Variant report

Variant	nsv1048625
Chromosome Location	chr11:101667158-101720068
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:101710531..101712863-chr11:101715498..101717187,2	K562	blood:
2	chr11:101630508..101631518-chr11:101718726..101719557,3	MCF-7	breast:
3	chr11:101686463..101689388-chr11:101690529..101692168,2	K562	blood:
4	chr11:101686463..101689388-chr11:101690529..101692168,2	K562	blood:
5	chr11:101631523..101632519-chr11:101671488..101672112,2	MCF-7	breast:
6	chr11:101710531..101712863-chr11:101715498..101717187,2	K562	blood:
7	chr11:101327259..101328354-chr11:101718588..101719686,4	MCF-7	breast:

No data

Extended variants
information (count: 1582 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1582 , 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	rs10501990	chr11:101667158-101667159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs369373439	chr11:101667237-101667238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535772373	chr11:101667265-101667266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11225007	chr11:101667294-101667295	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs566153515	chr11:101667296-101667297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534844138	chr11:101667313-101667314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4754800	chr11:101667330-101667331	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs571023600	chr11:101667348-101667349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577681828	chr11:101667361-101667362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372696420	chr11:101667370-101667371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115096671	chr11:101667400-101667401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576324847	chr11:101667456-101667457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149903031	chr11:101667486-101667487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78819144	chr11:101667505-101667506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572289037	chr11:101667534-101667535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541190302	chr11:101667538-101667539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553631657	chr11:101667546-101667547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564835049	chr11:101667548-101667549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533040075	chr11:101667565-101667566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549797590	chr11:101667581-101667582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563130916	chr11:101667613-101667614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528842411	chr11:101667667-101667668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531273419	chr11:101667669-101667670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368694335	chr11:101667686-101667687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189425587	chr11:101667732-101667733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534904094	chr11:101667733-101667734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144973899	chr11:101667740-101667741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571454603	chr11:101667756-101667757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192840193	chr11:101667807-101667808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557384385	chr11:101667816-101667817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7131271	chr11:101667830-101667831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74607578	chr11:101667920-101667921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116355612	chr11:101667971-101667972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555388234	chr11:101667980-101667981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377706753	chr11:101667984-101667985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541258019	chr11:101668003-101668004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543134089	chr11:101668022-101668023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1939041	chr11:101668025-101668026	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555576300	chr11:101668039-101668040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575597326	chr11:101668050-101668051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61625821	chr11:101668065-101668066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7104516	chr11:101668066-101668067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528904781	chr11:101668144-101668145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185332836	chr11:101668165-101668166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73581889	chr11:101668241-101668242	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs528756351	chr11:101668267-101668268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189391916	chr11:101668309-101668310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34886701	chr11:101668317-101668318	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7119393	chr11:101668318-101668319	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1939039	chr11:101668330-101668331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
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
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101658200-101668000	Weak transcription	Fetal Lung	lung
2	chr11:101658400-101667600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr11:101663800-101668400	Weak transcription	Ovary	ovary
4	chr11:101664600-101667200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:101664600-101667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:101665000-101667200	Weak transcription	NHDF-Ad	bronchial
7	chr11:101665000-101667800	Weak transcription	Osteobl	bone
8	chr11:101665000-101668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:101665200-101668000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:101667200-101668800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:101667200-101669200	Enhancers	NHDF-Ad	bronchial
12	chr11:101667600-101668600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:101667600-101668600	Enhancers	NHLF	lung
14	chr11:101667600-101668800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:101667800-101668600	Enhancers	Osteobl	bone
16	chr11:101668000-101668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:101668000-101668800	Enhancers	Fetal Lung	lung
18	chr11:101668000-101669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:101668400-101668600	Enhancers	Ovary	ovary
20	chr11:101668600-101668800	Weak transcription	Ovary	ovary
21	chr11:101668600-101671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:101668800-101671400	Weak transcription	Fetal Lung	lung
23	chr11:101669200-101674200	Weak transcription	NHDF-Ad	bronchial
24	chr11:101671200-101672200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:101671400-101671800	Enhancers	Fetal Lung	lung
26	chr11:101671400-101672000	Enhancers	HepG2	liver
27	chr11:101671800-101674600	Weak transcription	Fetal Lung	lung
28	chr11:101672200-101674800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:101674200-101675200	Enhancers	NHDF-Ad	bronchial
30	chr11:101674600-101675800	Enhancers	Fetal Lung	lung
31	chr11:101674800-101675200	Enhancers	Ovary	ovary
32	chr11:101674800-101675400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:101674800-101675400	Enhancers	NHLF	lung
34	chr11:101675200-101677000	Weak transcription	NHDF-Ad	bronchial
35	chr11:101675400-101678200	Weak transcription	NHLF	lung
36	chr11:101675800-101677400	Weak transcription	Fetal Lung	lung
37	chr11:101677000-101679400	Enhancers	NHDF-Ad	bronchial
38	chr11:101677400-101682000	Enhancers	Fetal Lung	lung
39	chr11:101678200-101678600	Enhancers	NHLF	lung
40	chr11:101678200-101678800	Enhancers	HUVEC	blood vessel
41	chr11:101679400-101681600	Weak transcription	NHDF-Ad	bronchial
42	chr11:101681400-101682000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:101681600-101682000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:101681600-101682200	Enhancers	NHDF-Ad	bronchial
45	chr11:101682000-101683400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:101682000-101683600	Weak transcription	Fetal Lung	lung
47	chr11:101682200-101686400	Weak transcription	NHDF-Ad	bronchial
48	chr11:101683000-101684000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:101683400-101683600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:101683600-101683800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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