Variant report

Variant	rs11140312
Chromosome Location	chr9:86585776-86585777
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:86585604-86589004	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:86585771-86587940	GM12892	blood:	n/a	n/a
3	POLR2A	chr9:86583469-86597690	K562	blood:	n/a	n/a
4	POLR2A	chr9:86584320-86587706	GM12878	blood:	n/a	n/a
5	POLR2A	chr9:86585733-86586236	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr9:86584325-86587727	K562	blood:	n/a	n/a
7	POLR2A	chr9:86584019-86593013	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:86579375-86587923	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr9:86584178-86592956	GM12891	blood:	n/a	n/a
10	POLR2A	chr9:86585643-86587670	GM12892	blood:	n/a	n/a
11	POLR2A	chr9:86585675-86587885	MCF-7	breast:	n/a	n/a
12	POLR2A	chr9:86585316-86587534	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:86585710-86587786	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr9:86585154-86587788	U87	brain:	n/a	n/a
15	POLR2A	chr9:86584386-86586173	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000235298	TF binding region
HNRNPK	TF binding region
MIR7-1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10868067	0.93[EUR][1000 genomes]
rs11140269	0.85[EUR][1000 genomes]
rs11140270	0.85[EUR][1000 genomes]
rs11140271	1.00[EUR][1000 genomes]
rs11140274	0.92[EUR][1000 genomes]
rs11140275	0.92[EUR][1000 genomes]
rs11140280	1.00[EUR][1000 genomes]
rs11140288	1.00[EUR][1000 genomes]
rs11140290	0.86[EUR][1000 genomes]
rs11140292	1.00[EUR][1000 genomes]
rs11140294	1.00[EUR][1000 genomes]
rs11140296	1.00[EUR][1000 genomes]
rs11140308	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11140309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140310	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140314	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140316	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140321	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140322	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11140337	1.00[EUR][1000 genomes]
rs11140338	1.00[EUR][1000 genomes]
rs11531847	1.00[EUR][1000 genomes]
rs11533022	1.00[EUR][1000 genomes]
rs11533047	0.93[EUR][1000 genomes]
rs11535577	1.00[EUR][1000 genomes]
rs11559387	0.85[EUR][1000 genomes]
rs12056961	1.00[EUR][1000 genomes]
rs12235653	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237056	1.00[EUR][1000 genomes]
rs12237297	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2017558	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750407	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59409125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60989495	0.86[EUR][1000 genomes]
rs73471357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9776332	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469859	chr9:86398152-86587957	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv482641	chr9:86398152-86587957	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv2758192	chr9:86414024-86603602	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2759701	chr9:86414024-86603602	Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv8541	chr9:86469723-86593758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv831644	chr9:86534310-86704395	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	esv3366490	chr9:86541369-86608868	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
8	nsv1043703	chr9:86545917-86603545	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	nsv893514	chr9:86584160-86678917	Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86572000-86586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
3	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:86572400-86585800	Weak transcription	Pancreas	Pancrea
5	chr9:86572400-86586000	Weak transcription	Gastric	stomach
6	chr9:86572400-86586000	Weak transcription	Psoas Muscle	Psoas
7	chr9:86572400-86586000	Weak transcription	Right Ventricle	heart
8	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
9	chr9:86573200-86585800	Weak transcription	Lung	lung
10	chr9:86577600-86586400	Weak transcription	Esophagus	oesophagus
11	chr9:86577600-86586600	Weak transcription	Stomach Mucosa	stomach
12	chr9:86577800-86586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:86579000-86585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:86580200-86585800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:86580600-86588600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:86580800-86586000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr9:86580800-86588400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:86580800-86588600	Strong transcription	Dnd41	blood
21	chr9:86580800-86589800	Strong transcription	HMEC	breast
22	chr9:86581000-86586800	Strong transcription	A549	lung
23	chr9:86581000-86587800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr9:86581000-86590000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:86581000-86591000	Strong transcription	Osteobl	bone
26	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
28	chr9:86581200-86588800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:86581200-86589600	Strong transcription	Liver	Liver
30	chr9:86581200-86589600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr9:86581200-86589800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr9:86581200-86590000	Strong transcription	Fetal Muscle Leg	muscle
33	chr9:86581200-86590400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:86581200-86591200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:86581200-86591200	Strong transcription	Adipose Nuclei	Adipose
36	chr9:86581200-86591200	Strong transcription	HSMM	muscle
37	chr9:86581200-86591400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:86581200-86591600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr9:86581200-86591800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr9:86581200-86591800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:86581200-86591800	Strong transcription	HSMMtube	muscle
42	chr9:86581200-86592200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:86581200-86592200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:86581200-86592400	Strong transcription	Fetal Thymus	thymus
45	chr9:86581200-86593000	Strong transcription	Placenta	Placenta
46	chr9:86581400-86588400	Strong transcription	Fetal Intestine Large	intestine
47	chr9:86581400-86589800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:86581400-86589800	Strong transcription	Brain Anterior Caudate	brain
49	chr9:86581400-86589800	Strong transcription	HUVEC	blood vessel
50	chr9:86581400-86591400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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