Variant report

Variant	nsv983038
Chromosome Location	chr11:71260347-71264395
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	chr11:71257442..71259140-chr11:71259571..71262525,2	K562	blood:
2	chr11:71253515..71257343-chr11:71260479..71262893,3	MCF-7	breast:

Extended variants
information (count: 140 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2665	chr11:71260348-71260349	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560941810	chr11:71260363-71260364	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs74818399	chr11:71260368-71260369	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535896998	chr11:71260422-71260423	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs183790886	chr11:71260563-71260564	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs527771599	chr11:71260567-71260568	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs572430237	chr11:71260601-71260602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546193325	chr11:71260602-71260603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188722338	chr11:71260690-71260691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549126770	chr11:71260699-71260700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192676354	chr11:71260712-71260713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11234128	chr11:71260721-71260722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543978071	chr11:71260769-71260770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560965865	chr11:71260833-71260834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10792770	chr11:71260848-71260849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs528954591	chr11:71260852-71260853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540680615	chr11:71260956-71260957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183371290	chr11:71260972-71260973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151101088	chr11:71261062-71261063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7358341	chr11:71261078-71261079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569911351	chr11:71261113-71261114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs17161606	chr11:71261134-71261135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549156033	chr11:71261225-71261226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10792774	chr11:71261263-71261264	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs528259146	chr11:71261265-71261266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373437007	chr11:71261279-71261280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566097758	chr11:71261290-71261291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7358435	chr11:71261291-71261292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186629380	chr11:71261363-71261364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539798024	chr11:71261382-71261383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191481384	chr11:71261388-71261389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576666484	chr11:71261420-71261421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373346675	chr11:71261535-71261536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200458220	chr11:71261560-71261561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59489764	chr11:71261569-71261570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537294141	chr11:71261588-71261589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571961286	chr11:71261619-71261620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11604725	chr11:71261650-71261651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs184631784	chr11:71261683-71261684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540746107	chr11:71261738-71261739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74746102	chr11:71261757-71261758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35134773	chr11:71261845-71261846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374504974	chr11:71261855-71261856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372645726	chr11:71261880-71261881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540157808	chr11:71261953-71261954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577596233	chr11:71261995-71261996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544975403	chr11:71262000-71262001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189951780	chr11:71262002-71262003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77322798	chr11:71262003-71262004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10898286	chr11:71262005-71262006	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71256800-71262200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:71258600-71260400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr11:71258600-71260600	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr11:71258600-71263600	Enhancers	GM12878-XiMat	blood
5	chr11:71259000-71260400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr11:71259200-71260400	Flanking Active TSS	HepG2	liver
7	chr11:71259400-71266200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:71260000-71260600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:71260200-71261000	Weak transcription	Left Ventricle	heart
10	chr11:71260200-71261000	Weak transcription	Pancreas	Pancrea
11	chr11:71260400-71262000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:71260400-71262200	Enhancers	HepG2	liver
13	chr11:71260800-71261000	Enhancers	Right Atrium	heart
14	chr11:71260800-71261200	Enhancers	Spleen	Spleen
15	chr11:71261000-71261200	Enhancers	Left Ventricle	heart
16	chr11:71261000-71261200	Enhancers	Lung	lung
17	chr11:71261000-71261200	Enhancers	Pancreas	Pancrea
18	chr11:71261000-71261400	Enhancers	Primary B cells from peripheral blood	blood
19	chr11:71261200-71266600	Weak transcription	Pancreas	Pancrea
20	chr11:71262000-71263400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr11:71262200-71263600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:71262400-71263200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:71262600-71263200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr11:71262600-71263400	Enhancers	Primary monocytes fromperipheralblood	blood

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