Variant report

Variant	nsv525122
Chromosome Location	chr11:107761550-107766363
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	chr11:107764106..107766311-chr11:107767484..107769040,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553671254	chr11:107763530-107763531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200868460	chr11:107763548-107763549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189385352	chr11:107763554-107763555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554694	chr11:107763576-107763577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs475925	chr11:107763593-107763594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192425802	chr11:107763608-107763609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553226310	chr11:107763637-107763638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554251385	chr11:107763650-107763651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183675121	chr11:107763709-107763710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144272495	chr11:107763753-107763754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151056289	chr11:107763758-107763759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374225672	chr11:107763759-107763760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552865	chr11:107763770-107763771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs477753	chr11:107763797-107763798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78607269	chr11:107763807-107763808	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs369168142	chr11:107763812-107763813	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs541739176	chr11:107763815-107763816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139790213	chr11:107763852-107763853	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs371310014	chr11:107763874-107763875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs188395541	chr11:107763881-107763882	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs181220798	chr11:107763952-107763953	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs570168328	chr11:107764014-107764015	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs151314691	chr11:107764020-107764021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs374300340	chr11:107764021-107764022	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs141580292	chr11:107764023-107764024	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs79835383	chr11:107764024-107764025	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370152521	chr11:107764025-107764026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs530909850	chr11:107764046-107764047	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs552306128	chr11:107764065-107764066	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs543494225	chr11:107764081-107764082	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34463774	chr11:107764154-107764155	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs185865886	chr11:107764155-107764156	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs732098	chr11:107764164-107764165	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs113892665	chr11:107764165-107764166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553689854	chr11:107764169-107764170	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs12099420	chr11:107764172-107764173	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs577124209	chr11:107764175-107764176	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554077701	chr11:107764226-107764227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs118024459	chr11:107764247-107764248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575747389	chr11:107764320-107764321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs190150563	chr11:107764341-107764342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558245035	chr11:107764375-107764376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182325454	chr11:107764460-107764461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546063554	chr11:107764478-107764479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149919931	chr11:107764509-107764510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115781346	chr11:107764510-107764511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs57289253	chr11:107764528-107764529	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs536006734	chr11:107765085-107765086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547965640	chr11:107765128-107765129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542388369	chr11:107765153-107765154	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intracranial aneurysm	16715129	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Mantle cell lymphoma	19029149	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Obesity	19966786	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107763400-107763800	Enhancers	HMEC	breast
2	chr11:107763600-107763800	Enhancers	NHEK	skin
3	chr11:107763600-107764600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:107763800-107764200	Flanking Active TSS	HMEC	breast
5	chr11:107763800-107764200	Flanking Active TSS	NHEK	skin
6	chr11:107763800-107764400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:107763800-107764600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:107764200-107764400	Enhancers	HMEC	breast
9	chr11:107764200-107764400	Enhancers	NHEK	skin
10	chr11:107765000-107765200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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