Variant report

Variant	esv3492053
Chromosome Location	chr11:17209266-17211065
allele	n/a
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	ARID3A	chr11:17208257-17209406	K562	blood:	n/a	n/a
2	CTCF	chr11:17210476-17210525	GM13977	blood:	n/a	n/a
3	CTCF	chr11:17210432-17210541	A549	lung:	n/a	n/a
4	CTCF	chr11:17210320-17210470	HMF	breast:	n/a	n/a
5	CTCF	chr11:17210428-17210541	GM12892	blood:	n/a	n/a
6	CTCF	chr11:17210435-17210503	Gliobla	brain:	n/a	n/a
7	CTCF	chr11:17210400-17210550	HRPEpiC	eye:	n/a	n/a
8	CTCF	chr11:17210380-17210530	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr11:17209800-17209950	GM12869	blood:	n/a	n/a
10	CTCF	chr11:17210360-17210510	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr11:17210400-17210550	HCPEpiC	choroid plexus:	n/a	n/a
12	CTCF	chr11:17210380-17210530	AG10803	skin:	n/a	n/a
13	CTCF	chr11:17210360-17210510	GM12878	blood:	n/a	n/a
14	CTCF	chr11:17210417-17210519	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr11:17210380-17210530	HVMF	connective:	n/a	n/a
16	CTCF	chr11:17210466-17210487	MCF-7	breast:	n/a	n/a
17	CTCF	chr11:17210360-17210510	HCPEpiC	choroid plexus:	n/a	n/a
18	CTCF	chr11:17210454-17210515	GM13976	blood:	n/a	n/a
19	CTCF	chr11:17210360-17210510	GM12864	blood:	n/a	n/a
20	CTCF	chr11:17210360-17210510	HMF	breast:	n/a	n/a
21	CTCF	chr11:17210380-17210530	BJ	skin:	n/a	n/a
22	CTCF	chr11:17210313-17210629	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr11:17210500-17210650	HCM	heart:	n/a	n/a
24	CTCF	chr11:17210468-17210514	GM19239	blood:	n/a	n/a
25	CTCF	chr11:17210442-17210516	Fibrobl	skin:	n/a	n/a
26	CTCF	chr11:17210560-17210710	GM12866	blood:	n/a	n/a
27	CTCF	chr11:17210439-17210515	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr11:17210480-17210630	GM12871	blood:	n/a	n/a
29	CTCF	chr11:17210410-17210550	GM12878	blood:	n/a	n/a
30	CTCF	chr11:17210368-17210559	K562	blood:	n/a	n/a
31	CTCF	chr11:17210403-17210561	ProgFib	skin:	n/a	n/a
32	CTCF	chr11:17210435-17210533	NHEK	skin:	n/a	n/a
33	CTCF	chr11:17210426-17210507	HepG2	liver:	n/a	n/a
34	CTCF	chr11:17210400-17210550	BJ	skin:	n/a	n/a
35	CTCF	chr11:17210425-17210545	K562	blood:	n/a	n/a
36	CTCF	chr11:17210340-17210490	HVMF	connective:	n/a	n/a
37	CUX1	chr11:17209285-17209417	GM12878	blood:	n/a	n/a
38	GATA1	chr11:17208430-17209665	K562	blood:	n/a	chr11:17208867-17208877 chr11:17208822-17208832
39	IRF1	chr11:17207997-17209351	K562	blood:	n/a	chr11:17209152-17209166 chr11:17209096-17209108 chr11:17209095-17209109 chr11:17208734-17208748 chr11:17209096-17209108 chr11:17208738-17208752
40	IRF1	chr11:17208372-17209401	K562	blood:	n/a	chr11:17209152-17209166 chr11:17209096-17209108 chr11:17209095-17209109 chr11:17208734-17208748 chr11:17209096-17209108 chr11:17208738-17208752
41	POLR2A	chr11:17210875-17211049	HepG2	liver:	n/a	n/a
42	RAD21	chr11:17210312-17210625	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr11:17210180-17210614	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr11:17210290-17210598	H1-hESC	embryonic stem cell:	n/a	n/a
45	TAL1	chr11:17208177-17209376	K562	blood:	n/a	chr11:17208723-17208741
46	TEAD4	chr11:17210222-17210681	H1-hESC	embryonic stem cell:	n/a	n/a
47	TEAD4	chr11:17210240-17210642	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr11:17210264-17210661	H1-hESC	embryonic stem cell:	n/a	n/a

