Variant report

Variant	nsv897120
Chromosome Location	chr11:25062716-25145902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
2	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
3	chr11:25134241..25135929-chr11:25140334..25142884,3	K562	blood:
4	chr11:25131462..25133230-chr11:25136109..25137938,2	MCF-7	breast:
5	chr11:22849480..22851377-chr11:25062549..25065391,2	K562	blood:

Variant related genes	Relation type
ENSG00000246225	chromatin interactions
ENSG00000198168	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12271132	chr11:25062716-25062717	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566900266	chr11:25062722-25062723	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535875138	chr11:25062755-25062756	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs549865945	chr11:25062759-25062760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149831831	chr11:25062760-25062761	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs115531981	chr11:25062763-25062764	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs76479021	chr11:25062799-25062800	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs537793605	chr11:25062805-25062806	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs535494330	chr11:25062829-25062830	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs34793974	chr11:25062857-25062858	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs578126953	chr11:25062934-25062935	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs534479683	chr11:25062985-25062986	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557526643	chr11:25063058-25063059	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182667578	chr11:25063059-25063060	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs113511783	chr11:25063084-25063085	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541494600	chr11:25063103-25063104	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145823411	chr11:25063109-25063110	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559492638	chr11:25063141-25063142	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs60112958	chr11:25063142-25063143	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201957500	chr11:25063149-25063150	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200817027	chr11:25063190-25063191	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs187315433	chr11:25063236-25063237	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10742066	chr11:25063237-25063238	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs546354788	chr11:25063264-25063265	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530645791	chr11:25063295-25063296	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs77092587	chr11:25063330-25063331	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560687500	chr11:25063348-25063349	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs190274026	chr11:25063356-25063357	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs118142487	chr11:25063389-25063390	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs566352062	chr11:25063405-25063406	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs182094549	chr11:25063439-25063440	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187943008	chr11:25063449-25063450	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs75723427	chr11:25063465-25063466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148972063	chr11:25063466-25063467	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377646219	chr11:25063471-25063472	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374572153	chr11:25063494-25063495	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574136100	chr11:25063521-25063522	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193039594	chr11:25063522-25063523	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553298582	chr11:25063529-25063530	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs573176497	chr11:25063551-25063552	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545266459	chr11:25063552-25063553	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10834588	chr11:25063572-25063573	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575083511	chr11:25063583-25063584	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574476712	chr11:25063653-25063654	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs185834073	chr11:25063701-25063702	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs560750217	chr11:25063705-25063706	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs529698185	chr11:25063706-25063707	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs188299467	chr11:25063711-25063712	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs541894822	chr11:25063754-25063755	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs61615401	chr11:25063765-25063766	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:25068600-25069400	Enhancers	Brain Germinal Matrix	brain
2	chr11:25069400-25069600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr11:25069400-25070000	Enhancers	Fetal Heart	heart
4	chr11:25069600-25070000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:25069600-25070600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:25069800-25071600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:25070000-25070400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:25070000-25072200	Weak transcription	Fetal Heart	heart
9	chr11:25070400-25071000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:25070600-25071000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr11:25070600-25071000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr11:25070600-25071200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:25070600-25071800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:25072200-25074000	Enhancers	Fetal Heart	heart
15	chr11:25079000-25079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr11:25086600-25087000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr11:25086800-25088000	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr11:25086800-25088400	Enhancers	Hela-S3	cervix
19	chr11:25086800-25088600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:25086800-25088600	Enhancers	NHEK	skin
21	chr11:25087000-25088600	Enhancers	NH-A	brain
22	chr11:25087000-25091200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:25087600-25088200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:25088600-25090000	Weak transcription	NHEK	skin
25	chr11:25088600-25090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:25089800-25090600	Enhancers	HMEC	breast
27	chr11:25090000-25090600	Enhancers	NHEK	skin
28	chr11:25090200-25090600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:25115000-25115600	Enhancers	Liver	Liver
30	chr11:25115600-25115800	Flanking Active TSS	Liver	Liver
31	chr11:25115800-25116200	Enhancers	Liver	Liver

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