Variant report

Variant	nsv518463
Chromosome Location	chr11:120023505-120026748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120014929..120017007-chr11:120025369..120027971,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12802402	chr11:120023505-120023506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs148319545	chr11:120023563-120023564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192806903	chr11:120023596-120023597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369325693	chr11:120023612-120023613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575499714	chr11:120023720-120023721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542638831	chr11:120023738-120023739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533607312	chr11:120023739-120023740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560877226	chr11:120023751-120023752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184123369	chr11:120023817-120023818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545703070	chr11:120023872-120023873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564094050	chr11:120023920-120023921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565302630	chr11:120023926-120023927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532723470	chr11:120023928-120023929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550920369	chr11:120023941-120023942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569531215	chr11:120024075-120024076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567118211	chr11:120024119-120024120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371783777	chr11:120024147-120024148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548136154	chr11:120024152-120024153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs566527481	chr11:120024155-120024156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534000044	chr11:120024161-120024162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117748522	chr11:120025602-120025603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138669761	chr11:120025613-120025614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145942709	chr11:120025792-120025793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536428808	chr11:120025873-120025874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554849985	chr11:120025928-120025929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566762861	chr11:120025964-120025965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564436231	chr11:120025968-120025969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs117069286	chr11:120025974-120025975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371767601	chr11:120025993-120025994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115420260	chr11:120026018-120026019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371194895	chr11:120026051-120026052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544259380	chr11:120026052-120026053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77521025	chr11:120026064-120026065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555968115	chr11:120026084-120026085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574241052	chr11:120026203-120026204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184587544	chr11:120026221-120026222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs659912	chr11:120026241-120026242	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562040513	chr11:120026268-120026269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs470373	chr11:120026271-120026272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs190259142	chr11:120026310-120026311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548777711	chr11:120026320-120026321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564471627	chr11:120026343-120026344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181569932	chr11:120026359-120026360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60813344	chr11:120026377-120026378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537879839	chr11:120026404-120026405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570585616	chr11:120026487-120026488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529448455	chr11:120026501-120026502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548362956	chr11:120026539-120026540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559754495	chr11:120026555-120026556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2084897	chr11:120026600-120026601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:108)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120019000-120023600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120019800-120023800	Weak transcription	HMEC	breast
3	chr11:120023600-120024200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:120023800-120024200	Enhancers	HMEC	breast
5	chr11:120025600-120027200	Weak transcription	Aorta	Aorta

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