Variant report

Variant	nsv897189
Chromosome Location	chr11:32677070-32751498
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:32734751..32735852-chr11:32814047..32815123,4	K562	blood:
2	chr11:32704711..32706720-chr11:32913831..32915608,2	K562	blood:
3	chr11:32694547..32697464-chr11:32699936..32702319,2	K562	blood:
4	chr11:32699830..32701629-chr11:32708970..32710563,2	K562	blood:
5	chr11:32694547..32697464-chr11:32699936..32702319,2	K562	blood:
6	chr11:32738397..32740619-chr11:33277961..33280390,2	MCF-7	breast:
7	chr11:32723875..32726854-chr11:32913788..32916126,2	K562	blood:
8	chr11:32734959..32735691-chr11:32814406..32814938,2	MCF-7	breast:
9	chr11:32741454..32744033-chr11:32750070..32751774,2	K562	blood:
10	chr11:32699830..32701629-chr11:32708970..32710563,2	K562	blood:
11	chr11:32734492..32735804-chr11:32813911..32815565,5	MCF-7	breast:
12	chr11:32741454..32744033-chr11:32750070..32751774,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110422	chromatin interactions
ENSG00000060749	chromatin interactions

Extended variants
information (count: 1331 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1331 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117777755	chr11:32678626-32678627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80096447	chr11:32678642-32678643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72910965	chr11:32678656-32678657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs35186796	chr11:32678764-32678765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72910967	chr11:32678784-32678785	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371398489	chr11:32678814-32678815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144790792	chr11:32678821-32678822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562524639	chr11:32678845-32678846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531572809	chr11:32678887-32678888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147510886	chr11:32678959-32678960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376648802	chr11:32679000-32679001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145650925	chr11:32679200-32679201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573091734	chr11:32679203-32679204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182795529	chr11:32679267-32679268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538891828	chr11:32679268-32679269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558730076	chr11:32679287-32679288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572365212	chr11:32679325-32679326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535002414	chr11:32679381-32679382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553461532	chr11:32679417-32679418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374383835	chr11:32679502-32679503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188156646	chr11:32679521-32679522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145432873	chr11:32679551-32679552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542345661	chr11:32679559-32679560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11309519	chr11:32679570-32679571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565060128	chr11:32679576-32679577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562645261	chr11:32679581-32679582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375590144	chr11:32679582-32679583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369971279	chr11:32679588-32679589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4359178	chr11:32679597-32679598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs545181661	chr11:32679598-32679599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4531440	chr11:32679609-32679610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545541935	chr11:32679635-32679636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4531441	chr11:32679638-32679639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74621265	chr11:32679648-32679649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1739852	chr11:32679676-32679677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115403420	chr11:32679683-32679684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547696210	chr11:32679709-32679710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561110060	chr11:32679751-32679752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77005905	chr11:32679780-32679781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371849714	chr11:32679828-32679829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570084783	chr11:32679834-32679835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs578184906	chr11:32679874-32679875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142077917	chr11:32679906-32679907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374564775	chr11:32679954-32679955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191785639	chr11:32679961-32679962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12223202	chr11:32679973-32679974	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555281097	chr11:32680009-32680010	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs567144344	chr11:32680049-32680050	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548575994	chr11:32680052-32680053	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs555894226	chr11:32680081-32680082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Breast cancer	21364760	CNVD
Glioblastoma multiforme	22286061	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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32678600-32679000	Enhancers	Fetal Heart	heart
2	chr11:32679200-32680200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:32679600-32680000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:32679600-32680200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:32679600-32681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:32679600-32681600	Enhancers	HMEC	breast
7	chr11:32679600-32681600	Enhancers	NHEK	skin
8	chr11:32679800-32680200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr11:32679800-32681000	Enhancers	NH-A	brain
10	chr11:32679800-32681600	Enhancers	NHDF-Ad	bronchial
11	chr11:32680000-32680200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:32680000-32680800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:32680200-32680600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr11:32680200-32680800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:32680200-32681000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:32680200-32681200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:32680200-32681400	Enhancers	A549	lung
18	chr11:32680600-32681000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr11:32680800-32681600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:32681000-32681400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr11:32681000-32682000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:32681200-32681400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:32692200-32693000	Enhancers	Rectal Smooth Muscle	rectum
24	chr11:32692600-32693600	Enhancers	Fetal Heart	heart
25	chr11:32693400-32693800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:32708800-32709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:32711000-32725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr11:32714400-32714600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:32714400-32714600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr11:32714600-32716400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:32716200-32717800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:32716400-32717800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr11:32716800-32717800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:32717200-32717800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:32719800-32720600	Flanking Active TSS	A549	lung
36	chr11:32720000-32720400	Enhancers	HepG2	liver
37	chr11:32720600-32721000	Enhancers	A549	lung
38	chr11:32722800-32724200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:32722800-32724600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:32723000-32723600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:32723000-32723600	Enhancers	Primary hematopoietic stem cells	blood
42	chr11:32723000-32723800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:32723200-32723800	Enhancers	Dnd41	blood
44	chr11:32723400-32723800	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:32723600-32724600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:32723800-32725600	Weak transcription	Dnd41	blood
47	chr11:32724600-32724800	Enhancers	Primary hematopoietic stem cells	blood
48	chr11:32725600-32725800	Enhancers	Gastric	stomach
49	chr11:32725600-32726200	Enhancers	H1 Cell Line	embryonic stem cell
50	chr11:32725600-32727200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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