Variant report

Variant	nsv442240
Chromosome Location	chr11:93698056-93701592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93700752..93703504-chr11:93704529..93706599,2	K562	blood:
2	chr11:93700458..93703504-chr11:93704523..93708049,5	K562	blood:
3	chr11:93698163..93699732-chr11:93702050..93703572,2	K562	blood:
4	chr11:93699154..93702139-chr11:93715372..93717196,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569218422	chr11:93700228-93700229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371297659	chr11:93700257-93700258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536570409	chr11:93700259-93700260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555264591	chr11:93700318-93700319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191842404	chr11:93700335-93700336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200291642	chr11:93700342-93700343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560937349	chr11:93700356-93700357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559194435	chr11:93700405-93700406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577855546	chr11:93700440-93700441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545074327	chr11:93700445-93700446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377685121	chr11:93700484-93700485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369827317	chr11:93700491-93700492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11421401	chr11:93700538-93700539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11452322	chr11:93700539-93700540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs398039579	chr11:93700559-93700560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575218286	chr11:93700627-93700628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542225063	chr11:93700628-93700629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560857900	chr11:93700637-93700638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528322421	chr11:93700672-93700673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540083239	chr11:93700701-93700702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183564063	chr11:93700712-93700713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186568933	chr11:93700732-93700733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529995808	chr11:93700764-93700765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114669193	chr11:93700782-93700783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2511393	chr11:93700826-93700827	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs548560817	chr11:93700837-93700838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149326805	chr11:93700897-93700898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16919665	chr11:93700919-93700920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs143585595	chr11:93700927-93700928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550250343	chr11:93700945-93700946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78411017	chr11:93700968-93700969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115216496	chr11:93700976-93700977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148040001	chr11:93700981-93700982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141750641	chr11:93701042-93701043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552478164	chr11:93701049-93701050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs116711970	chr11:93701056-93701057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145995712	chr11:93701067-93701068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2456558	chr11:93701105-93701106	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs76370340	chr11:93701134-93701135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192393478	chr11:93701178-93701179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566401580	chr11:93701200-93701201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535335794	chr11:93701216-93701217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139888520	chr11:93701217-93701218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544040738	chr11:93701224-93701225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185537724	chr11:93701225-93701226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141634484	chr11:93701248-93701249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548646184	chr11:93701258-93701259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560486950	chr11:93701283-93701284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368126225	chr11:93701329-93701330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371945268	chr11:93701331-93701332	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93700200-93701400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:93701400-93701800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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