Variant report

Variant	nsv1042464
Chromosome Location	chr11:107337941-107353313
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	chr11:107342962..107345043-chr11:107346726..107348566,2	K562	blood:
2	chr11:107342962..107345043-chr11:107346726..107348566,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375138936	chr11:107344201-107344202	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568775843	chr11:107344227-107344228	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151038844	chr11:107344242-107344243	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140972020	chr11:107344247-107344248	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572650588	chr11:107344354-107344355	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35220178	chr11:107344395-107344396	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536184823	chr11:107344458-107344459	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs733811	chr11:107344568-107344569	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs185346253	chr11:107344592-107344593	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573867009	chr11:107344601-107344602	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544592335	chr11:107344607-107344608	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563230670	chr11:107344642-107344643	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569461362	chr11:107344667-107344668	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545430363	chr11:107344715-107344716	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs624584	chr11:107344724-107344725	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs527797115	chr11:107344729-107344730	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369684066	chr11:107344758-107344759	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs373682364	chr11:107344863-107344864	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189425282	chr11:107344873-107344874	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568284030	chr11:107344889-107344890	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373831794	chr11:107344900-107344901	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550488225	chr11:107344930-107344931	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149803854	chr11:107344973-107344974	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539351527	chr11:107344979-107344980	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547499092	chr11:107344998-107344999	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181946369	chr11:107345027-107345028	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533660941	chr11:107345049-107345050	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577767616	chr11:107345089-107345090	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185124826	chr11:107345214-107345215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533871557	chr11:107345238-107345239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376722893	chr11:107345248-107345249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs556477775	chr11:107345249-107345250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs117143906	chr11:107345355-107345356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181154685	chr11:107345364-107345365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140990143	chr11:107345366-107345367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527660050	chr11:107345373-107345374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543159230	chr11:107345400-107345401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77386164	chr11:107345456-107345457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144818556	chr11:107345486-107345487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550802547	chr11:107345534-107345535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568950460	chr11:107345547-107345548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533269240	chr11:107345602-107345603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551355896	chr11:107345622-107345623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566145101	chr11:107345643-107345644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138756060	chr11:107345656-107345657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548548049	chr11:107345683-107345684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567069749	chr11:107345795-107345796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78451503	chr11:107349011-107349012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549061319	chr11:107349074-107349075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs118141776	chr11:107349147-107349148	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
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107344200-107345000	Enhancers	Fetal Kidney	kidney
2	chr11:107344200-107345200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr11:107344600-107345800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:107349000-107349600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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