Variant report

Variant	nsv458
Chromosome Location	chr11:100299428-100344419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:100102116..100102657-chr11:100315948..100316816,2	MCF-7	breast:
2	chr11:100314656..100316857-chr11:100317822..100320646,2	K562	blood:
3	chr11:100314656..100316857-chr11:100317822..100320646,2	K562	blood:

Extended variants
information (count: 1045 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117751714	chr11:100302896-100302897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544465358	chr11:100302918-100302919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561252028	chr11:100302924-100302925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530016023	chr11:100302952-100302953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540639849	chr11:100302981-100302982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183946604	chr11:100302988-100302989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532616860	chr11:100303017-100303018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552744298	chr11:100303022-100303023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571426116	chr11:100303039-100303040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187647101	chr11:100303050-100303051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557680714	chr11:100303082-100303083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550864235	chr11:100303088-100303089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567565153	chr11:100303097-100303098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540024341	chr11:100303124-100303125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577317247	chr11:100303127-100303128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552909902	chr11:100303131-100303132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566388825	chr11:100303135-100303136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145918155	chr11:100303139-100303140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58107169	chr11:100303178-100303179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575388593	chr11:100303227-100303228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192417611	chr11:100303236-100303237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138955349	chr11:100303259-100303260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142873487	chr11:100303281-100303282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540029980	chr11:100303473-100303474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544873833	chr11:100303497-100303498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183750145	chr11:100303507-100303508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79426403	chr11:100303573-100303574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368207344	chr11:100303591-100303592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546272296	chr11:100303613-100303614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11224219	chr11:100303645-100303646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35911066	chr11:100303663-100303664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74416393	chr11:100303677-100303678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150837850	chr11:100303698-100303699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138150243	chr11:100303750-100303751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374937788	chr11:100303760-100303761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560952124	chr11:100303761-100303762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149552522	chr11:100303773-100303774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs546616079	chr11:100303776-100303777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566426415	chr11:100303777-100303778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541947320	chr11:100303780-100303781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551829509	chr11:100303802-100303803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568628666	chr11:100303808-100303809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112734723	chr11:100303846-100303847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537586107	chr11:100303848-100303849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555123901	chr11:100303850-100303851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144295338	chr11:100303878-100303879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534497369	chr11:100303887-100303888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76538452	chr11:100303888-100303889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140062343	chr11:100303934-100303935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143828493	chr11:100303954-100303955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100302800-100303000	Enhancers	Fetal Heart	heart
2	chr11:100302800-100303000	Enhancers	Left Ventricle	heart
3	chr11:100303000-100305600	Weak transcription	Fetal Heart	heart
4	chr11:100303000-100305800	Weak transcription	Left Ventricle	heart
5	chr11:100303400-100308000	Enhancers	Colon Smooth Muscle	Colon
6	chr11:100304800-100305200	Enhancers	Rectal Smooth Muscle	rectum
7	chr11:100305200-100305600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr11:100305400-100305800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:100305400-100306000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:100305600-100305800	Enhancers	Rectal Smooth Muscle	rectum
11	chr11:100305600-100306200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:100305600-100306200	Active TSS	Fetal Heart	heart
13	chr11:100305800-100306000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr11:100305800-100306000	ZNF genes & repeats	Left Ventricle	heart
15	chr11:100305800-100306200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:100305800-100306200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr11:100305800-100306200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:100305800-100307000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:100306000-100306200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:100306000-100309200	Weak transcription	Left Ventricle	heart
21	chr11:100306000-100311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:100306200-100307200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr11:100306200-100307200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:100306200-100307200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:100306200-100307200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:100306200-100307800	Weak transcription	Fetal Heart	heart
27	chr11:100307000-100307400	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:100307200-100307400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:100307200-100307400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:100307200-100307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr11:100307200-100307800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr11:100307800-100310400	Enhancers	Fetal Heart	heart
33	chr11:100308000-100309000	Weak transcription	Colon Smooth Muscle	Colon
34	chr11:100309000-100309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:100309000-100310800	Enhancers	Colon Smooth Muscle	Colon
36	chr11:100309200-100309400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:100309200-100309400	Enhancers	Left Ventricle	heart
38	chr11:100309400-100310000	Weak transcription	Left Ventricle	heart
39	chr11:100309400-100311600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:100309400-100316000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:100310000-100310200	Enhancers	Left Ventricle	heart
42	chr11:100310400-100314400	Weak transcription	Fetal Heart	heart
43	chr11:100314400-100314800	Enhancers	Fetal Heart	heart
44	chr11:100314800-100315200	Weak transcription	Fetal Heart	heart
45	chr11:100315200-100317400	Enhancers	Fetal Heart	heart
46	chr11:100315200-100317600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:100315600-100316400	Enhancers	Hela-S3	cervix
48	chr11:100315600-100317000	Enhancers	Fetal Brain Female	brain
49	chr11:100315800-100317000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:100316000-100316400	Enhancers	Adipose Nuclei	Adipose

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