Variant report

Variant	nsv1039308
Chromosome Location	chr11:26529848-26555414
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	chr11:26318636..26319225-chr11:26543911..26544770,2	MCF-7	breast:
2	chr11:26544159..26545613-chr11:26671003..26672359,7	MCF-7	breast:

Extended variants
information (count: 1083 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371337106	chr11:26529859-26529860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs118181050	chr11:26529861-26529862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577138251	chr11:26529873-26529874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117136103	chr11:26529883-26529884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs294025	chr11:26529900-26529901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564399403	chr11:26529959-26529960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191832866	chr11:26529970-26529971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs118043383	chr11:26529988-26529989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568560685	chr11:26530025-26530026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538573360	chr11:26530043-26530044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549488045	chr11:26530051-26530052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117806277	chr11:26530052-26530053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117975000	chr11:26530079-26530080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558015439	chr11:26530143-26530144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12292902	chr11:26530163-26530164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73430271	chr11:26530224-26530225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376396637	chr11:26530253-26530254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200866667	chr11:26530332-26530333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574165021	chr11:26530348-26530349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs294024	chr11:26530381-26530382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117205191	chr11:26530382-26530383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575157023	chr11:26530391-26530392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117533164	chr11:26530392-26530393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548618379	chr11:26530421-26530422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35077364	chr11:26530437-26530438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144944749	chr11:26530460-26530461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567769991	chr11:26530490-26530491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs188479121	chr11:26530491-26530492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs193074507	chr11:26530588-26530589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112304483	chr11:26530612-26530613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543723913	chr11:26530618-26530619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28445502	chr11:26530629-26530630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200865216	chr11:26530639-26530640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184313114	chr11:26530640-26530641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556059943	chr11:26530641-26530642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539811411	chr11:26530646-26530647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145568354	chr11:26530650-26530651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375328197	chr11:26530652-26530653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533688500	chr11:26530653-26530654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12293163	chr11:26530654-26530655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs199949184	chr11:26530656-26530657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555657963	chr11:26530658-26530659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113921339	chr11:26530668-26530669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200892524	chr11:26530669-26530670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535261012	chr11:26530672-26530673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550699118	chr11:26530685-26530686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79844570	chr11:26530788-26530789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17243350	chr11:26530798-26530799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs557004512	chr11:26530810-26530811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117249180	chr11:26530819-26530820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	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
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:26506400-26564600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr11:26529800-26531200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:26531200-26533800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:26532000-26532600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:26532000-26532600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:26532400-26534000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:26532600-26533600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:26533800-26534000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:26533800-26540800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:26540800-26542000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:26540800-26543200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:26541000-26542000	Enhancers	Adipose Nuclei	Adipose
13	chr11:26544400-26545200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:26544400-26545200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr11:26544400-26545400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:26544400-26545600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:26544600-26545000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:26544600-26545200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:26544600-26545200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:26544600-26545200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:26544600-26545400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr11:26544600-26545400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:26544800-26545200	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:26544800-26545200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:26545200-26545400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:26545200-26545400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr11:26545400-26545600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:26545400-26545600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:26545400-26545800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
30	chr11:26545400-26546000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
31	chr11:26545400-26546400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr11:26545600-26545800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:26545600-26545800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr11:26545600-26545800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr11:26545600-26546200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr11:26546400-26546600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell

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