Variant report

Variant	rs7949053
Chromosome Location	chr11:9385435-9385436
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9334051..9337836-chr11:9384228..9387561,5	MCF-7	breast:
2	chr11:9285276..9286981-chr11:9384842..9387352,3	MCF-7	breast:
3	chr11:9383299..9385895-chr11:9587946..9590537,2	MCF-7	breast:
4	chr11:9384653..9387328-chr11:9479697..9482338,3	MCF-7	breast:
5	chr11:9384097..9385753-chr12:124509844..124511367,2	MCF-7	breast:
6	chr11:9385385..9387133-chr11:9397902..9400068,2	MCF-7	breast:
7	chr11:9381559..9387995-chr11:9480641..9484889,12	K562	blood:
8	chr11:9384832..9388447-chr11:9401739..9404383,5	MCF-7	breast:
9	chr11:9383572..9387718-chr11:9404633..9407849,8	MCF-7	breast:
10	chr11:9384745..9387627-chr11:9387975..9389794,3	K562	blood:
11	chr11:9331410..9339611-chr11:9380876..9388176,24	K562	blood:
12	chr11:9382569..9389533-chr11:9404674..9410600,16	MCF-7	breast:
13	chr11:9384238..9386288-chr11:9482969..9485060,2	MCF-7	breast:
14	chr11:9383348..9385949-chr11:9390931..9392449,2	MCF-7	breast:
15	chr11:9301124..9302676-chr11:9383482..9385931,2	K562	blood:
16	chr11:9384588..9386310-chr13:24153918..24155432,2	K562	blood:
17	chr11:9285562..9287153-chr11:9383259..9386336,3	K562	blood:
18	chr11:9276841..9278348-chr11:9384168..9386134,2	K562	blood:
19	chr11:9385285..9386284-chr2:85581210..85581745,2	Hela-S3	cervix:
20	chr11:9367453..9371339-chr11:9383916..9387622,3	K562	blood:
21	chr11:9381627..9391078-chr11:9403280..9408916,26	K562	blood:
22	chr11:9284716..9287065-chr11:9383893..9385739,2	K562	blood:
23	chr11:9381818..9384534-chr11:9384807..9386539,2	MCF-7	breast:
24	chr11:8729818..8732342-chr11:9384547..9387527,2	MCF-7	breast:
25	chr11:9368736..9371339-chr11:9384685..9387958,4	K562	blood:
26	chr11:9384438..9386089-chr11:9633922..9636673,2	MCF-7	breast:
27	chr11:9331719..9338309-chr11:9381508..9387747,16	K562	blood:
28	chr11:9384654..9388171-chr11:9393379..9396078,3	MCF-7	breast:
29	chr11:9381937..9391078-chr11:9402547..9409222,25	K562	blood:
30	chr11:9384002..9387558-chr11:9481143..9484126,7	K562	blood:
31	chr11:9335001..9337527-chr11:9383012..9386033,4	MCF-7	breast:
32	chr11:9130567..9133268-chr11:9383092..9385997,2	MCF-7	breast:
33	chr11:9339910..9342250-chr11:9383907..9387311,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268403	Chromatin interaction
ENSG00000184014	Chromatin interaction
ENSG00000042445	Chromatin interaction
ENSG00000115459	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000166471	Chromatin interaction
ENSG00000166478	Chromatin interaction
ENSG00000254884	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10437595	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10437596	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10437665	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770024	0.85[ASN][1000 genomes]
rs10840218	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840219	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840220	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840222	0.83[ASN][1000 genomes]
rs10840224	0.83[ASN][1000 genomes]
rs11042311	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12291369	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35484677	0.93[ASN][1000 genomes]
rs4243948	0.84[ASN][1000 genomes]
rs4362147	0.84[ASN][1000 genomes]
rs4409822	0.81[ASN][1000 genomes]
rs4471419	0.84[ASN][1000 genomes]
rs4525241	0.81[ASN][1000 genomes]
rs4582976	0.84[ASN][1000 genomes]
rs4625466	0.85[ASN][1000 genomes]
rs4910045	0.85[EUR][1000 genomes]
rs4910046	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910047	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910048	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4910049	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4910050	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4910458	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4910459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910460	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910461	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7105373	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7115821	0.94[ASN][1000 genomes]
rs7394742	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7395630	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7930205	0.86[ASN][1000 genomes]
rs7944535	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946263	0.98[ASN][1000 genomes]
rs7952145	0.98[ASN][1000 genomes]
rs9971433	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9971484	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
4	nsv975322	chr11:9363750-9395226	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7949053	IPO7	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9382800-9385600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:9382800-9385600	Enhancers	NHEK	skin
3	chr11:9383000-9385600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:9383000-9385600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:9383000-9385600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:9383000-9385600	Enhancers	HSMM	muscle
7	chr11:9383000-9385600	Enhancers	Osteobl	bone
8	chr11:9383000-9386000	Enhancers	HMEC	breast
9	chr11:9383000-9386200	Enhancers	HUVEC	blood vessel
10	chr11:9383000-9386400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:9383200-9385600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:9383200-9385600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:9383200-9386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:9383200-9386600	Enhancers	Fetal Heart	heart
15	chr11:9383800-9385600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:9383800-9385600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr11:9383800-9385600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:9383800-9385800	Flanking Active TSS	K562	blood
19	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:9383800-9386200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:9384000-9385600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:9384000-9385600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:9384000-9385600	Weak transcription	Esophagus	oesophagus
24	chr11:9384000-9385800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:9384000-9386200	Enhancers	NH-A	brain
26	chr11:9384200-9385600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:9384200-9385600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr11:9384200-9386400	Enhancers	NHLF	lung
29	chr11:9384600-9385600	Weak transcription	Right Ventricle	heart
30	chr11:9384600-9385600	Enhancers	HSMMtube	muscle
31	chr11:9384800-9385600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:9385000-9385600	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:9385000-9385600	Enhancers	Left Ventricle	heart
34	chr11:9385000-9385600	Enhancers	Stomach Mucosa	stomach
35	chr11:9385000-9386600	Active TSS	Brain Germinal Matrix	brain
36	chr11:9385200-9385600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:9385200-9385600	Enhancers	Lung	lung
38	chr11:9385200-9385600	Enhancers	Pancreas	Pancrea
39	chr11:9385200-9385800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:9385200-9386600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr11:9385400-9385600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:9385400-9385600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:9385400-9385600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr11:9385400-9385600	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr11:9385400-9385600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:9385400-9385600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:9385400-9385600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr11:9385400-9385600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:9385400-9385600	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr11:9385400-9385600	Flanking Active TSS	Fetal Kidney	kidney

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