Variant report

Variant	nsv461
Chromosome Location	chr11:101534107-101584004
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	chr11:100998594..101000111-chr11:101554824..101557594,2	MCF-7	breast:
2	chr11:101555926..101558823-chr11:101880932..101883184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000082175	chromatin interactions

Extended variants
information (count: 1334 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1334 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184120570	chr11:101534150-101534151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534855860	chr11:101534200-101534201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145940376	chr11:101534227-101534228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs36024530	chr11:101534272-101534273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556186004	chr11:101534276-101534277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542804682	chr11:101534313-101534314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1938834	chr11:101534325-101534326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs538916169	chr11:101534450-101534451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139956340	chr11:101534481-101534482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551483206	chr11:101534495-101534496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564908045	chr11:101534540-101534541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530416290	chr11:101534583-101534584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552187797	chr11:101537640-101537641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569092810	chr11:101537678-101537679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79842864	chr11:101537694-101537695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191142467	chr11:101537708-101537709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533675932	chr11:101537775-101537776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553442085	chr11:101537818-101537819	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs570399236	chr11:101537829-101537830	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs139804372	chr11:101537888-101537889	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556590522	chr11:101537942-101537943	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs182259191	chr11:101537952-101537953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs567332991	chr11:101538034-101538035	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559016188	chr11:101538037-101538038	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs187335145	chr11:101538045-101538046	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs114604848	chr11:101538065-101538066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs374667897	chr11:101538089-101538090	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112943669	chr11:101538106-101538107	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs142075707	chr11:101538119-101538120	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs533182255	chr11:101538176-101538177	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543764396	chr11:101538186-101538187	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs150797335	chr11:101538219-101538220	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531659914	chr11:101538230-101538231	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548066371	chr11:101538281-101538282	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs566361189	chr11:101538282-101538283	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs139222621	chr11:101538327-101538328	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527480317	chr11:101538333-101538334	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs373521456	chr11:101538342-101538343	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547093913	chr11:101538354-101538355	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs72980390	chr11:101538365-101538366	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76154611	chr11:101538379-101538380	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs375843509	chr11:101538428-101538429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539080097	chr11:101538430-101538431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554705232	chr11:101538435-101538436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556097865	chr11:101538450-101538451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569530079	chr11:101538473-101538474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80308532	chr11:101538478-101538479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556090250	chr11:101538534-101538535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147616389	chr11:101538542-101538543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142404973	chr11:101538563-101538564	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Myelofibrosis	22110671	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
Mantle cell lymphoma	19029149	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101534000-101534600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr11:101534200-101534600	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr11:101537600-101537800	Enhancers	A549	lung
4	chr11:101537800-101538400	Flanking Active TSS	A549	lung
5	chr11:101537800-101539000	Enhancers	Fetal Lung	lung
6	chr11:101538400-101538600	Enhancers	A549	lung
7	chr11:101539000-101539400	Active TSS	Fetal Lung	lung
8	chr11:101539400-101540400	Enhancers	Fetal Lung	lung
9	chr11:101541200-101541400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:101555000-101555600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:101555400-101558000	Enhancers	A549	lung
12	chr11:101555600-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:101555800-101556000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:101555800-101556000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:101555800-101556000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:101555800-101556000	Enhancers	NHDF-Ad	bronchial
17	chr11:101555800-101556200	Enhancers	NHEK	skin
18	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:101556000-101557000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:101556000-101557000	Weak transcription	NHDF-Ad	bronchial
21	chr11:101556000-101563000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:101556200-101556600	Weak transcription	NHEK	skin
23	chr11:101556600-101558000	Enhancers	NHEK	skin
24	chr11:101557000-101558000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:101557000-101558000	Enhancers	HMEC	breast
26	chr11:101557000-101558000	Enhancers	NH-A	brain
27	chr11:101557000-101558000	Enhancers	NHDF-Ad	bronchial
28	chr11:101557000-101558200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:101557200-101557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:101557200-101558000	Enhancers	Osteobl	bone
31	chr11:101557200-101558200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:101557200-101558200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:101557600-101558800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:101560800-101563200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr11:101561600-101568400	Weak transcription	Ovary	ovary
36	chr11:101563200-101564400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr11:101564400-101565000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:101564800-101565600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr11:101564800-101565600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:101564800-101565800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr11:101564800-101565800	Enhancers	A549	lung
42	chr11:101564800-101578400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:101565000-101565600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:101565600-101565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:101575200-101575600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:101575200-101575800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:101575200-101578800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:101575400-101575600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr11:101575400-101576200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr11:101575400-101576600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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