Variant report

Variant	nsv520119
Chromosome Location	chr11:24618295-24622149
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	chr11:24614743..24616666-chr11:24619987..24622477,2	K562	blood:

Extended variants
information (count: 125 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16912906	chr11:24618295-24618296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs546739147	chr11:24618298-24618299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182107100	chr11:24618320-24618321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568107394	chr11:24618329-24618330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34580681	chr11:24618354-24618355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12279651	chr11:24618366-24618367	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs12292743	chr11:24618375-24618376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576889834	chr11:24618383-24618384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76235045	chr11:24618418-24618419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12279761	chr11:24618437-24618438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144003463	chr11:24618470-24618471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79430665	chr11:24618475-24618476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116663813	chr11:24618482-24618483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574525547	chr11:24618503-24618504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536943279	chr11:24618508-24618509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555673089	chr11:24618509-24618510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186700397	chr11:24618528-24618529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114625571	chr11:24618567-24618568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374238715	chr11:24618603-24618604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148242564	chr11:24618665-24618666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10500984	chr11:24618666-24618667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78682489	chr11:24618725-24618726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550913224	chr11:24618774-24618775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367882211	chr11:24618792-24618793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192325538	chr11:24618812-24618813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184708452	chr11:24618815-24618816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11603159	chr11:24618825-24618826	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374399503	chr11:24618847-24618848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73433021	chr11:24618882-24618883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188364425	chr11:24618891-24618892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193194528	chr11:24618899-24618900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575463889	chr11:24618954-24618955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559153568	chr11:24618972-24618973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12293085	chr11:24618979-24618980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs184682493	chr11:24618980-24618981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77328028	chr11:24619004-24619005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2896708	chr11:24619029-24619030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189951845	chr11:24619044-24619045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577158729	chr11:24619068-24619069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546027279	chr11:24619144-24619145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142923450	chr11:24619166-24619167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147430623	chr11:24619192-24619193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139500881	chr11:24619204-24619205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548428022	chr11:24619207-24619208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11028042	chr11:24619222-24619223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181352792	chr11:24619227-24619228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527595892	chr11:24619229-24619230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183668965	chr11:24619288-24619289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115959777	chr11:24619292-24619293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188324525	chr11:24619356-24619357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
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
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24616000-24620000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:24617800-24620000	Weak transcription	Fetal Heart	heart
3	chr11:24619200-24620800	Enhancers	Brain Germinal Matrix	brain
4	chr11:24620000-24620600	Enhancers	Brain Substantia Nigra	brain
5	chr11:24620000-24620800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:24620000-24621200	Enhancers	Fetal Heart	heart

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