Variant report

Variant	rs7483667
Chromosome Location	chr11:9497184-9497185
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9479692..9486524-chr11:9491765..9498081,14	K562	blood:
2	chr11:9496196..9499185-chr11:9501862..9504317,2	K562	blood:
3	chr11:9480422..9483658-chr11:9496171..9498289,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166478	Chromatin interaction
ENSG00000268403	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1020621	0.84[ASN][1000 genomes]
rs1020622	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10770033	0.84[ASN][1000 genomes]
rs10770034	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840237	0.82[ASN][1000 genomes]
rs10840238	0.83[ASN][1000 genomes]
rs10840243	0.93[ASN][1000 genomes]
rs10840244	0.89[ASN][1000 genomes]
rs10840245	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10840247	0.98[ASN][1000 genomes]
rs10840249	0.94[ASN][1000 genomes]
rs10840253	0.81[EUR][1000 genomes]
rs11042348	0.81[ASN][1000 genomes]
rs11042350	0.83[ASN][1000 genomes]
rs11042353	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042355	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042356	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042366	0.82[ASN][1000 genomes]
rs11042374	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042377	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042393	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042397	0.87[EUR][1000 genomes]
rs11601316	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11826606	0.86[EUR][1000 genomes]
rs12271897	0.83[ASN][1000 genomes]
rs12282176	0.84[ASN][1000 genomes]
rs12792161	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12797567	0.81[ASN][1000 genomes]
rs12800802	0.83[ASN][1000 genomes]
rs12806418	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1377667	0.95[ASN][1000 genomes]
rs1470895	0.92[ASN][1000 genomes]
rs1470896	0.95[ASN][1000 genomes]
rs1543	0.95[ASN][1000 genomes]
rs1968717	0.97[ASN][1000 genomes]
rs2278900	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290424	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290425	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35781320	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3763877	0.95[ASN][1000 genomes]
rs41369549	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4810	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4910053	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4910468	0.95[ASN][1000 genomes]
rs6486359	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6486361	0.84[ASN][1000 genomes]
rs6486394	0.95[ASN][1000 genomes]
rs67548305	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7102473	0.97[ASN][1000 genomes]
rs7103931	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7104568	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7122252	0.83[ASN][1000 genomes]
rs723297	0.95[ASN][1000 genomes]
rs727405	0.94[ASN][1000 genomes]
rs729313	0.98[ASN][1000 genomes]
rs7395411	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7926589	0.95[ASN][1000 genomes]
rs7928823	0.83[EUR][1000 genomes]
rs7928945	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7932192	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7933621	0.97[ASN][1000 genomes]
rs7938998	0.89[EUR][1000 genomes]
rs7944435	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7949973	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8785	0.84[ASN][1000 genomes]
rs972594	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7483667	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	chr11:9483400-9499800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9483600-9499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9483600-9499400	Weak transcription	Pancreas	Pancrea
4	chr11:9483600-9518600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:9484000-9499600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:9484200-9499800	Weak transcription	Brain Angular Gyrus	brain
7	chr11:9484600-9544800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:9485200-9520000	Weak transcription	Stomach Mucosa	stomach
9	chr11:9485400-9499600	Weak transcription	A549	lung
10	chr11:9485600-9499800	Weak transcription	Hela-S3	cervix
11	chr11:9489600-9524000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr11:9489800-9523400	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr11:9490800-9497800	Strong transcription	Primary T cells from cord blood	blood
14	chr11:9491200-9497800	Strong transcription	Primary B cells from cord blood	blood
15	chr11:9491200-9497800	Strong transcription	Duodenum Mucosa	Duodenum
16	chr11:9491400-9498200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:9491400-9506200	Strong transcription	Liver	Liver
18	chr11:9491400-9525400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr11:9491400-9551600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr11:9491600-9497400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:9491600-9497800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:9491600-9497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:9491600-9497800	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:9491600-9497800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:9491600-9498200	Strong transcription	Fetal Lung	lung
26	chr11:9491600-9502600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:9492000-9498200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr11:9492000-9498200	Strong transcription	Left Ventricle	heart
29	chr11:9492000-9506000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr11:9492000-9527200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:9492200-9497800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:9492200-9497800	Strong transcription	Adipose Nuclei	Adipose
33	chr11:9492200-9503000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:9492200-9525400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:9492400-9497200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:9492600-9498800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:9492600-9502800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:9492600-9505800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr11:9492800-9497600	Strong transcription	Fetal Intestine Large	intestine
40	chr11:9492800-9497800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:9492800-9498400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:9492800-9498400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:9492800-9499600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:9492800-9507800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:9492800-9527800	Strong transcription	Fetal Stomach	stomach
46	chr11:9493000-9498000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:9493000-9498000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr11:9493000-9498400	Strong transcription	Fetal Muscle Trunk	muscle
49	chr11:9493200-9497400	Strong transcription	Small Intestine	intestine
50	chr11:9493200-9503200	Strong transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links