Variant report

Variant	esv2758258
Chromosome Location	chr11:25191953-25365520
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
2	chr11:25258490..25261471-chr8:43091396..43094700,3	MCF-7	breast:
3	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
4	chr11:25236770..25239530-chr11:25241817..25244758,2	K562	blood:
5	chr11:25259489..25259989-chr8:43095397..43095932,2	MCF-7	breast:
6	chr11:25196548..25198799-chr11:25203562..25205354,2	MCF-7	breast:
7	chr11:25259471..25259991-chr8:43092431..43093431,2	MCF-7	breast:
8	chr11:25183407..25185037-chr11:25191634..25194000,2	K562	blood:
9	chr11:25258471..25259991-chr8:43093202..43096075,2	MCF-7	breast:
10	chr11:25259471..25260471-chr3:74708453..74709453,2	MCF-7	breast:

No data

Extended variants
information (count: 825 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139765023	chr11:25222623-25222624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs146862193	chr11:25222635-25222636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs59828364	chr11:25222671-25222672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540061219	chr11:25222683-25222684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539480214	chr11:25222717-25222718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs60566927	chr11:25222741-25222742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77265489	chr11:25222742-25222743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538174846	chr11:25222753-25222754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555339057	chr11:25222773-25222774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543433545	chr11:25222805-25222806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59688980	chr11:25222828-25222829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs540877802	chr11:25222832-25222833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144463049	chr11:25222844-25222845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577267933	chr11:25222848-25222849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146060792	chr11:25222883-25222884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs180939223	chr11:25223024-25223025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140022196	chr11:25223068-25223069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187048927	chr11:25223079-25223080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561692366	chr11:25223086-25223087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149808978	chr11:25223106-25223107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1425810	chr11:25223135-25223136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75114573	chr11:25223204-25223205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145753763	chr11:25223212-25223213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373998776	chr11:25223225-25223226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192379601	chr11:25223269-25223270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560859455	chr11:25223292-25223293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549814063	chr11:25223299-25223300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370341203	chr11:25223315-25223316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569638150	chr11:25223328-25223329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149093409	chr11:25223337-25223338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182804434	chr11:25223342-25223343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533698460	chr11:25223395-25223396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568813443	chr11:25223420-25223421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534445722	chr11:25223466-25223467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554426099	chr11:25223499-25223500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577331670	chr11:25223517-25223518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185992116	chr11:25223525-25223526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551967657	chr11:25223570-25223571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76040769	chr11:25223579-25223580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541861156	chr11:25223600-25223601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540634641	chr11:25228484-25228485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376610049	chr11:25228486-25228487	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552996299	chr11:25228510-25228511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34785331	chr11:25228514-25228515	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs149103960	chr11:25228526-25228527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs569032235	chr11:25228534-25228535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568335654	chr11:25228547-25228548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs143034120	chr11:25228583-25228584	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs182525085	chr11:25228587-25228588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567823489	chr11:25228591-25228592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25222600-25223400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:25222600-25223400	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:25222600-25223400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr11:25222800-25223400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr11:25222800-25223600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:25222800-25223600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr11:25228400-25229000	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr11:25233000-25233800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:25233000-25234000	Enhancers	Hela-S3	cervix
10	chr11:25233000-25234000	Enhancers	NHEK	skin
11	chr11:25233200-25233600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:25233200-25233600	Active TSS	Gastric	stomach
13	chr11:25233200-25233600	Enhancers	HMEC	breast
14	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:25233200-25233800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:25233200-25233800	Enhancers	Esophagus	oesophagus
17	chr11:25233400-25233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:25239200-25240600	Enhancers	Fetal Heart	heart
19	chr11:25252400-25252600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr11:25252600-25253600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:25264400-25265200	Enhancers	NHEK	skin
22	chr11:25264600-25265000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr11:25264800-25265200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:25286600-25287000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:25286600-25287000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr11:25302400-25303000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:25312400-25314800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:25313600-25313800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:25313800-25322800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:25315000-25316400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:25321200-25321400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:25339400-25340000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:25339400-25340600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:25340000-25340400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:25340400-25340800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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