Variant report

Variant	nsv555933
Chromosome Location	chr11:93023382-93028873
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	chr11:93018701..93021080-chr11:93023667..93026629,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7122184	chr11:93023382-93023383	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548415937	chr11:93023403-93023404	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11020244	chr11:93023464-93023465	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs560027324	chr11:93023509-93023510	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530219796	chr11:93023539-93023540	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548878529	chr11:93023541-93023542	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12281663	chr11:93023749-93023750	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528492451	chr11:93023750-93023751	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546572450	chr11:93023835-93023836	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs530734575	chr11:93023869-93023870	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs189790359	chr11:93023950-93023951	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs183102354	chr11:93023998-93023999	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs372680621	chr11:93024027-93024028	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs187693924	chr11:93024034-93024035	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs569368246	chr11:93024041-93024042	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs536814473	chr11:93024099-93024100	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs191084277	chr11:93024134-93024135	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs16912471	chr11:93024163-93024164	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151023407	chr11:93024194-93024195	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs573562817	chr11:93024219-93024220	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534648365	chr11:93024259-93024260	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs76018435	chr11:93024360-93024361	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs141230289	chr11:93024459-93024460	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs544789608	chr11:93024475-93024476	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs546586268	chr11:93024487-93024488	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs112130856	chr11:93024490-93024491	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs566626550	chr11:93024495-93024496	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs182865244	chr11:93024527-93024528	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs188703320	chr11:93024528-93024529	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs10831020	chr11:93024585-93024586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34614432	chr11:93024633-93024634	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540276106	chr11:93024649-93024650	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs373112542	chr11:93024667-93024668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs565137550	chr11:93024680-93024681	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs549777643	chr11:93024747-93024748	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10765600	chr11:93024792-93024793	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs550818147	chr11:93024807-93024808	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs113658519	chr11:93024816-93024817	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs530353983	chr11:93024844-93024845	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs11825153	chr11:93024857-93024858	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143635456	chr11:93024863-93024864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs80273706	chr11:93024913-93024914	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs117694664	chr11:93024947-93024948	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs571172874	chr11:93025019-93025020	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs538598450	chr11:93025140-93025141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs556804512	chr11:93025235-93025236	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs145708708	chr11:93025248-93025249	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs542451230	chr11:93025301-93025302	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs554339285	chr11:93025313-93025314	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs184974093	chr11:93025366-93025367	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	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
Prostate cancer	18632612	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
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93019400-93028600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:93021600-93024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:93021800-93023400	Enhancers	GM12878-XiMat	blood
4	chr11:93022800-93023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:93023200-93028600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:93023400-93025200	Weak transcription	GM12878-XiMat	blood
7	chr11:93023400-93025600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:93024400-93025600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:93024600-93025000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:93024600-93026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:93025000-93026200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:93025200-93025600	Enhancers	GM12878-XiMat	blood
13	chr11:93026200-93028400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:93028200-93028800	Enhancers	Fetal Brain Male	brain
15	chr11:93028400-93029000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:93028600-93028800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:93028600-93029000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:93028600-93029000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:93028600-93029200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:93028600-93029200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr11:93028600-93029400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:93028600-93029400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:93028600-93029600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr11:93028800-93029000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:93028800-93029200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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