Variant report

Variant	esv3416917
Chromosome Location	chr11:101074242-101079240
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	POLR2A	chr11:101078422-101078498	MCF10A-Er-Src	breast:	n/a	n/a
2	RFX5	chr11:101078922-101078977	K562	blood:	n/a	n/a
3	ZNF143	chr11:101075333-101075436	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000255504	TF binding region

Extended variants
information (count: 193 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:193 , 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	rs113477807	chr11:101074251-101074252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574961182	chr11:101074252-101074253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373621038	chr11:101074257-101074258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564007453	chr11:101074263-101074264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10895074	chr11:101074331-101074332	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs530126179	chr11:101074381-101074382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12365765	chr11:101074403-101074404	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12366080	chr11:101074423-101074424	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530847834	chr11:101074435-101074436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183247681	chr11:101074479-101074480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200159599	chr11:101074495-101074496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12361300	chr11:101074529-101074530	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12361308	chr11:101074556-101074557	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs546279983	chr11:101074560-101074561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566278495	chr11:101074563-101074564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12226729	chr11:101074568-101074569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12361309	chr11:101074586-101074587	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12364289	chr11:101074604-101074605	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538555899	chr11:101074617-101074618	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551985563	chr11:101074630-101074631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571639796	chr11:101074649-101074650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115470322	chr11:101074667-101074668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540873671	chr11:101074744-101074745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560545906	chr11:101074755-101074756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577301138	chr11:101074774-101074775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545843305	chr11:101074791-101074792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562922264	chr11:101074796-101074797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs80110623	chr11:101074815-101074816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188902150	chr11:101074853-101074854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192498305	chr11:101074864-101074865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72976161	chr11:101074890-101074891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541118381	chr11:101074918-101074919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374797643	chr11:101074919-101074920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560888623	chr11:101074926-101074927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567622747	chr11:101074940-101074941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529837087	chr11:101074945-101074946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138204081	chr11:101074954-101074955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142458343	chr11:101074963-101074964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77721329	chr11:101074990-101074991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77918824	chr11:101075023-101075024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77430574	chr11:101075025-101075026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538744449	chr11:101075042-101075043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78965231	chr11:101075057-101075058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75851001	chr11:101075077-101075078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549065518	chr11:101075107-101075108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368919936	chr11:101075123-101075124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184469768	chr11:101075126-101075127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372919498	chr11:101075184-101075185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189712134	chr11:101075256-101075257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537481596	chr11:101075277-101075278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal cancer	21851588	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101037400-101080800	Weak transcription	Left Ventricle	heart
2	chr11:101070800-101082200	Weak transcription	Aorta	Aorta
3	chr11:101073800-101074800	Strong transcription	Ovary	ovary
4	chr11:101074800-101080200	Weak transcription	Ovary	ovary
5	chr11:101078800-101080800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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