Variant report

Variant	nsv516245
Chromosome Location	chr11:93025578-93028940
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: 101 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1579874	chr11:93025578-93025579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200588257	chr11:93025600-93025601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs571100433	chr11:93025661-93025662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572992322	chr11:93025673-93025674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187487333	chr11:93025685-93025686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556905579	chr11:93025721-93025722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568657215	chr11:93025722-93025723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535944734	chr11:93025766-93025767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191371242	chr11:93025785-93025786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143595295	chr11:93025808-93025809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533968000	chr11:93026000-93026001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371354652	chr11:93026098-93026099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558613454	chr11:93026106-93026107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183897167	chr11:93026148-93026149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189450531	chr11:93026198-93026199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541917299	chr11:93026294-93026295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141029711	chr11:93026295-93026296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201325661	chr11:93026322-93026323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561604206	chr11:93026336-93026337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112420529	chr11:93026365-93026366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564978553	chr11:93026443-93026444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182048974	chr11:93026463-93026464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142141269	chr11:93026579-93026580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11020245	chr11:93026580-93026581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs199572004	chr11:93026594-93026595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12224936	chr11:93026598-93026599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77369337	chr11:93026606-93026607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138765236	chr11:93026643-93026644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111779670	chr11:93026675-93026676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117898625	chr11:93026718-93026719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568522507	chr11:93026743-93026744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535811366	chr11:93026806-93026807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185010608	chr11:93026808-93026809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113750431	chr11:93026841-93026842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117364256	chr11:93026921-93026922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190250907	chr11:93026941-93026942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372570916	chr11:93026973-93026974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111301679	chr11:93027003-93027004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538153168	chr11:93027017-93027018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546596880	chr11:93027096-93027097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117123345	chr11:93027130-93027131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574910330	chr11:93027154-93027155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs137887075	chr11:93027218-93027219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12421676	chr11:93027220-93027221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370520779	chr11:93027371-93027372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546125866	chr11:93027378-93027379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs74654244	chr11:93027418-93027419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566501845	chr11:93027429-93027430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79426814	chr11:93027431-93027432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186609262	chr11:93027455-93027456	Weak transcription	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:20 , 50 per page) page: 1

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

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