Variant report

Variant	nsv468
Chromosome Location	chr11:104262893-104284098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:
2	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
3	chr11:104258415..104260627-chr11:104273421..104275003,2	K562	blood:
4	chr11:104266914..104269126-chr11:104273371..104275072,3	K562	blood:
5	chr11:104263922..104265459-chr11:104276498..104278542,2	K562	blood:

Extended variants
information (count: 624 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112999276	chr11:104262904-104262905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374521289	chr11:104262914-104262915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568189792	chr11:104262915-104262916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536833137	chr11:104262943-104262944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550382799	chr11:104262960-104262961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567307749	chr11:104262962-104262963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181099136	chr11:104262982-104262983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149333053	chr11:104263035-104263036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17102426	chr11:104263059-104263060	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538667752	chr11:104263080-104263081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558476082	chr11:104263103-104263104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12361853	chr11:104263105-104263106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186113830	chr11:104263134-104263135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368263297	chr11:104263135-104263136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139355762	chr11:104263183-104263184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568873208	chr11:104263190-104263191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs574035985	chr11:104263196-104263197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79459044	chr11:104263206-104263207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576475800	chr11:104263215-104263216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71484353	chr11:104263231-104263232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144092874	chr11:104263275-104263276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190591699	chr11:104263283-104263284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61894263	chr11:104263292-104263293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377507943	chr11:104263333-104263334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146094985	chr11:104263346-104263347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530717393	chr11:104263363-104263364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34392867	chr11:104263402-104263403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550710545	chr11:104263403-104263404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182828393	chr11:104263443-104263444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536491848	chr11:104263480-104263481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571348212	chr11:104263515-104263516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4344454	chr11:104263518-104263519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577267114	chr11:104263659-104263660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71484354	chr11:104263692-104263693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187376042	chr11:104263696-104263697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558605542	chr11:104263701-104263702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17102427	chr11:104263712-104263713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112099234	chr11:104263724-104263725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190968651	chr11:104263743-104263744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533992743	chr11:104263836-104263837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372594926	chr11:104263858-104263859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557678650	chr11:104263874-104263875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574150874	chr11:104263905-104263906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116696952	chr11:104263906-104263907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553176983	chr11:104263962-104263963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371640218	chr11:104263981-104263982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573017348	chr11:104264004-104264005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374555437	chr11:104264005-104264006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564946529	chr11:104264010-104264011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530853271	chr11:104264062-104264063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
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
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Melanoma	17363583	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104260600-104263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:104261600-104264800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:104262800-104263400	Enhancers	Psoas Muscle	Psoas
4	chr11:104263200-104263400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:104263400-104264000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:104264800-104265400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:104265000-104265200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr11:104265200-104265400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr11:104265200-104265400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr11:104265200-104266000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:104265200-104267000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:104265200-104267800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:104265400-104266800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:104265600-104266600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:104266400-104267800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:104266600-104267800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr11:104266800-104267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr11:104267000-104267400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:104267000-104267600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:104267000-104267600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:104267400-104271600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:104267600-104273200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr11:104267600-104273400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr11:104267800-104273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:104267800-104273200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:104267800-104273200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:104271600-104272000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:104272000-104273400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:104272200-104273600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:104273200-104273400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr11:104273200-104273600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr11:104273200-104274000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr11:104273200-104276000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr11:104273400-104273600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr11:104273400-104273600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr11:104273400-104273600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:104273400-104273800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr11:104273400-104274000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr11:104273400-104274200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:104273400-104274400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:104273400-104274400	Enhancers	Stomach Mucosa	stomach
42	chr11:104273400-104275000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:104273600-104273800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:104273600-104273800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:104273600-104274000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:104273600-104274000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr11:104273600-104274000	Enhancers	NH-A	brain
48	chr11:104273600-104274200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:104273600-104274200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr11:104273600-104274200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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