Variant report

Variant	esv3376966
Chromosome Location	chr11:51475401-51478424
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	chr11:51477641-51477694	Medullo	brain:	n/a	n/a
2	CTCF	chr11:51477614-51477680	GM20000	blood:	n/a	n/a
3	CTCF	chr11:51477102-51477177	Lung_OC	lung:	n/a	n/a
4	CTCF	chr11:51477834-51477851	GM20000	blood:	n/a	n/a
5	CTCF	chr11:51477856-51477879	GM20000	blood:	n/a	n/a
6	POLR2A	chr11:51477580-51477618	A549	lung:	n/a	n/a
7	POLR2A	chr11:51477218-51477407	A549	lung:	n/a	n/a

Variant related genes	Relation type
OR4C7P	TF binding region

Extended variants
information (count: 88 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187309578	chr11:51475461-51475462	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs551603162	chr11:51475463-51475464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs189723890	chr11:51475482-51475483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs111733275	chr11:51475484-51475485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs573190985	chr11:51475502-51475503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571566117	chr11:51475503-51475504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187709258	chr11:51475537-51475538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs7117992	chr11:51475551-51475552	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11246579	chr11:51475552-51475553	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs533917524	chr11:51475631-51475632	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs144049446	chr11:51475637-51475638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs147324864	chr11:51475638-51475639	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537603640	chr11:51475654-51475655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367844052	chr11:51475661-51475662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs193263580	chr11:51475664-51475665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs141060117	chr11:51475690-51475691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368983086	chr11:51475700-51475701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs560504208	chr11:51475710-51475711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs141135628	chr11:51475717-51475718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543128634	chr11:51475721-51475722	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs561191711	chr11:51475726-51475727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs531939747	chr11:51475754-51475755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs185720761	chr11:51475756-51475757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188647592	chr11:51475776-51475777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs548676075	chr11:51475784-51475785	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs372054930	chr11:51475807-51475808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs192958206	chr11:51475808-51475809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs513950	chr11:51475820-51475821	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs6598111	chr11:51475826-51475827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs183920527	chr11:51475865-51475866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201278309	chr11:51475877-51475878	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs555155875	chr11:51475904-51475905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188601615	chr11:51475907-51475908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs537937418	chr11:51475908-51475909	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527859748	chr11:51475928-51475929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs7125291	chr11:51475936-51475937	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577894590	chr11:51475976-51475977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570803229	chr11:51475977-51475978	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs538961871	chr11:51475997-51475998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576750221	chr11:51477211-51477212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540786440	chr11:51477227-51477228	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375834818	chr11:51477242-51477243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537283349	chr11:51477271-51477272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs148614805	chr11:51477272-51477273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564344081	chr11:51477275-51477276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs563135982	chr11:51477276-51477277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs530751392	chr11:51477296-51477297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs556963864	chr11:51477304-51477305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552033374	chr11:51477305-51477306	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs570535166	chr11:51477315-51477316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51475200-51476000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:51477200-51477800	ZNF genes & repeats	Adipose Nuclei	Adipose

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