Variant report

Variant	nsv1038458
Chromosome Location	chr11:101662199-101712638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:101686463..101689388-chr11:101690529..101692168,2	K562	blood:
2	chr11:101686463..101689388-chr11:101690529..101692168,2	K562	blood:
3	chr11:101631523..101632519-chr11:101671488..101672112,2	MCF-7	breast:
4	chr11:101710531..101712863-chr11:101715498..101717187,2	K562	blood:

Extended variants
information (count: 1611 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1611 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12577395	chr11:101662199-101662200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541250789	chr11:101662203-101662204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564272355	chr11:101662217-101662218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533098179	chr11:101662238-101662239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549908643	chr11:101662240-101662241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186717267	chr11:101662243-101662244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375251243	chr11:101662267-101662268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528918468	chr11:101662348-101662349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190709865	chr11:101662373-101662374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369399631	chr11:101662392-101662393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182947945	chr11:101662430-101662431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377424597	chr11:101662432-101662433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187770127	chr11:101662488-101662489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537202646	chr11:101662489-101662490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576954357	chr11:101662513-101662514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191079075	chr11:101662548-101662549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182870885	chr11:101662576-101662577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572596048	chr11:101662583-101662584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187510605	chr11:101662619-101662620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553072883	chr11:101662627-101662628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142245793	chr11:101662669-101662670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368653043	chr11:101662673-101662674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572355527	chr11:101662685-101662686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540956194	chr11:101662689-101662690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192321189	chr11:101662716-101662717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184686807	chr11:101662717-101662718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142841343	chr11:101662727-101662728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147470730	chr11:101662859-101662860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528963346	chr11:101662880-101662881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188380061	chr11:101662883-101662884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559083367	chr11:101662910-101662911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528048655	chr11:101662914-101662915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551661229	chr11:101662919-101662920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148536042	chr11:101662931-101662932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537263529	chr11:101662941-101662942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550749025	chr11:101662946-101662947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141820738	chr11:101662953-101662954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192211674	chr11:101662965-101662966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553375914	chr11:101662976-101662977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573163881	chr11:101663003-101663004	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546033742	chr11:101663062-101663063	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558104815	chr11:101663106-101663107	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577972499	chr11:101663163-101663164	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184536745	chr11:101663183-101663184	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563450597	chr11:101663239-101663240	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573727064	chr11:101663255-101663256	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542368136	chr11:101663262-101663263	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559353799	chr11:101663307-101663308	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528097129	chr11:101663326-101663327	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562952039	chr11:101663361-101663362	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Breast cancer	17142309	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:100 , 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	chr11:101663000-101663400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr11:101663200-101663600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
5	chr11:101663200-101664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:101663400-101663800	Enhancers	Ovary	ovary
7	chr11:101663400-101664400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr11:101663400-101665000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr11:101663400-101665000	Enhancers	NHDF-Ad	bronchial
10	chr11:101663600-101663800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr11:101663600-101664000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr11:101663600-101664400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:101663600-101664600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:101663800-101664000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:101663800-101664600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr11:101663800-101665000	Enhancers	Osteobl	bone
17	chr11:101663800-101668400	Weak transcription	Ovary	ovary
18	chr11:101664000-101664600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:101664000-101665000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:101664200-101664600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:101664200-101664800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:101664400-101665200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:101664600-101667200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr11:101664600-101667600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:101665000-101667200	Weak transcription	NHDF-Ad	bronchial
26	chr11:101665000-101667800	Weak transcription	Osteobl	bone
27	chr11:101665000-101668000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:101665200-101668000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:101667200-101668800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:101667200-101669200	Enhancers	NHDF-Ad	bronchial
31	chr11:101667600-101668600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:101667600-101668600	Enhancers	NHLF	lung
33	chr11:101667600-101668800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:101667800-101668600	Enhancers	Osteobl	bone
35	chr11:101668000-101668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:101668000-101668800	Enhancers	Fetal Lung	lung
37	chr11:101668000-101669000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:101668400-101668600	Enhancers	Ovary	ovary
39	chr11:101668600-101668800	Weak transcription	Ovary	ovary
40	chr11:101668600-101671200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:101668800-101671400	Weak transcription	Fetal Lung	lung
42	chr11:101669200-101674200	Weak transcription	NHDF-Ad	bronchial
43	chr11:101671200-101672200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:101671400-101671800	Enhancers	Fetal Lung	lung
45	chr11:101671400-101672000	Enhancers	HepG2	liver
46	chr11:101671800-101674600	Weak transcription	Fetal Lung	lung
47	chr11:101672200-101674800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:101674200-101675200	Enhancers	NHDF-Ad	bronchial
49	chr11:101674600-101675800	Enhancers	Fetal Lung	lung
50	chr11:101674800-101675200	Enhancers	Ovary	ovary

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