Variant report

Variant	esv3375820
Chromosome Location	chr11:4237976-4252774
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	CTCF	chr11:4240219-4240221	GM10266	blood:	n/a	n/a
2	CTCF	chr11:4240162-4240192	GM10266	blood:	n/a	n/a
3	FOXA2	chr11:4241234-4241617	A549	lung:	n/a	n/a
4	POLR2A	chr11:4249111-4249347	Gliobla	brain:	n/a	n/a
5	POLR2A	chr11:4240241-4241012	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:4249091-4249093	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000255387	TF binding region
SSU72P5	TF binding region

Extended variants
information (count: 77 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71480444	chr11:4240004-4240005	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185187296	chr11:4240014-4240015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575018158	chr11:4240019-4240020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541934203	chr11:4240034-4240035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190059806	chr11:4240070-4240071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192860869	chr11:4240096-4240097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs407469	chr11:4240101-4240102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184004754	chr11:4240133-4240134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528097859	chr11:4240135-4240136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187998666	chr11:4240156-4240157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567696950	chr11:4240247-4240248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7109901	chr11:4240329-4240330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372467578	chr11:4240349-4240350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7110862	chr11:4240359-4240360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180808636	chr11:4240378-4240379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7129665	chr11:4240380-4240381	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs420278	chr11:4240387-4240388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566742143	chr11:4240389-4240390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs374319	chr11:4240421-4240422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs447225	chr11:4240440-4240441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534061589	chr11:4240469-4240470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553428402	chr11:4240471-4240472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377500121	chr11:4240534-4240535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375228562	chr11:4240537-4240538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1809106	chr11:4240541-4240542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2412364	chr11:4240558-4240559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs513480	chr11:4240568-4240569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545959422	chr11:4240569-4240570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7111137	chr11:4240578-4240579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185257106	chr11:4240602-4240603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143933155	chr11:4240607-4240608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190553720	chr11:4240608-4240609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561388267	chr11:4240619-4240620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182257902	chr11:4240622-4240623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550656125	chr11:4240632-4240633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568833051	chr11:4240640-4240641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs1669281	chr11:4240654-4240655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186833155	chr11:4240667-4240668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556731145	chr11:4240673-4240674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566647008	chr11:4240699-4240700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534126148	chr11:4240715-4240716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2587312	chr11:4240727-4240728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568449570	chr11:4240728-4240729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7102747	chr11:4240729-4240730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557448448	chr11:4240755-4240756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575614959	chr11:4240760-4240761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539530896	chr11:4240761-4240762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs3986399	chr11:4241008-4241009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549301275	chr11:4241029-4241030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541796142	chr11:4241030-4241031	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
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
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4240000-4240600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:4240400-4240600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:4240400-4240800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:4241000-4241400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:4241200-4241400	Enhancers	HUES6 Cell Line	embryonic stem cell

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