Variant report

Variant	nsv975390
Chromosome Location	chr11:62837345-62850593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62848664..62851040-chr11:62854770..62857085,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544004260	chr11:62848010-62848011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114753444	chr11:62848021-62848022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532922948	chr11:62848033-62848034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546571739	chr11:62848034-62848035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559921438	chr11:62848039-62848040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35839122	chr11:62848053-62848054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529317001	chr11:62848069-62848070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116618100	chr11:62848070-62848071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549662424	chr11:62848087-62848088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569575412	chr11:62848116-62848117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538402032	chr11:62848135-62848136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34936614	chr11:62848165-62848166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551728297	chr11:62848181-62848182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111597569	chr11:62848184-62848185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148836630	chr11:62848186-62848187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188222815	chr11:62848189-62848190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565967566	chr11:62848216-62848217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536270930	chr11:62848254-62848255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555194054	chr11:62848315-62848316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575182847	chr11:62848318-62848319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369807279	chr11:62848342-62848343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531515623	chr11:62848366-62848367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10897341	chr11:62848367-62848368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577645435	chr11:62848381-62848382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376649497	chr11:62848413-62848414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11231340	chr11:62848445-62848446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11231341	chr11:62848487-62848488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75726395	chr11:62848517-62848518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370756811	chr11:62848518-62848519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373626890	chr11:62848534-62848535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs11231342	chr11:62848568-62848569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142507239	chr11:62848585-62848586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571785330	chr11:62848589-62848590	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20409316	CNVD
Spinal muscular atrophy	17160897	CNVD
Retinitis pigmentosa	17160897	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62848000-62848600	Enhancers	HepG2	liver

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