Variant report

Variant	nsv526555
Chromosome Location	chr11:33868607-33886294
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:35)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33872688..33874387-chr11:33879128..33880698,2	K562	blood:
2	chr11:33879099..33880070-chr11:34009268..34010203,3	K562	blood:
3	chr11:33879026..33879691-chr11:34005925..34006878,3	K562	blood:
4	chr11:33879110..33879929-chr11:34380779..34381404,2	MCF-7	breast:
5	chr11:33879126..33879709-chr11:33991081..33991696,2	MCF-7	breast:
6	chr11:33877952..33881017-chr11:34009873..34013165,3	K562	blood:
7	chr11:33872816..33875207-chr11:33883791..33886001,2	K562	blood:
8	chr11:33885094..33885726-chr11:33992532..33993193,2	MCF-7	breast:
9	chr11:33885865..33888215-chr11:33889730..33891698,2	MCF-7	breast:
10	chr11:33879105..33880102-chr11:33992125..33993189,12	MCF-7	breast:
11	chr11:33872816..33875207-chr11:33883791..33886001,2	K562	blood:
12	chr11:33878016..33880901-chr11:34126864..34128785,3	K562	blood:
13	chr11:33879151..33880046-chr11:33974610..33975192,2	K562	blood:
14	chr11:33872779..33875154-chr11:33876748..33878669,2	K562	blood:
15	chr11:33881841..33887259-chr11:33889752..33892480,4	MCF-7	breast:
16	chr11:33872688..33874387-chr11:33879128..33880698,2	K562	blood:
17	chr11:33874105..33876968-chr11:33882368..33884161,2	K562	blood:
18	chr11:33872779..33875154-chr11:33876748..33878669,2	K562	blood:
19	chr11:33879158..33879864-chr11:34380802..34381795,2	MCF-7	breast:
20	chr11:33879745..33881720-chr11:34073221..34074957,2	K562	blood:
21	chr11:33879047..33880255-chr11:33992290..33993369,17	K562	blood:
22	chr11:33879142..33880076-chr11:34005734..34006559,3	MCF-7	breast:
23	chr11:33877966..33880753-chr11:34065562..34068525,2	K562	blood:
24	chr11:33879125..33880047-chr11:34009298..34010145,4	MCF-7	breast:
25	chr11:33883202..33885459-chr11:33892466..33895419,2	K562	blood:
26	chr11:33878149..33880931-chr11:33888763..33890391,2	MCF-7	breast:
27	chr11:33877921..33880595-chr11:33992729..33995031,2	K562	blood:
28	chr11:33879166..33880057-chr11:34009273..34010144,4	MCF-7	breast:
29	chr11:33859014..33861759-chr11:33879485..33881368,2	MCF-7	breast:
30	chr11:33883902..33886666-chr11:34381221..34383098,2	MCF-7	breast:
31	chr11:33874105..33876968-chr11:33882368..33884161,2	K562	blood:
32	chr11:33878140..33879025-chr11:33992385..33992998,2	K562	blood:
33	chr11:33866286..33868517-chr11:33869856..33871770,2	K562	blood:
34	chr11:33879085..33880119-chr11:33992259..33993178,5	MCF-7	breast:
35	chr11:33882376..33884796-chr11:34073264..34076092,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LMO2-3	chr11:33874884-33875538	NONHSAT018727

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LMO2	hsa-miR-223-3p	chr11:33880656-33880649
2	LMO2	hsa-miR-223-3p	chr11:33880650-33880671

Variant related genes	Relation type
ENSG00000135372	chromatin interactions
ENSG00000135363	chromatin interactions
ENSG00000135387	chromatin interactions

