Variant report

Variant	nsv975904
Chromosome Location	chr11:36685912-36702352
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	chr11:36679095..36680749-chr11:36687022..36689455,2	K562	blood:

Extended variants
information (count: 647 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:647 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207471776	chr11:36685925-36685926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74341239	chr11:36685926-36685927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34601208	chr11:36685945-36685946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558202313	chr11:36685967-36685968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578047170	chr11:36685972-36685973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376319461	chr11:36685973-36685974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145351097	chr11:36685977-36685978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574385850	chr11:36685998-36685999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558814603	chr11:36686026-36686027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117727683	chr11:36686034-36686035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531960378	chr11:36686066-36686067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373578049	chr11:36686110-36686111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545294836	chr11:36686136-36686137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564953322	chr11:36686167-36686168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182761736	chr11:36686211-36686212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147656499	chr11:36686220-36686221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566963931	chr11:36686292-36686293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187831471	chr11:36686357-36686358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193134999	chr11:36686431-36686432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76992376	chr11:36686434-36686435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184621380	chr11:36686476-36686477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1566244	chr11:36686494-36686495	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368745093	chr11:36686549-36686550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558483769	chr11:36686612-36686613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571671037	chr11:36686622-36686623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78775215	chr11:36686644-36686645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187633723	chr11:36686714-36686715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73439933	chr11:36686788-36686789	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111562406	chr11:36686831-36686832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541084306	chr11:36686833-36686834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574117573	chr11:36686840-36686841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142474708	chr11:36686846-36686847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35651385	chr11:36686940-36686941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144715770	chr11:36686966-36686967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576671841	chr11:36686996-36686997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532909447	chr11:36687015-36687016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192151867	chr11:36687026-36687027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184191358	chr11:36687033-36687034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374010920	chr11:36687035-36687036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540758659	chr11:36687051-36687052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560523422	chr11:36687117-36687118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151306805	chr11:36687132-36687133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563326805	chr11:36687158-36687159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140544480	chr11:36687194-36687195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563559595	chr11:36687203-36687204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532310548	chr11:36687232-36687233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188547606	chr11:36687261-36687262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111566773	chr11:36687264-36687265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564444503	chr11:36687276-36687277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565779678	chr11:36687338-36687339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
Gastric cancer	17908304	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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:36666800-36692800	Weak transcription	Fetal Heart	heart
3	chr11:36679600-36687000	Weak transcription	K562	blood
4	chr11:36682000-36686200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:36682200-36687600	Weak transcription	Liver	Liver
6	chr11:36687600-36687800	ZNF genes & repeats	Liver	Liver
7	chr11:36687800-36690000	ZNF genes & repeats	Dnd41	blood
8	chr11:36689600-36689800	Enhancers	K562	blood
9	chr11:36690000-36694400	Weak transcription	Dnd41	blood
10	chr11:36692800-36693600	Enhancers	Fetal Heart	heart
11	chr11:36694400-36696000	ZNF genes & repeats	Dnd41	blood
12	chr11:36694600-36695200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:36695000-36695800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:36695200-36695800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:36695200-36695800	ZNF genes & repeats	Fetal Stomach	stomach
16	chr11:36696000-36701200	Weak transcription	Dnd41	blood
17	chr11:36701200-36702000	ZNF genes & repeats	Thymus	Thymus
18	chr11:36701200-36702600	ZNF genes & repeats	Dnd41	blood
19	chr11:36702000-36703000	Weak transcription	Thymus	Thymus

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