Variant report

Variant	nsv553864
Chromosome Location	chr11:25244001-25433466
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:25383494..25385601-chr11:25405525..25407824,2	K562	blood:
2	chr11:25383494..25385601-chr11:25405525..25407824,2	K562	blood:
3	chr11:25409717..25412034-chr11:25416145..25417905,2	K562	blood:
4	chr11:25258471..25259991-chr8:43093202..43096075,2	MCF-7	breast:
5	chr11:25259471..25260471-chr3:74708453..74709453,2	MCF-7	breast:
6	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
7	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
8	chr11:25415265..25417629-chr11:25420045..25422355,2	MCF-7	breast:
9	chr11:25259471..25259991-chr8:43092431..43093431,2	MCF-7	breast:
10	chr11:25378401..25379146-chr13:47547550..47548348,2	MCF-7	breast:
11	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
12	chr11:25409717..25412034-chr11:25416145..25417905,2	K562	blood:
13	chr11:25415265..25417629-chr11:25420045..25422355,2	MCF-7	breast:

No data

Extended variants
information (count: 1128 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190089617	chr11:25252409-25252410	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs577545514	chr11:25252412-25252413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542280841	chr11:25252435-25252436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182372537	chr11:25252497-25252498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11825897	chr11:25252515-25252516	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187045478	chr11:25252517-25252518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191135864	chr11:25252521-25252522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs76675677	chr11:25252529-25252530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs34787631	chr11:25252534-25252535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs572419715	chr11:25252599-25252600	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs561158781	chr11:25252609-25252610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561937028	chr11:25252615-25252616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541491022	chr11:25252619-25252620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564355644	chr11:25252645-25252646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141616809	chr11:25252660-25252661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs111556380	chr11:25252662-25252663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182928086	chr11:25252665-25252666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112254638	chr11:25252667-25252668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184390425	chr11:25252673-25252674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548873550	chr11:25252676-25252677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142730198	chr11:25252682-25252683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147511150	chr11:25252701-25252702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112336878	chr11:25252719-25252720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571196676	chr11:25252725-25252726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536646657	chr11:25252774-25252775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556448349	chr11:25252775-25252776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150072432	chr11:25252783-25252784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535672755	chr11:25252833-25252834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555709134	chr11:25252843-25252844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572583399	chr11:25252857-25252858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541205942	chr11:25252858-25252859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35777593	chr11:25252869-25252870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs578069686	chr11:25252907-25252908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148725121	chr11:25253015-25253016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563593492	chr11:25253039-25253040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs16913749	chr11:25253144-25253145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542887430	chr11:25253147-25253148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559319775	chr11:25253160-25253161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550623294	chr11:25253210-25253211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528281741	chr11:25253222-25253223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36090436	chr11:25253235-25253236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551235069	chr11:25253237-25253238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570969759	chr11:25253238-25253239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530439872	chr11:25253255-25253256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550131458	chr11:25253272-25253273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568638782	chr11:25253277-25253278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11028522	chr11:25253285-25253286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556013573	chr11:25253293-25253294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555002738	chr11:25253367-25253368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35279993	chr11:25253404-25253405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Burkitt''s lymphoma	19759907	CNVD
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
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Renal cell carcinoma	18194544	CNVD
Myelofibrosis	22110671	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25252400-25252600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
2	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:25264400-25265200	Enhancers	NHEK	skin
4	chr11:25264600-25265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:25264800-25265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:25286600-25287000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:25286600-25287000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:25312400-25314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:25313600-25313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:25313800-25322800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:25315000-25316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:25321200-25321400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:25339400-25340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:25339400-25340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:25340000-25340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:25340400-25340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:25372400-25373000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:25377200-25378400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr11:25378200-25380200	Enhancers	Fetal Heart	heart
21	chr11:25380200-25381600	Weak transcription	Fetal Heart	heart
22	chr11:25381600-25382800	Enhancers	Fetal Heart	heart
23	chr11:25404200-25404400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:25405400-25410000	Weak transcription	Right Atrium	heart
25	chr11:25424000-25424200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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