Extended variants
information (count: 705 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11032423	chr11:33868607-33868608	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs577534265	chr11:33868613-33868614	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs375250786	chr11:33868632-33868633	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs533806234	chr11:33868639-33868640	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs553936479	chr11:33868680-33868681	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs374937180	chr11:33868719-33868720	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs543148986	chr11:33868720-33868721	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs562818468	chr11:33868721-33868722	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs576576147	chr11:33868727-33868728	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs150725814	chr11:33868753-33868754	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs139050798	chr11:33868796-33868797	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs77551475	chr11:33868813-33868814	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs72911591	chr11:33868816-33868817	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs369244295	chr11:33868842-33868843	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs149895518	chr11:33868857-33868858	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs377328210	chr11:33868883-33868884	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs551249010	chr11:33868932-33868933	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs11032424	chr11:33869097-33869098	Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs199610803	chr11:33869142-33869143	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs547722368	chr11:33869156-33869157	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs116998521	chr11:33869180-33869181	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs568634754	chr11:33869205-33869206	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs185345958	chr11:33869218-33869219	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs551457009	chr11:33869231-33869232	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs550974003	chr11:33869258-33869259	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs548317098	chr11:33869277-33869278	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs374303179	chr11:33869310-33869311	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs117176625	chr11:33869318-33869319	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs534143821	chr11:33869362-33869363	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs534012318	chr11:33869363-33869364	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs78921304	chr11:33869365-33869366	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs552292138	chr11:33869366-33869367	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs556359216	chr11:33869411-33869412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570307654	chr11:33869473-33869474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201734869	chr11:33869536-33869537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144951631	chr11:33869546-33869547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545470695	chr11:33869560-33869561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149073333	chr11:33869576-33869577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572337880	chr11:33869611-33869612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115687399	chr11:33869642-33869643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555694730	chr11:33869705-33869706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143427290	chr11:33869710-33869711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10836121	chr11:33869713-33869714	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs563502647	chr11:33869714-33869715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534115391	chr11:33869715-33869716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574659275	chr11:33869738-33869739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190240423	chr11:33869838-33869839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146753940	chr11:33869839-33869840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140442425	chr11:33869889-33869890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144965857	chr11:33869896-33869897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Acute lymphoblastic leukemia	19100363	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33864400-33872400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:33864400-33874000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:33864400-33874200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:33864800-33880600	Weak transcription	Brain Anterior Caudate	brain
5	chr11:33867200-33878000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:33868600-33869200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:33868600-33869200	Bivalent Enhancer	NHDF-Ad	bronchial
8	chr11:33868600-33869400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:33869200-33874000	Weak transcription	Adipose Nuclei	Adipose
10	chr11:33870400-33870600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:33870400-33872400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr11:33870400-33873800	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:33871000-33873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:33871600-33884800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:33871800-33874000	Weak transcription	Lung	lung
16	chr11:33871800-33882200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:33872000-33873800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:33872000-33873800	Weak transcription	Spleen	Spleen
19	chr11:33872000-33874000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr11:33872200-33873000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:33872200-33882600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:33872200-33886200	Weak transcription	Left Ventricle	heart
23	chr11:33872400-33872800	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:33872400-33874000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:33872400-33874000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:33872400-33880600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr11:33872400-33885000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr11:33872600-33886000	Weak transcription	HUVEC	blood vessel
29	chr11:33873600-33880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:33873800-33874600	Strong transcription	Spleen	Spleen
31	chr11:33873800-33875000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:33873800-33877000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:33873800-33879600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:33874000-33874200	ZNF genes & repeats	Lung	lung
35	chr11:33874000-33874600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:33874000-33874600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr11:33874000-33874600	Strong transcription	Adipose Nuclei	Adipose
38	chr11:33874000-33874600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:33874000-33885000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr11:33874200-33874600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
41	chr11:33874200-33876800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:33874200-33882600	Weak transcription	Lung	lung
43	chr11:33874600-33876200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:33874600-33876200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr11:33874600-33876600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:33874600-33877000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:33874600-33879800	Weak transcription	Adipose Nuclei	Adipose
48	chr11:33874600-33880600	Weak transcription	Spleen	Spleen
49	chr11:33874800-33885000	Weak transcription	Primary B cells from cord blood	blood
50	chr11:33875000-33876600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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