Variant report

Variant	nsv897099
Chromosome Location	chr11:24783183-24814076
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:24809134..24811557-chr11:24813025..24815138,2	MCF-7	breast:
2	chr11:24801274..24801786-chr11:25755056..25755745,2	MCF-7	breast:
3	chr11:24802835..24803539-chr11:25755478..25755981,2	MCF-7	breast:
4	chr11:24809134..24811557-chr11:24813025..24815138,2	MCF-7	breast:
5	chr11:24802681..24803507-chr11:25755699..25756641,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254456	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:184 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2716530	chr11:24783183-24783184	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570392882	chr11:24788812-24788813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572812704	chr11:24788834-24788835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552622896	chr11:24788859-24788860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569406091	chr11:24788881-24788882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368451674	chr11:24788883-24788884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539900601	chr11:24788884-24788885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372845112	chr11:24788904-24788905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187538367	chr11:24788905-24788906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7934614	chr11:24788929-24788930	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76975805	chr11:24788983-24788984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568219339	chr11:24789007-24789008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs145818930	chr11:24789011-24789012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538239690	chr11:24789029-24789030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553743114	chr11:24789034-24789035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563948042	chr11:24789047-24789048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2631409	chr11:24789050-24789051	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs539688052	chr11:24789057-24789058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556197032	chr11:24789063-24789064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576143840	chr11:24789067-24789068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542048093	chr11:24789101-24789102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12287149	chr11:24789118-24789119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs568773145	chr11:24789157-24789158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556253913	chr11:24789171-24789172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191601961	chr11:24789193-24789194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535648476	chr11:24789268-24789269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77190564	chr11:24789288-24789289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12280401	chr11:24789316-24789317	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182644164	chr11:24789379-24789380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12280356	chr11:24789395-24789396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531745193	chr11:24789400-24789401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79579871	chr11:24795011-24795012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528412965	chr11:24795042-24795043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551548124	chr11:24795060-24795061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559503387	chr11:24795089-24795090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542021109	chr11:24795093-24795094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs184773951	chr11:24795125-24795126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11827414	chr11:24795126-24795127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138314700	chr11:24795139-24795140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373410171	chr11:24795143-24795144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550284739	chr11:24795146-24795147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2631406	chr11:24795174-24795175	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs536257034	chr11:24795175-24795176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552737170	chr11:24795232-24795233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2716539	chr11:24795275-24795276	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145125569	chr11:24795282-24795283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558370011	chr11:24795283-24795284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374238485	chr11:24795291-24795292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551510086	chr11:24795342-24795343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116908807	chr11:24795370-24795371	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24782800-24783200	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:24788800-24789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:24795000-24795400	Enhancers	Hela-S3	cervix
4	chr11:24803000-24804200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:24803000-24805600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:24803200-24804000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:24803200-24804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr11:24803400-24803800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr11:24803400-24804000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:24803400-24804200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:24803400-24804200	Enhancers	Fetal Intestine Large	intestine
12	chr11:24803600-24805200	Enhancers	Fetal Heart	heart
13	chr11:24803800-24804200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:24803800-24804400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:24804000-24805200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:24804200-24805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:24804200-24805200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:24804200-24805400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:24805200-24805400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:24805200-24805600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:24805200-24805600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:24805200-24805600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:24805400-24805600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:24805600-24805800	Enhancers	H1 Cell Line	embryonic stem cell

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