Variant report

Variant	rs11820353
Chromosome Location	chr11:17098028-17098029
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 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	chr11:17094321-17099956	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr11:17098018-17100090	MCF10A-Er-Src	breast:	n/a	n/a
6	NR2F2	chr11:17098027-17099626	K562	blood:	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	chr11:17097758-17100562	H1-hESC	embryonic stem cell:	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	chr11:17096754-17100216	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:17094536-17100574	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:17097215-17100753	K562	blood:	n/a	n/a
20	POLR2A	chr11:17094601-17100190	K562	blood:	n/a	n/a
21	WRNIP1	chr11:17098019-17099818	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:17094401-17100379	GM12892	blood:	n/a	n/a
23	ZNF384	chr11:17097992-17098278	K562	blood:	n/a	n/a
24	POLR2A	chr11:17096094-17100723	K562	blood:	n/a	n/a
25	POLR2A	chr11:17097800-17100526	K562	blood:	n/a	n/a
26	POLR2A	chr11:17096026-17100607	GM18505	blood:	n/a	n/a
27	POLR2A	chr11:17097746-17100142	HL-60	blood:	n/a	n/a
28	POLR2A	chr11:17094605-17100236	GM12878	blood:	n/a	n/a
29	MXI1	chr11:17097588-17100750	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:17098004-17100237	GM18951	blood:	n/a	n/a
31	POLR2A	chr11:17097795-17100238	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:17097411-17100595	Hela-S3	cervix:	n/a	n/a
33	HEY1	chr11:17097750-17100479	K562	blood:	n/a	chr11:17099680-17099695
34	POLR2A	chr11:17092645-17100693	SK-N-MC	brain:	n/a	n/a
35	POLR2A	chr11:17097965-17098644	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr11:17097001-17100064	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr11:17097513-17098571	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16804738..16808801-chr11:17097608..17100627,5	K562	blood:
2	chr11:16759714..16761562-chr11:17097936..17099803,2	K562	blood:
3	chr11:16837352..16839360-chr11:17097590..17099219,2	MCF-7	breast:
4	chr11:16759714..16762827-chr11:17097720..17101099,4	K562	blood:
5	chr11:17097827..17101102-chr11:17296839..17299555,4	K562	blood:
6	chr11:17097769..17100478-chr3:143690055..143692307,2	MCF-7	breast:
7	chr11:17094939..17099575-chr11:17373026..17376765,6	K562	blood:
8	chr11:17097070..17101102-chr11:17296326..17299484,3	K562	blood:
9	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:
10	chr11:17096429..17100576-chr11:17227768..17230724,6	K562	blood:
11	chr11:17097925..17098426-chr12:6645032..6645989,2	Hela-S3	cervix:
12	chr11:16902656..16905634-chr11:17097144..17099414,2	MCF-7	breast:
13	chr11:17097208..17101887-chr11:17227768..17230798,9	K562	blood:
14	chr11:17097048..17102595-chr11:17228016..17231208,7	MCF-7	breast:
15	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
ENSG00000011405	Chromatin interaction
ENSG00000181744	Chromatin interaction
ENSG00000184669	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000110693	Chromatin interaction
ENSG00000110696	Chromatin interaction
ENSG00000166689	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11822493	1.00[AMR][1000 genomes]
rs11824930	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827369	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3168295	1.00[AMR][1000 genomes]
rs59205361	1.00[AMR][1000 genomes]
rs61762008	1.00[AMR][1000 genomes]
rs61762012	1.00[AMR][1000 genomes]
rs7126409	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7126602	1.00[AMR][1000 genomes]
rs7129134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130328	1.00[AMR][1000 genomes]
rs73431296	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73431299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73433220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73433223	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73433232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73433242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73435334	1.00[AMR][1000 genomes]
rs73435367	1.00[AMR][1000 genomes]
rs7933318	0.94[AFR][1000 genomes];1.00[AMR][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

No data

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	chr11:17092200-17098200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:17092200-17098200	Weak transcription	Aorta	Aorta
4	chr11:17095000-17098200	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr11:17095600-17098600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
6	chr11:17096000-17099000	Transcr. at gene 5' and 3'	A549	lung
7	chr11:17096200-17098800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:17096200-17099200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
9	chr11:17096400-17098200	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr11:17096400-17098800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:17096600-17098400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:17096600-17098800	Transcr. at gene 5' and 3'	K562	blood
13	chr11:17096800-17098400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:17097000-17098600	Transcr. at gene 5' and 3'	HMEC	breast
15	chr11:17097000-17098800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr11:17097000-17099200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
17	chr11:17097200-17098200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:17097200-17098200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:17097200-17098200	Enhancers	Stomach Mucosa	stomach
20	chr11:17097200-17098400	Genic enhancers	Spleen	Spleen
21	chr11:17097200-17098600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
22	chr11:17097200-17098600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
23	chr11:17097200-17098600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:17097200-17098600	Transcr. at gene 5' and 3'	NHLF	lung
25	chr11:17097200-17098800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
26	chr11:17097200-17098800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
27	chr11:17097200-17098800	Transcr. at gene 5' and 3'	Hela-S3	cervix
28	chr11:17097200-17098800	Transcr. at gene 5' and 3'	NHEK	skin
29	chr11:17097200-17099200	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr11:17097200-17100000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:17097200-17100400	Active TSS	Right Ventricle	heart
32	chr11:17097400-17098200	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:17097400-17098200	Enhancers	Brain Substantia Nigra	brain
34	chr11:17097400-17098200	Enhancers	Fetal Heart	heart
35	chr11:17097400-17098200	Enhancers	Gastric	stomach
36	chr11:17097400-17098400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:17097400-17098600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:17097400-17098600	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr11:17097400-17098600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17097600-17098200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:17097600-17098200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:17097600-17098200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:17097600-17098200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:17097600-17098200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:17097600-17098200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr11:17097600-17098200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr11:17097600-17098200	Enhancers	Fetal Brain Male	brain
48	chr11:17097600-17098200	Weak transcription	Fetal Kidney	kidney
49	chr11:17097600-17098200	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr11:17097600-17098200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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