Variant report

Variant	nsv556134
Chromosome Location	chr11:101398450-101436689
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	chr11:101401501..101402180-chr15:83292649..83293203,2	MCF-7	breast:

Extended variants
information (count: 1600 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1600 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4466798	chr11:101398450-101398451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149441926	chr11:101398495-101398496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555644825	chr11:101398536-101398537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560294621	chr11:101398543-101398544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532283640	chr11:101398580-101398581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552284488	chr11:101398600-101398601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575509936	chr11:101398612-101398613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544349809	chr11:101398631-101398632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564711414	chr11:101398647-101398648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35169798	chr11:101398665-101398666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35770044	chr11:101398671-101398672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12801371	chr11:101398678-101398679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568696144	chr11:101398709-101398710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79524961	chr11:101398736-101398737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547630971	chr11:101398764-101398765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11224818	chr11:101398778-101398779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374179956	chr11:101398796-101398797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539581056	chr11:101398809-101398810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556217821	chr11:101398811-101398812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571734810	chr11:101398837-101398838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35212936	chr11:101398939-101398940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186868683	chr11:101398958-101398959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139615555	chr11:101398962-101398963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190564116	chr11:101398967-101398968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540521611	chr11:101399051-101399052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560421378	chr11:101399059-101399060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577087580	chr11:101399070-101399071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545933943	chr11:101399079-101399080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562788343	chr11:101399087-101399088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562568190	chr11:101399107-101399108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182784867	chr11:101399111-101399112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114935623	chr11:101399118-101399119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561523052	chr11:101399130-101399131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144525053	chr11:101399134-101399135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547670636	chr11:101399269-101399270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115521467	chr11:101399299-101399300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147811392	chr11:101399376-101399377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141354016	chr11:101399411-101399412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570096995	chr11:101399436-101399437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112913643	chr11:101399443-101399444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547768464	chr11:101399463-101399464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs3924457	chr11:101399510-101399511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs147053118	chr11:101399539-101399540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534106964	chr11:101399541-101399542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571623502	chr11:101399556-101399557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577125191	chr11:101399560-101399561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545979112	chr11:101399561-101399562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555988391	chr11:101399575-101399576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112493994	chr11:101399585-101399586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189174283	chr11:101399615-101399616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101387600-101400800	Weak transcription	Ovary	ovary
2	chr11:101392400-101402600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:101396800-101399000	Weak transcription	Fetal Intestine Large	intestine
4	chr11:101397000-101399000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:101399000-101399200	Enhancers	Fetal Intestine Large	intestine
6	chr11:101399000-101399200	Enhancers	Fetal Intestine Small	intestine
7	chr11:101399200-101399600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:101399200-101399600	Weak transcription	Fetal Intestine Small	intestine
9	chr11:101399600-101400600	Enhancers	Fetal Intestine Large	intestine
10	chr11:101399600-101400600	Enhancers	Fetal Intestine Small	intestine
11	chr11:101399800-101400600	Weak transcription	Aorta	Aorta
12	chr11:101400600-101401000	ZNF genes & repeats	Aorta	Aorta
13	chr11:101400800-101401200	Enhancers	Ovary	ovary
14	chr11:101401200-101425800	Weak transcription	Ovary	ovary
15	chr11:101402600-101402800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:101416400-101437400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:101421600-101424800	Enhancers	Fetal Lung	lung
18	chr11:101422200-101423200	Enhancers	NHDF-Ad	bronchial
19	chr11:101422400-101423000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr11:101422400-101423200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:101422400-101427400	Enhancers	NHLF	lung
22	chr11:101423000-101423200	Enhancers	Colon Smooth Muscle	Colon
23	chr11:101423200-101423600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:101423200-101423600	Weak transcription	NHDF-Ad	bronchial
25	chr11:101423200-101423800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:101423200-101424200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:101423400-101424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:101423400-101425400	Enhancers	Primary B cells from cord blood	blood
29	chr11:101423600-101426400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:101423600-101426800	Enhancers	NHDF-Ad	bronchial
31	chr11:101423800-101424000	Active TSS	GM12878-XiMat	blood
32	chr11:101423800-101424400	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:101423800-101424600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr11:101423800-101425000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:101423800-101425800	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:101424000-101424800	Flanking Active TSS	GM12878-XiMat	blood
37	chr11:101424000-101425000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:101424200-101424400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr11:101424200-101424400	Enhancers	Colon Smooth Muscle	Colon
40	chr11:101424200-101425800	Enhancers	Fetal Heart	heart
41	chr11:101424400-101424800	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr11:101424400-101437200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:101424600-101425800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr11:101424800-101425400	Enhancers	GM12878-XiMat	blood
45	chr11:101424800-101426200	Enhancers	Colon Smooth Muscle	Colon
46	chr11:101425600-101426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:101425600-101426800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr11:101425800-101426200	Enhancers	Ovary	ovary
49	chr11:101426200-101429200	Weak transcription	Ovary	ovary
50	chr11:101426400-101447600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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