Variant report

Variant	nsv897090
Chromosome Location	chr11:24539980-24576745
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	chr11:24573142..24575469-chr11:24578470..24580087,2	MCF-7	breast:

Extended variants
information (count: 577 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386751674	chr11:24539980-24539981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs57056516	chr11:24539982-24539983	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs546190541	chr11:24539984-24539985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs16912670	chr11:24540041-24540042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576492949	chr11:24540048-24540049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192446442	chr11:24540049-24540050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561779006	chr11:24540095-24540096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149458963	chr11:24540096-24540097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540934132	chr11:24540121-24540122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564002472	chr11:24540179-24540180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532790303	chr11:24540195-24540196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578224803	chr11:24540224-24540225	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375486996	chr11:24540232-24540233	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs528118617	chr11:24540253-24540254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549397359	chr11:24540276-24540277	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs12418590	chr11:24540278-24540279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529021590	chr11:24540281-24540282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549059966	chr11:24540295-24540296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568564794	chr11:24540350-24540351	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143858669	chr11:24540375-24540376	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112242864	chr11:24540377-24540378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs571189677	chr11:24540378-24540379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs540119914	chr11:24540417-24540418	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs556323481	chr11:24540430-24540431	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs186857611	chr11:24540438-24540439	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs535578874	chr11:24540453-24540454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191617655	chr11:24540518-24540519	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs571923115	chr11:24540519-24540520	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148642914	chr11:24540530-24540531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs143309347	chr11:24540571-24540572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs370090665	chr11:24540586-24540587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115377879	chr11:24540599-24540600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs146206504	chr11:24540612-24540613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112845186	chr11:24540657-24540658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182372730	chr11:24540682-24540683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144391552	chr11:24540686-24540687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528834396	chr11:24540696-24540697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548816348	chr11:24540727-24540728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187181075	chr11:24540735-24540736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12292459	chr11:24540757-24540758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375288336	chr11:24540765-24540766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71472802	chr11:24540770-24540771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73429143	chr11:24540816-24540817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182306239	chr11:24540833-24540834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10466431	chr11:24540863-24540864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs16912674	chr11:24540890-24540891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs535806300	chr11:24540978-24540979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375619814	chr11:24540984-24540985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533061203	chr11:24540996-24540997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77556924	chr11:24541026-24541027	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:24537000-24540000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:24538600-24543000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:24539800-24540200	Enhancers	Fetal Heart	heart
4	chr11:24540000-24540800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr11:24540200-24540600	Flanking Active TSS	Fetal Heart	heart
6	chr11:24540600-24540800	Enhancers	Fetal Heart	heart
7	chr11:24540800-24543000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:24542600-24542800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:24543000-24543200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr11:24543000-24543400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:24546400-24546600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:24546600-24547600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:24546800-24548000	Enhancers	Dnd41	blood
14	chr11:24547600-24548000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:24563000-24563400	Enhancers	Fetal Heart	heart
16	chr11:24563400-24564800	Weak transcription	Fetal Heart	heart
17	chr11:24564800-24566000	Enhancers	Fetal Heart	heart
18	chr11:24569000-24574400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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