Variant report

Variant	nsv975097
Chromosome Location	chr11:27144853-27146438
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	chr11:26775142..26776062-chr11:27146200..27147224,6	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533393911	chr11:27144862-27144863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs150081153	chr11:27144897-27144898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554639743	chr11:27144920-27144921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181640506	chr11:27144969-27144970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3781677	chr11:27145005-27145006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112889841	chr11:27145019-27145020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538410791	chr11:27145021-27145022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568308929	chr11:27145022-27145023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529133952	chr11:27145026-27145027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550487324	chr11:27145028-27145029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375693305	chr11:27145050-27145051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568506606	chr11:27145059-27145060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58124167	chr11:27145154-27145155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186700974	chr11:27145218-27145219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142711915	chr11:27145240-27145241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6484266	chr11:27145378-27145379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs117521940	chr11:27145384-27145385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574319340	chr11:27145467-27145468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544898910	chr11:27145483-27145484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556946823	chr11:27145510-27145511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373601421	chr11:27145528-27145529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190302504	chr11:27145560-27145561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545083398	chr11:27145562-27145563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560589816	chr11:27145584-27145585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140233703	chr11:27145591-27145592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182567642	chr11:27145599-27145600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116938323	chr11:27145635-27145636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564313525	chr11:27145655-27145656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186804247	chr11:27145722-27145723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147735626	chr11:27145728-27145729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563149678	chr11:27145737-27145738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550450292	chr11:27145797-27145798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562452017	chr11:27145820-27145821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532718500	chr11:27145836-27145837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551110566	chr11:27145841-27145842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34754536	chr11:27145863-27145864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116909615	chr11:27145870-27145871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566528592	chr11:27145889-27145890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1550617	chr11:27145929-27145930	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs549090407	chr11:27145962-27145963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189685853	chr11:27145970-27145971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567857737	chr11:27145995-27145996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550388521	chr11:27146002-27146003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372162189	chr11:27146003-27146004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs578251344	chr11:27146035-27146036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183542254	chr11:27146058-27146059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560956892	chr11:27146073-27146074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553863042	chr11:27146106-27146107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376811139	chr11:27146108-27146109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1550618	chr11:27146120-27146121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:50)

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
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Neuroticism	17667963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:27141000-27145200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr11:27142400-27150400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:27143200-27147200	Weak transcription	Liver	Liver
4	chr11:27144400-27145800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:27144800-27147200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:27145000-27146000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:27145200-27145600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr11:27145200-27145600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:27145200-27145800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr11:27145400-27145800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:27145600-27146000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:27145600-27146000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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