Variant report

Variant	nsv983026
Chromosome Location	chr11:58861077-58862596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546349572	chr11:58861116-58861117	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111585068	chr11:58861146-58861147	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567906823	chr11:58861163-58861164	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535407201	chr11:58861174-58861175	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556817006	chr11:58861214-58861215	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568796311	chr11:58861234-58861235	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71454363	chr11:58861242-58861243	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72035880	chr11:58861243-58861244	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190453028	chr11:58861288-58861289	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557592253	chr11:58861292-58861293	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572851340	chr11:58861293-58861294	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375212338	chr11:58861299-58861300	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553641948	chr11:58861332-58861333	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531415329	chr11:58861347-58861348	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs542566266	chr11:58861360-58861361	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563991825	chr11:58861425-58861426	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575565676	chr11:58861477-58861478	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546149153	chr11:58861497-58861498	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564425134	chr11:58861528-58861529	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368234051	chr11:58861540-58861541	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546686822	chr11:58861573-58861574	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561574802	chr11:58861574-58861575	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529038399	chr11:58861580-58861581	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541882762	chr11:58861618-58861619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183711737	chr11:58861628-58861629	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569107542	chr11:58861658-58861659	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539067579	chr11:58861669-58861670	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562451	chr11:58861671-58861672	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188532240	chr11:58861708-58861709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146723544	chr11:58861722-58861723	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547719569	chr11:58861731-58861732	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565171926	chr11:58861820-58861821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs533919790	chr11:58861842-58861843	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555477759	chr11:58861843-58861844	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs474847	chr11:58861851-58861852	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs474850	chr11:58861854-58861855	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193249525	chr11:58861861-58861862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557390760	chr11:58861914-58861915	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575847263	chr11:58861918-58861919	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546171177	chr11:58861923-58861924	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564552416	chr11:58861933-58861934	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1786437	chr11:58861937-58861938	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540362139	chr11:58861985-58861986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549947028	chr11:58862000-58862001	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367808205	chr11:58862039-58862040	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529078097	chr11:58862075-58862076	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111984030	chr11:58862079-58862080	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112516845	chr11:58862081-58862082	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569285501	chr11:58862085-58862086	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114246615	chr11:58862086-58862087	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58858200-58869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:58860000-58862600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr11:58860000-58864600	Genic enhancers	Primary B cells from peripheral blood	blood
4	chr11:58860000-58869000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:58860600-58862600	Weak transcription	GM12878-XiMat	blood
6	chr11:58860600-58863200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr11:58860800-58862000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:58860800-58863000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr11:58861000-58861200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr11:58861000-58862000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr11:58861000-58862000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:58861000-58862000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:58861000-58862200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:58861200-58861400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:58861400-58866400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:58862000-58862200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:58862000-58862200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr11:58862000-58862200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:58862000-58863000	Enhancers	Primary B cells from cord blood	blood
20	chr11:58862000-58863200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:58862000-58863200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr11:58862000-58863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:58862200-58862400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr11:58862200-58863000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:58862200-58863000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:58862200-58863600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr11:58862400-58862800	Active TSS	iPS-20b Cell Line	embryonic stem cell

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