Variant report

Variant	rs11024149
Chromosome Location	chr11:17097866-17097867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17097787-17100225	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:17093708-17100104	MCF10A-Er-Src	breast:	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	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr11:17096951-17098038	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:17093851-17100645	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:17097640-17100104	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:17094515-17100328	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:17097758-17100562	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:17094568-17100192	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:17096761-17100592	HepG2	liver:	n/a	n/a
13	POLR2A	chr11:17094537-17100702	K562	blood:	n/a	n/a
14	POLR2A	chr11:17092732-17100728	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:17094690-17100105	IMR90	lung:	n/a	n/a
16	POLR2A	chr11:17097534-17097981	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:17096754-17100216	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:17097782-17097980	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:17097741-17097986	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:17097215-17100753	K562	blood:	n/a	n/a
22	POLR2A	chr11:17094601-17100190	K562	blood:	n/a	n/a
23	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:17097768-17098010	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:17096094-17100723	K562	blood:	n/a	n/a
26	POLR2A	chr11:17097800-17100526	K562	blood:	n/a	n/a
27	POLR2A	chr11:17097792-17097966	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:17096026-17100607	GM18505	blood:	n/a	n/a
29	POLR2A	chr11:17097746-17100142	HL-60	blood:	n/a	n/a
30	POLR2A	chr11:17094605-17100236	GM12878	blood:	n/a	n/a
31	MXI1	chr11:17097588-17100750	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr11:17097795-17100238	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:17097613-17097959	A549	lung:	n/a	n/a
34	POLR2A	chr11:17097411-17100595	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr11:17097750-17100479	K562	blood:	n/a	chr11:17099680-17099695
36	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr11:17097001-17100064	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr11:17097513-17098571	K562	blood:	n/a	n/a

No data

(count:12 , 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	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:
4	chr11:17097827..17101102-chr11:17296839..17299555,4	K562	blood:
5	chr11:17097769..17100478-chr3:143690055..143692307,2	MCF-7	breast:
6	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
7	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
8	chr11:17096429..17100576-chr11:17227768..17230724,6	K562	blood:
9	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:
10	chr11:17097208..17101887-chr11:17227768..17230798,9	K562	blood:
11	chr11:17097048..17102595-chr11:17228016..17231208,7	MCF-7	breast:
12	chr11:17097742..17101154-chr11:17227974..17231312,6	MCF-7	breast:

No data

Variant related genes	Relation type
SNORD14B	TF binding region
RPS13	TF binding region
SNORD14A	TF binding region
ENSG00000110696	Chromatin interaction
ENSG00000110693	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000166689	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10832727	0.86[ASN][1000 genomes]
rs10832731	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832733	0.88[ASN][1000 genomes]
rs11024113	0.87[ASN][1000 genomes]
rs11024116	0.87[ASN][1000 genomes]
rs11024130	0.84[ASN][1000 genomes]
rs11024131	0.84[ASN][1000 genomes]
rs11024148	0.85[ASN][1000 genomes]
rs11024151	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11608038	0.81[EUR][1000 genomes]
rs11821773	0.80[ASN][1000 genomes]
rs12293395	0.86[ASN][1000 genomes]
rs1236311	0.84[EUR][1000 genomes]
rs12420958	0.90[EUR][1000 genomes]
rs12577388	0.92[EUR][1000 genomes]
rs12577418	0.88[EUR][1000 genomes]
rs17472942	0.92[EUR][1000 genomes]
rs17560341	0.92[EUR][1000 genomes]
rs17561348	0.86[EUR][1000 genomes]
rs17641418	0.86[EUR][1000 genomes]
rs1987694	0.92[EUR][1000 genomes]
rs214932	0.82[EUR][1000 genomes]
rs214933	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs214934	0.84[EUR][1000 genomes]
rs214938	0.85[EUR][1000 genomes]
rs34724588	0.87[EUR][1000 genomes]
rs34941502	0.86[EUR][1000 genomes]
rs35933265	0.80[ASN][1000 genomes]
rs3950680	0.86[EUR][1000 genomes]
rs4255517	0.87[ASN][1000 genomes]
rs4456241	0.87[ASN][1000 genomes]
rs4517490	0.87[ASN][1000 genomes]
rs476890	0.84[EUR][1000 genomes]
rs492263	0.81[EUR][1000 genomes]
rs522619	0.84[EUR][1000 genomes]
rs569780	0.84[EUR][1000 genomes]
rs586785	0.83[EUR][1000 genomes]
rs615424	0.84[EUR][1000 genomes]
rs61879692	0.93[EUR][1000 genomes]
rs644419	0.82[EUR][1000 genomes]
rs6486346	0.88[ASN][1000 genomes]
rs6486347	0.86[ASN][1000 genomes]
rs6486348	0.86[ASN][1000 genomes]
rs664382	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs665311	0.84[EUR][1000 genomes]
rs679201	0.84[EUR][1000 genomes]
rs71047522	0.86[ASN][1000 genomes]
rs7106954	0.86[ASN][1000 genomes]
rs7107283	0.80[ASN][1000 genomes]
rs7108067	0.84[EUR][1000 genomes]
rs7117166	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7123825	0.81[AFR][1000 genomes]
rs7125607	0.85[ASN][1000 genomes]
rs7929927	0.87[ASN][1000 genomes]
rs7930058	0.81[ASN][1000 genomes]
rs7935162	0.82[ASN][1000 genomes]
rs7937880	0.86[ASN][1000 genomes]
rs7949405	0.88[ASN][1000 genomes]
rs7950225	0.84[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
rs11024149	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	chr11:17095600-17098600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
9	chr11:17096000-17099000	Transcr. at gene 5' and 3'	A549	lung
10	chr11:17096200-17098000	Genic enhancers	Brain Anterior Caudate	brain
11	chr11:17096200-17098000	Genic enhancers	Placenta	Placenta
12	chr11:17096200-17098800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:17096200-17099200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr11:17096400-17098000	Genic enhancers	Primary B cells from cord blood	blood
15	chr11:17096400-17098000	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:17096400-17098000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:17096400-17098200	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr11:17096400-17098800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:17096600-17098000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr11:17096600-17098000	Enhancers	Small Intestine	intestine
21	chr11:17096600-17098400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:17096600-17098800	Transcr. at gene 5' and 3'	K562	blood
23	chr11:17096800-17098000	Transcr. at gene 5' and 3'	Osteobl	bone
24	chr11:17096800-17098400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:17097000-17098000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:17097000-17098000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:17097000-17098600	Transcr. at gene 5' and 3'	HMEC	breast
28	chr11:17097000-17098800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
29	chr11:17097000-17099200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
30	chr11:17097200-17098000	Genic enhancers	H1 Cell Line	embryonic stem cell
31	chr11:17097200-17098000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:17097200-17098000	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:17097200-17098000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:17097200-17098000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:17097200-17098000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
36	chr11:17097200-17098000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr11:17097200-17098000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:17097200-17098000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:17097200-17098000	Enhancers	Brain Angular Gyrus	brain
40	chr11:17097200-17098000	Genic enhancers	Fetal Intestine Large	intestine
41	chr11:17097200-17098000	Genic enhancers	Fetal Stomach	stomach
42	chr11:17097200-17098000	Genic enhancers	Pancreas	Pancrea
43	chr11:17097200-17098000	Genic enhancers	HSMMtube	muscle
44	chr11:17097200-17098200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:17097200-17098200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:17097200-17098200	Enhancers	Stomach Mucosa	stomach
47	chr11:17097200-17098400	Genic enhancers	Spleen	Spleen
48	chr11:17097200-17098600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
49	chr11:17097200-17098600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
50	chr11:17097200-17098600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin

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