Variant report

Variant	rs10832731
Chromosome Location	chr11:17097695-17097696
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17093708-17100104	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr11:17096198-17097791	U87	brain:	n/a	n/a
3	POLR2A	chr11:17093738-17102258	K562	blood:	n/a	n/a
4	POLR2A	chr11:17094588-17097949	K562	blood:	n/a	n/a
5	POLR2A	chr11:17096192-17097837	U87	brain:	n/a	n/a
6	POLR2A	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr11:17096951-17098038	GM12891	blood:	n/a	n/a
8	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:17097640-17100104	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:17094515-17100328	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:17092359-17097808	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:17094568-17100192	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:17096761-17100592	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:17094537-17100702	K562	blood:	n/a	n/a
15	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:17094690-17100105	IMR90	lung:	n/a	n/a
17	POLR2A	chr11:17097534-17097981	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:17096754-17100216	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr11:17097215-17100753	K562	blood:	n/a	n/a
21	POLR2A	chr11:17094601-17100190	K562	blood:	n/a	n/a
22	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:17093744-17097704	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr11:17096094-17100723	K562	blood:	n/a	n/a
25	POLR2A	chr11:17094604-17097745	A549	lung:	n/a	n/a
26	POLR2A	chr11:17096026-17100607	GM18505	blood:	n/a	n/a
27	POLR2A	chr11:17094605-17100236	GM12878	blood:	n/a	n/a
28	MXI1	chr11:17097588-17100750	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr11:17097064-17097701	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:17097613-17097959	A549	lung:	n/a	n/a
31	POLR2A	chr11:17097411-17100595	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
33	POLR2A	chr11:17096990-17097715	GM12891	blood:	n/a	n/a
34	POLR2A	chr11:17097001-17100064	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr11:17097513-17098571	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16804738..16808801-chr11:17097608..17100627,5	K562	blood:
2	chr11:16837352..16839360-chr11:17097590..17099219,2	MCF-7	breast:
3	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
4	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
5	chr11:17096429..17100576-chr11:17227768..17230724,6	K562	blood:
6	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:
7	chr11:17097208..17101887-chr11:17227768..17230798,9	K562	blood:
8	chr11:17097048..17102595-chr11:17228016..17231208,7	MCF-7	breast:

No data

Variant related genes	Relation type
RPS13	TF binding region
SNORD14B	TF binding region
SNORD14A	TF binding region
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10832727	0.82[ASN][1000 genomes]
rs11024149	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024151	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11608038	0.80[EUR][1000 genomes]
rs1236311	0.83[EUR][1000 genomes]
rs12420958	0.91[EUR][1000 genomes]
rs12577388	0.91[EUR][1000 genomes]
rs12577418	0.90[EUR][1000 genomes]
rs17472942	0.91[EUR][1000 genomes]
rs17560341	0.91[EUR][1000 genomes]
rs17561348	0.85[EUR][1000 genomes]
rs17641418	0.85[EUR][1000 genomes]
rs1987694	0.91[EUR][1000 genomes]
rs214932	0.81[EUR][1000 genomes]
rs214933	0.83[EUR][1000 genomes]
rs214934	0.83[EUR][1000 genomes]
rs214938	0.84[EUR][1000 genomes]
rs34724588	0.86[EUR][1000 genomes]
rs34941502	0.85[EUR][1000 genomes]
rs3950680	0.85[EUR][1000 genomes]
rs476890	0.83[EUR][1000 genomes]
rs492263	0.81[EUR][1000 genomes]
rs522619	0.83[EUR][1000 genomes]
rs569780	0.83[EUR][1000 genomes]
rs586785	0.82[EUR][1000 genomes]
rs615424	0.83[EUR][1000 genomes]
rs61879692	0.91[EUR][1000 genomes]
rs644419	0.82[EUR][1000 genomes]
rs6486346	0.80[ASN][1000 genomes]
rs664382	0.83[EUR][1000 genomes]
rs665311	0.83[EUR][1000 genomes]
rs679201	0.83[EUR][1000 genomes]
rs7108067	0.83[EUR][1000 genomes]
rs7117166	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7949405	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10832731	NUCB2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17085400-17098200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17087000-17098000	Weak transcription	Esophagus	oesophagus
3	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
5	chr11:17095000-17098200	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr11:17095200-17098000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:17095200-17098000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:17095600-17097800	Genic enhancers	Liver	Liver
9	chr11:17095600-17098600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr11:17096000-17097800	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr11:17096000-17099000	Transcr. at gene 5' and 3'	A549	lung
12	chr11:17096200-17097800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr11:17096200-17097800	Genic enhancers	Brain Hippocampus Middle	brain
14	chr11:17096200-17098000	Genic enhancers	Brain Anterior Caudate	brain
15	chr11:17096200-17098000	Genic enhancers	Placenta	Placenta
16	chr11:17096200-17098800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:17096200-17099200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
18	chr11:17096400-17097800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr11:17096400-17097800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:17096400-17098000	Genic enhancers	Primary B cells from cord blood	blood
21	chr11:17096400-17098000	Genic enhancers	Fetal Intestine Small	intestine
22	chr11:17096400-17098000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
23	chr11:17096400-17098200	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr11:17096400-17098800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:17096600-17097800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:17096600-17098000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr11:17096600-17098000	Enhancers	Small Intestine	intestine
28	chr11:17096600-17098400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:17096600-17098800	Transcr. at gene 5' and 3'	K562	blood
30	chr11:17096800-17097800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:17096800-17098000	Transcr. at gene 5' and 3'	Osteobl	bone
32	chr11:17096800-17098400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:17097000-17097800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
34	chr11:17097000-17098000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:17097000-17098000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:17097000-17098600	Transcr. at gene 5' and 3'	HMEC	breast
37	chr11:17097000-17098800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr11:17097000-17099200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
39	chr11:17097200-17097800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:17097200-17097800	Genic enhancers	Primary T cells fromperipheralblood	blood
41	chr11:17097200-17097800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:17097200-17097800	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:17097200-17097800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:17097200-17097800	Genic enhancers	Thymus	Thymus
45	chr11:17097200-17097800	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr11:17097200-17098000	Genic enhancers	H1 Cell Line	embryonic stem cell
47	chr11:17097200-17098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:17097200-17098000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:17097200-17098000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:17097200-17098000	Genic enhancers	Primary monocytes fromperipheralblood	blood

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