Variant report

Variant	nsv512238
Chromosome Location	chr11:93678943-93681452
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	chr11:93680099..93683642-chr11:93684474..93688848,4	K562	blood:
2	chr1:145200270..145202766-chr11:93677416..93679121,2	K562	blood:

Variant related genes	Relation type
ENSG00000272709	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2460046	chr11:93678975-93678976	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs57437481	chr11:93678983-93678984	Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs180853108	chr11:93679025-93679026	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368850684	chr11:93679030-93679031	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs555386032	chr11:93679086-93679087	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185460373	chr11:93679124-93679125	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59013509	chr11:93679158-93679159	Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532618697	chr11:93679230-93679231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2462745	chr11:93679231-93679232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560409928	chr11:93679258-93679259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56324205	chr11:93679263-93679264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368787806	chr11:93679279-93679280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200696983	chr11:93679304-93679305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374951345	chr11:93679305-93679306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374574938	chr11:93679329-93679330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376923105	chr11:93679360-93679361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28399951	chr11:93679406-93679407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192207860	chr11:93679604-93679605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377259168	chr11:93679619-93679620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370470313	chr11:93679658-93679659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577724019	chr11:93679668-93679669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373992324	chr11:93679831-93679832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367860204	chr11:93679832-93679833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534195352	chr11:93679887-93679888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370647598	chr11:93679888-93679889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554473053	chr11:93679889-93679890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554537376	chr11:93679936-93679937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371262426	chr11:93679963-93679964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375644800	chr11:93680004-93680005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545184537	chr11:93680103-93680104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113408016	chr11:93680214-93680215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577634041	chr11:93680288-93680289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201966000	chr11:93680361-93680362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549754174	chr11:93680470-93680471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368719624	chr11:93680488-93680489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563777485	chr11:93680533-93680534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11486241	chr11:93680536-93680537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375557905	chr11:93680548-93680549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575629293	chr11:93680552-93680553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548621663	chr11:93680558-93680559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11020609	chr11:93680577-93680578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546538972	chr11:93680579-93680580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143703219	chr11:93680582-93680583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570998113	chr11:93680592-93680593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372205409	chr11:93680597-93680598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569121229	chr11:93680605-93680606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113016755	chr11:93680616-93680617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552568839	chr11:93680622-93680623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528087338	chr11:93680633-93680634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10831153	chr11:93680698-93680699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
Prostate cancer	18632612	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93678400-93679000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:93678400-93679200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:93678400-93679200	Enhancers	HMEC	breast
4	chr11:93678600-93679000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:93678600-93679000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:93678600-93679000	Flanking Active TSS	HSMMtube	muscle
7	chr11:93678600-93679000	Bivalent Enhancer	Osteobl	bone
8	chr11:93678600-93679200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:93678600-93679200	Enhancers	NHEK	skin
10	chr11:93678800-93679000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:93678800-93679000	Enhancers	NH-A	brain
12	chr11:93678800-93679200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:93678800-93679200	Enhancers	HSMM	muscle
14	chr11:93679000-93679200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:93679000-93679200	Enhancers	HSMMtube	muscle
16	chr11:93679000-93681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:93679000-93681600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:93679200-93681400	Weak transcription	HMEC	breast
19	chr11:93679200-93681400	Weak transcription	NHEK	skin
20	chr11:93679200-93681600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:93679200-93681600	Weak transcription	HSMM	muscle
22	chr11:93679200-93681800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:93679200-93681800	Weak transcription	HSMMtube	muscle
24	chr11:93681400-93681600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:93681400-93682400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:93681400-93682400	Enhancers	NHEK	skin
27	chr11:93681400-93683400	Enhancers	HMEC	breast

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