Variant report

Variant	nsv508654
Chromosome Location	chr11:106980612-107015648
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:106999107..107000959-chr11:107001303..107003964,3	K562	blood:
2	chr11:106989221..106991888-chr11:106999463..107001388,2	K562	blood:
3	chr11:106989221..106991888-chr11:106999463..107001388,2	K562	blood:
4	chr11:106999107..107000959-chr11:107001303..107003964,3	K562	blood:

Extended variants
information (count: 440 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547899402	chr11:106986825-106986826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559930448	chr11:106986831-106986832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7116334	chr11:106986888-106986889	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs373889303	chr11:106986890-106986891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548914675	chr11:106986898-106986899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567516113	chr11:106986968-106986969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551067703	chr11:106986987-106986988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145176649	chr11:106986991-106986992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531528555	chr11:106986992-106986993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182160351	chr11:106986993-106986994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550078594	chr11:106987020-106987021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571142498	chr11:106987107-106987108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553019096	chr11:106987178-106987179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538287938	chr11:106987179-106987180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573013513	chr11:106987187-106987188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140221217	chr11:106987189-106987190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555368741	chr11:106987206-106987207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565443052	chr11:106987224-106987225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575844699	chr11:106987234-106987235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544928394	chr11:106987249-106987250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187645825	chr11:106987283-106987284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554882097	chr11:106987303-106987304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576649359	chr11:106987313-106987314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550288325	chr11:106987319-106987320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564633501	chr11:106987331-106987332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386757221	chr11:106987393-106987394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111509034	chr11:106987394-106987395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2462408	chr11:106987395-106987396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116399013	chr11:106987406-106987407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76976303	chr11:106987412-106987413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7926583	chr11:106987445-106987446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs60018172	chr11:106987455-106987456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190758159	chr11:106987527-106987528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542778810	chr11:106987528-106987529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560898983	chr11:106987575-106987576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11212035	chr11:106987593-106987594	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561802664	chr11:106987613-106987614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571255034	chr11:106987627-106987628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17106453	chr11:106987630-106987631	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs547001105	chr11:106987635-106987636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531218407	chr11:106987678-106987679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs145262467	chr11:106987688-106987689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551606816	chr11:106987693-106987694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs137902251	chr11:106987701-106987702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554681357	chr11:106987811-106987812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12289697	chr11:106987832-106987833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533952473	chr11:106987917-106987918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61662400	chr11:106987957-106987958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558936672	chr11:106988060-106988061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577621453	chr11:106988073-106988074	Enhancers	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
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
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
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	21811512	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:106986800-106987600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr11:106987200-106987600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:106987400-106988800	Enhancers	Fetal Intestine Small	intestine
4	chr11:106987800-106988200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:106988200-106991400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:106988800-106992600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:106991400-106991800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:106991400-106992200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:106992200-106993800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:107001800-107003600	Enhancers	Fetal Intestine Large	intestine
11	chr11:107002200-107003200	Enhancers	Fetal Intestine Small	intestine
12	chr11:107010000-107010200	Enhancers	Brain Germinal Matrix	brain
13	chr11:107010000-107010200	Enhancers	Fetal Brain Female	brain
14	chr11:107010200-107010400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:107010200-107010400	Enhancers	Fetal Brain Male	brain
16	chr11:107010200-107010800	Weak transcription	Brain Germinal Matrix	brain
17	chr11:107010800-107011600	Enhancers	Brain Germinal Matrix	brain
18	chr11:107011200-107012800	Enhancers	Fetal Muscle Leg	muscle
19	chr11:107011600-107011800	Enhancers	Fetal Brain Male	brain
20	chr11:107012000-107012400	Enhancers	Fetal Brain Female	brain
21	chr11:107012600-107012800	Enhancers	Fetal Brain Male	brain

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