Variant report

Variant	rs9316478
Chromosome Location	chr13:50412506-50412507
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50411069..50412903-chr13:50413412..50414955,2	K562	blood:
2	chr13:50411667..50413611-chr13:50419305..50421241,2	K562	blood:
3	chr13:50411667..50415006-chr13:50418421..50422258,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1008939	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12019576	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1407439	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHB][hapmap];0.84[TSI][hapmap];0.87[YRI][hapmap]
rs3742096	0.95[CEU][hapmap];0.89[CHB][hapmap];0.93[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3901336	0.88[EUR][1000 genomes]
rs58303577	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61961485	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61961487	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7324563	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7326209	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7328465	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7332209	0.89[CHB][hapmap]
rs748678	1.00[ASW][hapmap];0.90[CEU][hapmap];0.84[TSI][hapmap];0.87[YRI][hapmap]
rs7982919	0.90[CEU][hapmap];0.89[CHB][hapmap];0.88[EUR][1000 genomes]
rs7983049	0.89[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7996689	0.90[CEU][hapmap];0.89[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9526606	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9535318	0.85[AMR][1000 genomes]
rs9535320	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535323	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535325	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535327	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9535346	0.89[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9535351	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs9535360	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535361	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9535362	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9535366	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs957474	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9316478	ITM2B	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50396000-50414400	Weak transcription	Right Atrium	heart
2	chr13:50402200-50412800	Weak transcription	Fetal Intestine Small	intestine
3	chr13:50405800-50414200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:50410400-50413400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr13:50410600-50415000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:50410800-50413200	Enhancers	Osteobl	bone
7	chr13:50411200-50412800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr13:50411200-50412800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:50411200-50412800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr13:50411200-50414400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr13:50411200-50414600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:50411400-50412600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr13:50411400-50412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:50411400-50412800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:50411400-50413000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:50411400-50414200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:50411400-50414400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:50411400-50414600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:50411400-50422000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr13:50411600-50412600	Weak transcription	HepG2	liver
21	chr13:50411600-50412600	Weak transcription	NH-A	brain
22	chr13:50411600-50412800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr13:50411600-50413000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:50411600-50414600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr13:50411800-50412600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr13:50411800-50412800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:50411800-50413000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:50411800-50413200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:50411800-50414200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr13:50412200-50412800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:50412200-50415200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:50412400-50412600	Enhancers	A549	lung

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