Variant report

Variant	nsv1042325
Chromosome Location	chr11:24399097-24432782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:23135305..23135922-chr11:24407853..24408814,4	MCF-7	breast:
2	chr11:23561652..23562153-chr11:24408342..24409000,2	MCF-7	breast:
3	chr11:23042634..23043144-chr11:24407740..24408273,2	MCF-7	breast:
4	chr11:24418176..24420457-chr11:24424313..24427106,2	MCF-7	breast:
5	chr11:24418176..24420457-chr11:24424313..24427106,2	MCF-7	breast:

Extended variants
information (count: 846 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7127372	chr11:24401600-24401601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145940023	chr11:24401658-24401659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531762629	chr11:24401681-24401682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542134474	chr11:24401683-24401684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115549049	chr11:24401742-24401743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527688418	chr11:24401808-24401809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148185727	chr11:24401817-24401818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570809749	chr11:24401837-24401838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533294121	chr11:24401846-24401847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180917313	chr11:24401923-24401924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569880795	chr11:24401945-24401946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558722504	chr11:24401946-24401947	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555701501	chr11:24401970-24401971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370829188	chr11:24402001-24402002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72875849	chr11:24402047-24402048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs534905638	chr11:24402071-24402072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557505192	chr11:24402101-24402102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577547374	chr11:24402167-24402168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371331820	chr11:24402168-24402169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543177946	chr11:24402209-24402210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12363525	chr11:24402230-24402231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186111310	chr11:24402250-24402251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576239919	chr11:24402254-24402255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541973764	chr11:24402262-24402263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137951425	chr11:24402264-24402265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562974404	chr11:24402265-24402266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564305812	chr11:24402297-24402298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200165989	chr11:24402302-24402303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529222901	chr11:24402315-24402316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561941743	chr11:24402351-24402352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368174350	chr11:24402361-24402362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367702640	chr11:24402371-24402372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541688281	chr11:24402372-24402373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564345298	chr11:24402391-24402392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554007063	chr11:24402413-24402414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141143337	chr11:24402465-24402466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550305723	chr11:24402493-24402494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570115841	chr11:24402555-24402556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572369967	chr11:24402566-24402567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549236195	chr11:24402572-24402573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565849672	chr11:24402580-24402581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534642308	chr11:24402598-24402599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558006075	chr11:24402603-24402604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1443039	chr11:24402606-24402607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564788429	chr11:24402618-24402619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11027854	chr11:24402623-24402624	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190409078	chr11:24402640-24402641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573449619	chr11:24402650-24402651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535934543	chr11:24402661-24402662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551584625	chr11:24402668-24402669	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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24401600-24402200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:24402200-24408000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:24408000-24408600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:24408400-24408600	Enhancers	Hela-S3	cervix
5	chr11:24408400-24408800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr11:24408600-24411000	Weak transcription	Hela-S3	cervix
7	chr11:24408600-24411200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:24408800-24409200	Active TSS	GM12878-XiMat	blood
9	chr11:24411000-24411400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:24411000-24411400	Flanking Active TSS	Hela-S3	cervix
11	chr11:24411200-24411400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:24411400-24412400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:24411400-24413600	Enhancers	Hela-S3	cervix
14	chr11:24412400-24412600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:24412400-24413000	Enhancers	NHEK	skin
16	chr11:24412600-24413000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:24417200-24417800	Enhancers	HUVEC	blood vessel
18	chr11:24421600-24423000	Enhancers	NHEK	skin
19	chr11:24421800-24422400	Enhancers	HMEC	breast
20	chr11:24428000-24428400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:24428200-24428800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:24429000-24430800	Enhancers	Fetal Heart	heart
23	chr11:24430800-24434200	Weak transcription	Fetal Heart	heart
24	chr11:24431200-24431400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:24431400-24440200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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