Variant report

Variant	nsv826068
Chromosome Location	chr11:103959392-104003956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:103990485..103992119-chr11:103992666..103995394,2	K562	blood:
2	chr11:103968351..103970257-chr11:103981354..103982910,2	K562	blood:
3	chr11:103968351..103970257-chr11:103981354..103982910,2	K562	blood:
4	chr11:103990485..103992119-chr11:103992666..103995394,2	K562	blood:

Extended variants
information (count: 1862 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:1862 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113879177	chr11:103959406-103959407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569178678	chr11:103959431-103959432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183611034	chr11:103959458-103959459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544400610	chr11:103959566-103959567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559332599	chr11:103959616-103959617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374174504	chr11:103959621-103959622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186274974	chr11:103959636-103959637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201398556	chr11:103959654-103959655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397803773	chr11:103959664-103959665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190646145	chr11:103959669-103959670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546035334	chr11:103959671-103959672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12270432	chr11:103959707-103959708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531015438	chr11:103959710-103959711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79517695	chr11:103959717-103959718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17101942	chr11:103959760-103959761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74422822	chr11:103959794-103959795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546874566	chr11:103959809-103959810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61892482	chr11:103959914-103959915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566488584	chr11:103959918-103959919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs361281	chr11:103959987-103959988	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs369739080	chr11:103960075-103960076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552129187	chr11:103960117-103960118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542194012	chr11:103960132-103960133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs361282	chr11:103960170-103960171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534000531	chr11:103960183-103960184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531874874	chr11:103960184-103960185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537943952	chr11:103960185-103960186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187228019	chr11:103960195-103960196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144530794	chr11:103960226-103960227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367722487	chr11:103960268-103960269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201318206	chr11:103960290-103960291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17423306	chr11:103960309-103960310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs553221258	chr11:103960317-103960318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573175923	chr11:103960322-103960323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545032449	chr11:103960349-103960350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79301384	chr11:103960361-103960362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532558386	chr11:103960405-103960406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561819419	chr11:103960415-103960416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575698616	chr11:103960461-103960462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374001626	chr11:103960474-103960475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192623547	chr11:103960477-103960478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529881974	chr11:103960510-103960511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146625398	chr11:103960546-103960547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373544227	chr11:103960552-103960553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560472688	chr11:103960583-103960584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs361283	chr11:103960620-103960621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs571002963	chr11:103960749-103960750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117771696	chr11:103960753-103960754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568787491	chr11:103960797-103960798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537552889	chr11:103960809-103960810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	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
Melanoma	17363583	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
Obesity	19966786	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:210 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:103945000-103961600	Weak transcription	Left Ventricle	heart
2	chr11:103945000-103964400	Weak transcription	Aorta	Aorta
3	chr11:103945000-103965400	Weak transcription	Ovary	ovary
4	chr11:103956600-103964400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:103957600-103961600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:103957800-103961800	Weak transcription	Brain Germinal Matrix	brain
7	chr11:103958200-103961600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:103961000-103963400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:103961000-103963400	Enhancers	Fetal Brain Male	brain
10	chr11:103961400-103961800	Enhancers	Psoas Muscle	Psoas
11	chr11:103961400-103962200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr11:103961400-103963000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:103961400-103963200	Enhancers	Fetal Lung	lung
14	chr11:103961400-103964000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:103961400-103964000	Enhancers	Fetal Muscle Leg	muscle
16	chr11:103961600-103961800	Enhancers	Left Ventricle	heart
17	chr11:103961600-103963000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:103961600-103963000	Enhancers	Adipose Nuclei	Adipose
19	chr11:103961600-103963200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:103961600-103963200	Enhancers	Fetal Brain Female	brain
21	chr11:103961600-103967600	Enhancers	Fetal Heart	heart
22	chr11:103961800-103963400	Enhancers	Brain Germinal Matrix	brain
23	chr11:103962000-103963000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:103963000-103963200	Enhancers	Pancreas	Pancrea
25	chr11:103963000-103964200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:103963000-103964400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:103963200-103964200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:103963400-103963800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:103963400-103963800	Weak transcription	Pancreas	Pancrea
30	chr11:103963400-103964000	Weak transcription	Fetal Brain Male	brain
31	chr11:103963800-103966800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr11:103964000-103964200	Enhancers	Fetal Brain Male	brain
33	chr11:103964000-103964200	Enhancers	Pancreas	Pancrea
34	chr11:103964000-103964400	Enhancers	Right Atrium	heart
35	chr11:103964000-103964600	Enhancers	A549	lung
36	chr11:103964000-103965600	Weak transcription	Fetal Muscle Leg	muscle
37	chr11:103964200-103966000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:103964200-103966200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:103964400-103964800	Enhancers	Aorta	Aorta
40	chr11:103964400-103964800	Weak transcription	Right Atrium	heart
41	chr11:103964400-103965000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:103964400-103965200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:103964800-103965000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:103964800-103965000	Enhancers	Right Atrium	heart
45	chr11:103964800-103975800	Weak transcription	Aorta	Aorta
46	chr11:103965000-103966000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:103965000-103967600	Weak transcription	Right Atrium	heart
48	chr11:103965200-103965600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:103965400-103965800	Enhancers	Ovary	ovary
50	chr11:103965600-103965800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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