Variant report

Variant	nsv972953
Chromosome Location	chr11:102378603-102393518
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102388774..102390376-chr11:102390959..102392573,2	K562	blood:
2	chr11:102388774..102390376-chr11:102390959..102392573,2	K562	blood:
3	chr11:102387787..102390274-chr11:102391073..102393822,2	K562	blood:
4	chr11:102390053..102392364-chr11:102401252..102403705,2	K562	blood:
5	chr11:102391762..102394705-chr11:102534694..102536985,2	K562	blood:
6	chr11:102387787..102390274-chr11:102391073..102393822,2	K562	blood:

Variant related genes	Relation type
ENSG00000137673	chromatin interactions

Extended variants
information (count: 677 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374041312	chr11:102378604-102378605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142754213	chr11:102378616-102378617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567244375	chr11:102378680-102378681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34215203	chr11:102378684-102378685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376889437	chr11:102378685-102378686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs397715774	chr11:102378696-102378697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555619678	chr11:102378739-102378740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111964408	chr11:102378808-102378809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555433979	chr11:102378819-102378820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115915874	chr11:102378833-102378834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541203542	chr11:102378857-102378858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79152211	chr11:102378873-102378874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371058659	chr11:102378874-102378875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535299732	chr11:102378938-102378939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376436814	chr11:102378957-102378958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566868943	chr11:102379005-102379006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186932672	chr11:102379013-102379014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527638648	chr11:102379054-102379055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575703050	chr11:102379077-102379078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563298017	chr11:102379140-102379141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374396322	chr11:102379179-102379180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549134088	chr11:102379180-102379181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76534806	chr11:102379191-102379192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528165617	chr11:102379192-102379193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551618321	chr11:102379196-102379197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571316411	chr11:102379204-102379205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs137950332	chr11:102379227-102379228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550600166	chr11:102379235-102379236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558153439	chr11:102379307-102379308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115414727	chr11:102379317-102379318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546415455	chr11:102379342-102379343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578059345	chr11:102379343-102379344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535439569	chr11:102379381-102379382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546147799	chr11:102379383-102379384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559682580	chr11:102379384-102379385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565855353	chr11:102379415-102379416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534757089	chr11:102379416-102379417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116073698	chr11:102379436-102379437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143730446	chr11:102379443-102379444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144177049	chr11:102379447-102379448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191871439	chr11:102379462-102379463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557360439	chr11:102379477-102379478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374428839	chr11:102379479-102379480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573116140	chr11:102379508-102379509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183596511	chr11:102379525-102379526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs938596	chr11:102379606-102379607	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs530653176	chr11:102379617-102379618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559357086	chr11:102379659-102379660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528205676	chr11:102379664-102379665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544733744	chr11:102379680-102379681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Colorectal cancer	16912164	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102372200-102379200	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:102379200-102379400	Enhancers	Colon Smooth Muscle	Colon
3	chr11:102379200-102380200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:102379400-102380800	Weak transcription	Colon Smooth Muscle	Colon
5	chr11:102380200-102381200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:102380800-102381800	Enhancers	Colon Smooth Muscle	Colon
7	chr11:102381200-102381400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:102381200-102381600	Enhancers	HepG2	liver
9	chr11:102381400-102381800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:102381400-102382000	Enhancers	Fetal Brain Male	brain
11	chr11:102381600-102384800	Weak transcription	HepG2	liver
12	chr11:102381800-102382400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:102381800-102384000	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:102382400-102384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:102384000-102385000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:102384000-102385800	Enhancers	Colon Smooth Muscle	Colon
17	chr11:102384600-102384800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:102384600-102385000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:102384600-102385000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:102384600-102385000	Enhancers	Fetal Heart	heart
21	chr11:102384600-102385000	Enhancers	Psoas Muscle	Psoas
22	chr11:102384600-102385000	Enhancers	HMEC	breast
23	chr11:102384600-102385000	Enhancers	NHEK	skin
24	chr11:102384600-102385200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:102384800-102385000	Enhancers	Aorta	Aorta
26	chr11:102384800-102385200	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:102384800-102385200	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:102384800-102386200	Enhancers	HepG2	liver
29	chr11:102385000-102385800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr11:102385000-102386400	Weak transcription	HMEC	breast
31	chr11:102385000-102386400	Weak transcription	NHEK	skin
32	chr11:102385000-102386800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:102385000-102388600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:102385000-102389400	Weak transcription	Aorta	Aorta
35	chr11:102385200-102386400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:102385200-102388600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:102385800-102387000	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:102385800-102389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:102386400-102386800	Enhancers	NHEK	skin
40	chr11:102386400-102387600	Enhancers	HMEC	breast
41	chr11:102386400-102387800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:102386800-102387400	Flanking Active TSS	NHEK	skin
43	chr11:102386800-102387600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:102386800-102387600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:102387400-102387600	Enhancers	Colon Smooth Muscle	Colon
46	chr11:102387400-102387600	Enhancers	NHEK	skin
47	chr11:102387600-102389200	Weak transcription	HMEC	breast
48	chr11:102388600-102389600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:102388600-102390000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:102389200-102389600	Enhancers	HMEC	breast

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