Variant report

Variant	rs12806418
Chromosome Location	chr11:9504376-9504377
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1020621	0.85[ASN][1000 genomes]
rs1020622	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10770033	0.85[ASN][1000 genomes]
rs10770034	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840237	0.83[ASN][1000 genomes]
rs10840238	0.84[ASN][1000 genomes]
rs10840243	0.95[ASN][1000 genomes]
rs10840244	0.91[ASN][1000 genomes]
rs10840245	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840247	1.00[ASN][1000 genomes]
rs10840249	0.95[ASN][1000 genomes]
rs10840253	0.81[EUR][1000 genomes]
rs11042348	0.82[ASN][1000 genomes]
rs11042350	0.84[ASN][1000 genomes]
rs11042353	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042355	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042356	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042366	0.83[ASN][1000 genomes]
rs11042374	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042377	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042393	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042395	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042397	0.89[EUR][1000 genomes]
rs11601316	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11826606	0.85[EUR][1000 genomes]
rs12271897	0.84[ASN][1000 genomes]
rs12282176	0.85[ASN][1000 genomes]
rs12296039	0.81[ASN][1000 genomes]
rs12792161	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797567	0.82[ASN][1000 genomes]
rs12800802	0.84[ASN][1000 genomes]
rs1377667	0.97[ASN][1000 genomes]
rs1470895	0.94[ASN][1000 genomes]
rs1470896	0.97[ASN][1000 genomes]
rs1543	0.97[ASN][1000 genomes]
rs17258462	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1968717	0.98[ASN][1000 genomes]
rs2278900	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290423	0.81[ASN][1000 genomes]
rs2290424	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290425	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35781320	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763874	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3763877	0.97[ASN][1000 genomes]
rs41369549	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4810	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4910053	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4910468	0.97[ASN][1000 genomes]
rs6486359	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6486361	0.85[ASN][1000 genomes]
rs6486394	0.97[ASN][1000 genomes]
rs67548305	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7102473	0.98[ASN][1000 genomes]
rs7103931	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7104568	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7122252	0.84[ASN][1000 genomes]
rs723297	0.97[ASN][1000 genomes]
rs727405	0.95[ASN][1000 genomes]
rs729313	1.00[ASN][1000 genomes]
rs7395411	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7483667	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7926589	0.97[ASN][1000 genomes]
rs7928823	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7928945	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7932192	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7933621	0.98[ASN][1000 genomes]
rs7938998	0.89[EUR][1000 genomes]
rs7944435	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7949973	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8785	0.85[ASN][1000 genomes]
rs972594	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv1039537	chr11:9455387-9535970	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv7670	chr11:9500895-9514750	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3511643	chr11:9502176-9510124	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv3511644	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3511645	chr11:9502576-9510074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2486941	chr11:9502781-9509444	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3511642	chr11:9502810-9509629	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv19833	chr11:9503476-9508855	Strong transcription Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12806418	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
4	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:9491400-9506200	Strong transcription	Liver	Liver
7	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:9492600-9505800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
15	chr11:9493200-9506600	Strong transcription	Fetal Intestine Small	intestine
16	chr11:9495600-9525400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:9495800-9505800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9496200-9520000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:9496200-9522600	Weak transcription	Fetal Heart	heart
20	chr11:9496600-9507000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:9496600-9516000	Weak transcription	Fetal Brain Male	brain
22	chr11:9496600-9517000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:9496600-9528200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:9497400-9517400	Weak transcription	Small Intestine	intestine
25	chr11:9498800-9505600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:9498800-9506200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:9499200-9504800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:9499200-9504800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:9499200-9505800	Strong transcription	Adipose Nuclei	Adipose
30	chr11:9499200-9506000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:9499200-9506200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:9499200-9507800	Strong transcription	Fetal Muscle Trunk	muscle
33	chr11:9499200-9508200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:9499200-9526000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:9499400-9505000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:9499400-9505400	Strong transcription	Thymus	Thymus
37	chr11:9499400-9506000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:9499400-9507800	Strong transcription	Fetal Muscle Leg	muscle
39	chr11:9499600-9505800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:9499600-9507800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:9499800-9504600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:9499800-9505800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:9499800-9508200	Strong transcription	Fetal Intestine Large	intestine
44	chr11:9500200-9507000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:9500200-9510600	Weak transcription	HSMMtube	muscle
46	chr11:9500200-9516000	Weak transcription	Pancreas	Pancrea
47	chr11:9500400-9522600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:9500600-9519800	Weak transcription	A549	lung
49	chr11:9501400-9505400	Weak transcription	K562	blood
50	chr11:9501400-9512400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links