Variant report

Variant	nsv522971
Chromosome Location	chr11:62848698-62873164
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62848664..62851040-chr11:62854770..62857085,2	MCF-7	breast:
2	chr11:62848664..62851040-chr11:62854770..62857085,2	MCF-7	breast:
3	chr11:62851942..62854202-chr11:62871987..62874309,2	K562	blood:
4	chr11:62851942..62854202-chr11:62871987..62874309,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537781152	chr11:62854861-62854862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117311387	chr11:62854917-62854918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374039638	chr11:62854925-62854926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186137346	chr11:62854936-62854937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557195624	chr11:62854990-62854991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140977572	chr11:62855023-62855024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547374736	chr11:62855025-62855026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7927104	chr11:62855031-62855032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536266635	chr11:62855066-62855067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548957476	chr11:62855105-62855106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11231347	chr11:62855111-62855112	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs537634051	chr11:62855209-62855210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375519686	chr11:62855219-62855220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557977371	chr11:62855224-62855225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150211619	chr11:62855225-62855226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138727273	chr11:62855284-62855285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533909364	chr11:62855374-62855375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61355084	chr11:62855376-62855377	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs142762522	chr11:62863405-62863406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552962380	chr11:62863427-62863428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184268615	chr11:62863432-62863433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554854763	chr11:62863468-62863469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574508599	chr11:62863469-62863470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543256896	chr11:62863479-62863480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147369451	chr11:62863492-62863493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532105556	chr11:62863493-62863494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374095536	chr11:62863494-62863495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559053081	chr11:62863502-62863503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs528111522	chr11:62863509-62863510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7113279	chr11:62863518-62863519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189467728	chr11:62863519-62863520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370535827	chr11:62863526-62863527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371518525	chr11:62863538-62863539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551224216	chr11:62863565-62863566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374808719	chr11:62863570-62863571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376030248	chr11:62863575-62863576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527306932	chr11:62863597-62863598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539905445	chr11:62863612-62863613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76405384	chr11:62863620-62863621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566708196	chr11:62863624-62863625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535852110	chr11:62863660-62863661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554561525	chr11:62863678-62863679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs118006559	chr11:62863714-62863715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543191507	chr11:62863814-62863815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376175491	chr11:62863822-62863823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576644437	chr11:62863849-62863850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs545465027	chr11:62863860-62863861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1944043	chr11:62863866-62863867	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560661144	chr11:62863875-62863876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532710519	chr11:62863891-62863892	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62854800-62855400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:62855000-62855400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:62863400-62864200	Enhancers	Gastric	stomach
4	chr11:62863600-62864000	Enhancers	Fetal Intestine Large	intestine

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