Variant report

Variant	rs1726745
Chromosome Location	chr11:73713442-73713443
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1685355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1685356	0.89[CEU][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1726744	0.87[JPT][hapmap]
rs1726746	0.91[JPT][hapmap]
rs1726764	0.91[JPT][hapmap]
rs1790398	0.87[JPT][hapmap]
rs1790399	0.87[JPT][hapmap]
rs1790404	0.86[JPT][hapmap]
rs2075577	0.89[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944036	0.87[JPT][hapmap]
rs588097	0.88[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs590336	0.89[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs591758	0.91[CHB][hapmap]
rs599277	0.86[CHB][hapmap]
rs605442	0.82[CHB][hapmap]
rs631551	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs653529	0.91[CHB][hapmap]
rs655717	0.82[CHB][hapmap]
rs659366	0.91[CHB][hapmap]
rs660339	0.86[CHB][hapmap]
rs673494	0.85[CHB][hapmap]
rs680307	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs682602	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926165	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826033	0.87[JPT][hapmap]
rs826039	0.87[JPT][hapmap]
rs826056	0.86[JPT][hapmap]
rs826061	0.87[JPT][hapmap]
rs826062	0.87[JPT][hapmap]
rs9735789	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1726745	MRPL48	cis	cerebellum	SCAN

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73703000-73719400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:73706000-73713800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:73706800-73713600	Weak transcription	Liver	Liver
4	chr11:73706800-73713800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:73707000-73714400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:73707200-73713600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr11:73707200-73714800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:73707400-73719800	Weak transcription	Dnd41	blood
9	chr11:73708000-73717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:73708200-73713600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:73708600-73714800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:73708800-73714400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:73708800-73729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:73709000-73714200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:73709000-73714400	Weak transcription	Gastric	stomach
16	chr11:73709000-73724200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:73709400-73714200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:73709400-73716600	Weak transcription	Small Intestine	intestine
19	chr11:73709800-73714000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:73710000-73713600	Weak transcription	Left Ventricle	heart
21	chr11:73710000-73713800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr11:73710000-73715800	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:73710200-73728400	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:73710400-73715800	Weak transcription	Fetal Intestine Large	intestine
25	chr11:73710600-73713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
27	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
28	chr11:73710800-73717000	Enhancers	K562	blood
29	chr11:73710800-73717800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:73710800-73722400	Weak transcription	NHDF-Ad	bronchial
31	chr11:73711000-73713800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:73711000-73714400	Weak transcription	Pancreas	Pancrea
33	chr11:73711000-73715000	Strong transcription	Fetal Stomach	stomach
34	chr11:73711000-73715400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:73711000-73715400	Strong transcription	Fetal Intestine Small	intestine
36	chr11:73711000-73718400	Strong transcription	Fetal Brain Female	brain
37	chr11:73711000-73721200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:73711000-73729200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:73711200-73715000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr11:73711200-73716200	Weak transcription	GM12878-XiMat	blood
41	chr11:73711200-73718200	Strong transcription	Brain Germinal Matrix	brain
42	chr11:73711400-73713600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:73711400-73713800	Weak transcription	Primary T cells from cord blood	blood
44	chr11:73711400-73714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:73711400-73717000	Strong transcription	Stomach Smooth Muscle	stomach
46	chr11:73711400-73717400	Strong transcription	Right Ventricle	heart
47	chr11:73711600-73714800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:73711600-73715200	Strong transcription	Fetal Thymus	thymus
49	chr11:73711600-73715400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73711600-73715600	Genic enhancers	Primary T cells fromperipheralblood	blood

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