hematopoietic stem cells	blood

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