Variant report

Variant	esv3470108
Chromosome Location	chr11:54802951-54803767
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116777062	chr11:54802952-54802953	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545088220	chr11:54803018-54803019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs139680842	chr11:54803027-54803028	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs142028677	chr11:54803062-54803063	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs139868711	chr11:54803071-54803072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs147647124	chr11:54803072-54803073	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs3898186	chr11:54803073-54803074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2335131	chr11:54803076-54803077	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs539049104	chr11:54803082-54803083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557459741	chr11:54803090-54803091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572599559	chr11:54803091-54803092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544501468	chr11:54803098-54803099	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs146634117	chr11:54803099-54803100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs367970326	chr11:54803100-54803101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs1608412	chr11:54803106-54803107	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573707780	chr11:54803132-54803133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555044975	chr11:54803141-54803142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113979160	chr11:54803159-54803160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562603946	chr11:54803180-54803181	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs368490314	chr11:54803199-54803200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183944693	chr11:54803223-54803224	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs189306746	chr11:54803225-54803226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181936396	chr11:54803236-54803237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1851625	chr11:54803243-54803244	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs375148323	chr11:54803244-54803245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs77304149	chr11:54803247-54803248	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531777446	chr11:54803251-54803252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs185988072	chr11:54803253-54803254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76848363	chr11:54803259-54803260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs72499422	chr11:54803265-54803266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs190044620	chr11:54803267-54803268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532988540	chr11:54803284-54803285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147806943	chr11:54803296-54803297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566090377	chr11:54803297-54803298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs141310113	chr11:54803320-54803321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs28804741	chr11:54803340-54803341	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs559706374	chr11:54803361-54803362	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs182119429	chr11:54803365-54803366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs369566411	chr11:54803389-54803390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs138170302	chr11:54803393-54803394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs556447791	chr11:54803426-54803427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186264530	chr11:54803439-54803440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs191601035	chr11:54803445-54803446	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182161865	chr11:54803446-54803447	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185108808	chr11:54803447-54803448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs143733802	chr11:54803455-54803456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs190701342	chr11:54803498-54803499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs551898071	chr11:54803506-54803507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs36180379	chr11:54803513-54803514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79267394	chr11:54803533-54803534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
small cell lung cancer	20016488	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Multiple myeloma	16616336	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Alcoholism	21790672	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:54800600-54811200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:54803000-54805600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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