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

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

Extended variants
information (count: 53 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138433573	chr11:17209281-17209282	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544212001	chr11:17209301-17209302	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369860179	chr11:17209313-17209314	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113226661	chr11:17209351-17209352	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149278139	chr11:17209436-17209437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540456281	chr11:17209447-17209448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564056202	chr11:17209486-17209487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143507915	chr11:17209489-17209490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147971784	chr11:17209496-17209497	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565157967	chr11:17209534-17209535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12283197	chr11:17209566-17209567	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532341028	chr11:17209593-17209594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577639737	chr11:17209601-17209602	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12270107	chr11:17209623-17209624	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371880240	chr11:17209654-17209655	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551969396	chr11:17209702-17209703	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563209838	chr11:17209706-17209707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs530606560	chr11:17209837-17209838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs118162706	chr11:17209838-17209839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566914947	chr11:17209844-17209845	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534362663	chr11:17209849-17209850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375214765	chr11:17209859-17209860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs546441382	chr11:17209867-17209868	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386751079	chr11:17209878-17209879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571216863	chr11:17209880-17209881	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538419908	chr11:17209897-17209898	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373196018	chr11:17209899-17209900	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557139489	chr11:17209948-17209949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs476890	chr11:17209962-17209963	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs560028498	chr11:17209972-17209973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530111641	chr11:17209993-17209994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182371164	chr11:17209998-17209999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs537535208	chr11:17210019-17210020	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189753936	chr11:17210155-17210156	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574038452	chr11:17210332-17210333	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143426275	chr11:17210347-17210348	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs615358	chr11:17210432-17210433	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs578213647	chr11:17210480-17210481	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs615424	chr11:17210481-17210482	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs11024185	chr11:17210548-17210549	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530872436	chr11:17210587-17210588	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs147206224	chr11:17210589-17210590	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542310163	chr11:17210613-17210614	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs560652576	chr11:17210652-17210653	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs373751847	chr11:17210705-17210706	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528038061	chr11:17210817-17210818	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs570801033	chr11:17210844-17210845	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546203374	chr11:17210880-17210881	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376355470	chr11:17210890-17210891	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs571421465	chr11:17210899-17210900	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	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:167 , 50 per page) page: 1 2 3 4

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	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:17191200-17213000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:17191200-17213000	Weak transcription	Dnd41	blood
28	chr11:17191200-17227800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:17191400-17212800	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr11:17191400-17213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:17191400-17214400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:17191600-17212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:17191800-17212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:17191800-17212800	Weak transcription	Fetal Kidney	kidney
35	chr11:17192000-17214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr11:17192400-17214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:17192400-17217800	Weak transcription	Stomach Mucosa	stomach
38	chr11:17193200-17212400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:17193800-17213000	Weak transcription	NH-A	brain
40	chr11:17194000-17209800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:17194000-17210200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:17194000-17212400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:17194000-17212400	Weak transcription	Hela-S3	cervix
44	chr11:17194000-17212600	Weak transcription	Placenta	Placenta
45	chr11:17194000-17212800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:17194000-17212800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:17194000-17212800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:17194000-17212800	Weak transcription	Ovary	ovary
49	chr11:17194000-17212800	Weak transcription	Right Atrium	heart
50	chr11:17194000-17212800	Weak transcription	Osteobl	bone

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