Variant report

Variant	nsv975909
Chromosome Location	chr11:48290376-48294206
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	chr11:48292794..48294613-chr11:48297509..48299435,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532790265	chr11:48293405-48293406	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs115526670	chr11:48293413-48293414	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs7484031	chr11:48293468-48293469	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531093043	chr11:48293502-48293503	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs116345138	chr11:48293503-48293504	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs7481374	chr11:48293530-48293531	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs151227423	chr11:48293534-48293535	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs547049070	chr11:48293547-48293548	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs566836168	chr11:48293549-48293550	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs534936196	chr11:48293580-48293581	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs557993725	chr11:48293586-48293587	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs577854008	chr11:48293589-48293590	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs571757334	chr11:48293611-48293612	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs537301385	chr11:48293626-48293627	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs556857834	chr11:48293643-48293644	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs140378084	chr11:48293666-48293667	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376027304	chr11:48293667-48293668	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs553328902	chr11:48293684-48293685	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs542283167	chr11:48293693-48293694	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs558946333	chr11:48293706-48293707	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs369601898	chr11:48293712-48293713	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs537574494	chr11:48293721-48293722	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs137899758	chr11:48293737-48293738	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs545304085	chr11:48293774-48293775	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs565612387	chr11:48293798-48293799	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs117763203	chr11:48293825-48293826	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs551181974	chr11:48293876-48293877	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs561305913	chr11:48293920-48293921	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs530231128	chr11:48293930-48293931	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs11039627	chr11:48293931-48293932	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs182520599	chr11:48293932-48293933	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs539078913	chr11:48293940-48293941	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs535705251	chr11:48293974-48293975	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs142114838	chr11:48293982-48293983	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs117274651	chr11:48294037-48294038	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs370999769	chr11:48294062-48294063	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs536933241	chr11:48294072-48294073	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs557135730	chr11:48294073-48294074	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs573474448	chr11:48294076-48294077	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs535946810	chr11:48294077-48294078	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs552609948	chr11:48294081-48294082	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs116419081	chr11:48294109-48294110	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs544946666	chr11:48294114-48294115	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs187168223	chr11:48294177-48294178	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs145875208	chr11:48294183-48294184	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	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
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48293400-48294200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
2	chr11:48293600-48294200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr11:48294000-48294400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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