Variant report

Variant	esv3492050
Chromosome Location	chr11:17208176-17212624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:114)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:114 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17208257-17209406	K562	blood:	n/a	n/a
2	ATF1	chr11:17208539-17208866	K562	blood:	n/a	n/a
3	BHLHE40	chr11:17208483-17208824	K562	blood:	n/a	n/a
4	CBX3	chr11:17208403-17208948	K562	blood:	n/a	n/a
5	CCNT2	chr11:17208428-17208943	K562	blood:	n/a	chr11:17208723-17208743
6	CEBPB	chr11:17208421-17208897	K562	blood:	n/a	n/a
7	CEBPB	chr11:17208523-17208870	K562	blood:	n/a	n/a
8	CEBPD	chr11:17208351-17209038	K562	blood:	n/a	n/a
9	CEBPD	chr11:17208321-17209051	K562	blood:	n/a	n/a
10	CREB1	chr11:17208359-17209005	K562	blood:	n/a	n/a
11	CTCF	chr11:17210360-17210510	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr11:17210435-17210503	Gliobla	brain:	n/a	n/a
13	CTCF	chr11:17210468-17210514	GM19239	blood:	n/a	n/a
14	CTCF	chr11:17210380-17210530	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr11:17209800-17209950	GM12869	blood:	n/a	n/a
16	CTCF	chr11:17210560-17210710	GM12866	blood:	n/a	n/a
17	CTCF	chr11:17210313-17210629	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:17210360-17210510	GM12878	blood:	n/a	n/a
19	CTCF	chr11:17210380-17210530	AG10803	skin:	n/a	n/a
20	CTCF	chr11:17210432-17210541	A549	lung:	n/a	n/a
21	CTCF	chr11:17210400-17210550	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr11:17210428-17210541	GM12892	blood:	n/a	n/a
23	CTCF	chr11:17210380-17210530	BJ	skin:	n/a	n/a
24	CTCF	chr11:17210466-17210487	MCF-7	breast:	n/a	n/a
25	CTCF	chr11:17210340-17210490	HVMF	connective:	n/a	n/a
26	CTCF	chr11:17210320-17210470	HMF	breast:	n/a	n/a
27	CTCF	chr11:17210426-17210507	HepG2	liver:	n/a	n/a
28	CTCF	chr11:17210500-17210650	HCM	heart:	n/a	n/a
29	CTCF	chr11:17210410-17210550	GM12878	blood:	n/a	n/a
30	CTCF	chr11:17210400-17210550	BJ	skin:	n/a	n/a
31	CTCF	chr11:17210476-17210525	GM13977	blood:	n/a	n/a
32	CTCF	chr11:17210403-17210561	ProgFib	skin:	n/a	n/a
33	CTCF	chr11:17210360-17210510	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr11:17210417-17210519	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:17210454-17210515	GM13976	blood:	n/a	n/a
36	CTCF	chr11:17210442-17210516	Fibrobl	skin:	n/a	n/a
37	CTCF	chr11:17210480-17210630	GM12871	blood:	n/a	n/a
38	CTCF	chr11:17210368-17210559	K562	blood:	n/a	n/a
39	CTCF	chr11:17210360-17210510	HMF	breast:	n/a	n/a
40	CTCF	chr11:17210360-17210510	GM12864	blood:	n/a	n/a
41	CTCF	chr11:17210435-17210533	NHEK	skin:	n/a	n/a
42	CTCF	chr11:17210380-17210530	HVMF	connective:	n/a	n/a
43	CTCF	chr11:17210439-17210515	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr11:17210400-17210550	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr11:17210425-17210545	K562	blood:	n/a	n/a
46	CUX1	chr11:17208576-17208917	K562	blood:	n/a	n/a
47	CUX1	chr11:17209285-17209417	GM12878	blood:	n/a	n/a
48	CUX1	chr11:17212262-17212562	K562	blood:	n/a	n/a
49	EP300	chr11:17208049-17209108	K562	blood:	n/a	chr11:17208859-17208866
50	EP300	chr11:17208619-17208828	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:17201544..17204843-chr11:17207859..17210741,3	K562	blood:
2	chr11:17206803..17209141-chr11:17217436..17220407,2	MCF-7	breast:
3	chr11:17200195..17203044-chr11:17207705..17210741,3	K562	blood:
4	chr11:17209348..17211957-chr11:17213326..17215244,2	K562	blood:
5	chr11:17207589..17210389-chr11:17212889..17214960,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213779	TF binding region
ENSG00000213779	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189397283	chr11:17208180-17208181	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555142179	chr11:17208195-17208196	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376391668	chr11:17208198-17208199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531771180	chr11:17208223-17208224	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550202395	chr11:17208230-17208231	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7113011	chr11:17208236-17208237	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs558795549	chr11:17208250-17208251	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192393040	chr11:17208273-17208274	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548024373	chr11:17208343-17208344	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565750394	chr11:17208344-17208345	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76032288	chr11:17208394-17208395	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557878350	chr11:17208428-17208429	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145142338	chr11:17208445-17208446	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184630556	chr11:17208519-17208520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544973371	chr11:17208549-17208550	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539330016	chr11:17208573-17208574	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573615711	chr11:17208604-17208605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540801352	chr11:17208608-17208609	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146880210	chr11:17208621-17208622	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556720511	chr11:17208629-17208630	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552797725	chr11:17208658-17208659	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552474364	chr11:17208659-17208660	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545972080	chr11:17208686-17208687	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564649426	chr11:17208699-17208700	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs586785	chr11:17208714-17208715	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543808559	chr11:17208718-17208719	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535257666	chr11:17208719-17208720	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542309033	chr11:17208722-17208723	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190129269	chr11:17208763-17208764	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181812850	chr11:17208780-17208781	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529633735	chr11:17208910-17208911	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548135274	chr11:17208911-17208912	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372153496	chr11:17208990-17208991	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186527138	chr11:17209002-17209003	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs72860760	chr11:17209049-17209050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs569744812	chr11:17209063-17209064	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567547762	chr11:17209078-17209079	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs598946	chr11:17209087-17209088	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs2079294	chr11:17209111-17209112	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140663885	chr11:17209129-17209130	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs150466558	chr11:17209134-17209135	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189667734	chr11:17209153-17209154	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552889953	chr11:17209181-17209182	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577413395	chr11:17209191-17209192	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538828955	chr11:17209217-17209218	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577818158	chr11:17209221-17209222	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs151308468	chr11:17209260-17209261	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138433573	chr11:17209281-17209282	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544212001	chr11:17209301-17209302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369860179	chr11:17209313-17209314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
2	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
6	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
7	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
8	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
9	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
11	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
12	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
16	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
17	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:17191200-17208600	Weak transcription	GM12878-XiMat	blood
21	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:17191200-17213000	Weak transcription	Dnd41	blood
29	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:17191800-17212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:17191800-17212800	Weak transcription	Fetal Kidney	kidney
36	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
39	chr11:17193200-17212400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:17193800-17213000	Weak transcription	NH-A	brain
41	chr11:17194000-17209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:17194000-17210200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:17194000-17212400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:17194000-17212400	Weak transcription	Hela-S3	cervix
45	chr11:17194000-17212600	Weak transcription	Placenta	Placenta
46	chr11:17194000-17212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:17194000-17212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:17194000-17212800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:17194000-17212800	Weak transcription	Ovary	ovary
50	chr11:17194000-17212800	Weak transcription	Right Atrium	heart

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