Variant report

Variant	rs12225755
Chromosome Location	chr11:9444251-9444252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9443985-9444475	A549	lung:	n/a	n/a
2	POLR2A	chr11:9444087-9444397	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:9443870-9444334	K562	blood:	n/a	n/a
4	POLR2A	chr11:9443890-9444897	K562	blood:	n/a	n/a
5	POLR2A	chr11:9443944-9444336	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:9443849-9444362	K562	blood:	n/a	n/a
7	POLR2A	chr11:9443967-9444375	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:9443931-9444452	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:9444020-9444321	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:9443926-9444455	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr11:9443888-9444868	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:9443909-9445897	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr11:9443916-9444476	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:9443974-9444393	GM12892	blood:	n/a	n/a
15	POLR2A	chr11:9443975-9444403	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:9443909-9444376	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:9444129-9444307	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9386147..9387677-chr11:9442254..9444555,2	K562	blood:
2	chr11:9443893..9446629-chr11:9448948..9451710,3	MCF-7	breast:
3	chr11:9443118..9444620-chr11:9455442..9457088,2	K562	blood:

No data

Variant related genes	Relation type
IPO7	TF binding region
ENSG00000201998	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1020621	0.94[ASN][1000 genomes]
rs1020622	0.94[ASN][1000 genomes]
rs10743107	0.94[ASN][1000 genomes]
rs10770028	0.94[ASN][1000 genomes]
rs10770029	0.94[ASN][1000 genomes]
rs10770032	0.94[ASN][1000 genomes]
rs10770033	0.94[ASN][1000 genomes]
rs10840228	0.94[ASN][1000 genomes]
rs10840230	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10840233	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10840234	0.91[ASN][1000 genomes]
rs10840235	0.96[ASN][1000 genomes]
rs10840236	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10840237	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10840238	0.94[ASN][1000 genomes]
rs10840241	0.80[ASN][1000 genomes]
rs10840243	0.83[ASN][1000 genomes]
rs10840245	0.80[ASN][1000 genomes]
rs11042328	0.93[ASN][1000 genomes]
rs11042329	0.93[ASN][1000 genomes]
rs11042330	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042338	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11042343	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11042348	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042349	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042350	0.94[ASN][1000 genomes]
rs11042353	0.94[ASN][1000 genomes]
rs11042355	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11042356	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11042366	0.84[ASN][1000 genomes]
rs11042377	0.80[ASN][1000 genomes]
rs11608024	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11826606	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12271897	0.94[ASN][1000 genomes]
rs12282176	0.94[ASN][1000 genomes]
rs12296039	0.90[ASN][1000 genomes]
rs12418581	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12795344	0.94[ASN][1000 genomes]
rs12797567	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12799672	0.87[ASN][1000 genomes]
rs12800802	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12801513	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12801924	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12804650	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1968717	0.80[ASN][1000 genomes]
rs2290423	0.90[ASN][1000 genomes]
rs34177710	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35781320	0.90[ASN][1000 genomes]
rs41369549	0.94[ASN][1000 genomes]
rs4810	0.94[ASN][1000 genomes]
rs4910051	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4910465	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6486306	0.90[ASN][1000 genomes]
rs6486307	0.93[ASN][1000 genomes]
rs6486359	0.94[ASN][1000 genomes]
rs6486361	0.94[ASN][1000 genomes]
rs67548305	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs68060819	0.85[ASN][1000 genomes]
rs7102473	0.80[ASN][1000 genomes]
rs7103931	0.84[ASN][1000 genomes]
rs7104568	0.94[ASN][1000 genomes]
rs7114824	0.95[ASN][1000 genomes]
rs7122252	0.94[ASN][1000 genomes]
rs7122499	0.82[ASN][1000 genomes]
rs7395411	0.91[ASN][1000 genomes]
rs7396544	0.83[ASN][1000 genomes]
rs7480253	0.81[EUR][1000 genomes]
rs7927350	0.81[ASN][1000 genomes]
rs7928945	0.81[ASN][1000 genomes]
rs7932192	0.83[ASN][1000 genomes]
rs7933621	0.80[ASN][1000 genomes]
rs7944435	0.84[ASN][1000 genomes]
rs7944578	0.87[ASN][1000 genomes]
rs7949973	0.94[ASN][1000 genomes]
rs8785	0.94[ASN][1000 genomes]
rs9667574	0.85[ASN][1000 genomes]
rs9787851	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12225755	IPO7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9419200-9446600	Weak transcription	Small Intestine	intestine
4	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:9425600-9446800	Weak transcription	Colonic Mucosa	Colon
16	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:9426200-9471600	Strong transcription	Dnd41	blood
18	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:9430400-9457400	Strong transcription	A549	lung
26	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:9431000-9453000	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr11:9431600-9449200	Weak transcription	Fetal Heart	heart
29	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
30	chr11:9432800-9450400	Weak transcription	Spleen	Spleen
31	chr11:9433000-9446800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:9433000-9449600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr11:9433200-9448600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:9433200-9451400	Weak transcription	Aorta	Aorta
36	chr11:9433400-9444400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:9434800-9470400	Strong transcription	Osteobl	bone
38	chr11:9435400-9466600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:9436000-9450000	Strong transcription	Liver	Liver
41	chr11:9436800-9450600	Weak transcription	Esophagus	oesophagus
42	chr11:9437000-9450200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr11:9437200-9445000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:9437800-9445600	Weak transcription	Fetal Brain Female	brain
45	chr11:9438000-9444600	Weak transcription	Primary B cells from cord blood	blood
46	chr11:9438200-9448800	Weak transcription	Colon Smooth Muscle	Colon
47	chr11:9439200-9444400	Strong transcription	Fetal Intestine Small	intestine
48	chr11:9439200-9444600	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr11:9439400-9444400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:9439400-9444400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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