Variant report

Variant	nsv519769
Chromosome Location	chr10:118022076-118024544
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	chr10:117900756..117903776-chr10:118021807..118024348,3	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7920266	chr10:118022076-118022077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs139030048	chr10:118022096-118022097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540934100	chr10:118022123-118022124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559172960	chr10:118022124-118022125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369471618	chr10:118022131-118022132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529883013	chr10:118022133-118022134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372182977	chr10:118022175-118022176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4333937	chr10:118022194-118022195	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs146292763	chr10:118022216-118022217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191070661	chr10:118022240-118022241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551958472	chr10:118022274-118022275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116713357	chr10:118022288-118022289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114484233	chr10:118022320-118022321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548114666	chr10:118022437-118022438	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573490275	chr10:118022499-118022500	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183215245	chr10:118022514-118022515	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139304130	chr10:118022518-118022519	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536890155	chr10:118022570-118022571	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368905491	chr10:118022574-118022575	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570083073	chr10:118022576-118022577	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537577371	chr10:118022594-118022595	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2532695	chr10:118022595-118022596	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569266216	chr10:118022624-118022625	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138224696	chr10:118022742-118022743	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186967671	chr10:118022760-118022761	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79532081	chr10:118022775-118022776	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574374071	chr10:118022783-118022784	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537683004	chr10:118022790-118022791	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541649733	chr10:118022798-118022799	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192672486	chr10:118022799-118022800	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530584285	chr10:118022861-118022862	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376933673	chr10:118022915-118022916	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs556017947	chr10:118022926-118022927	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369285051	chr10:118022933-118022934	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs141868061	chr10:118022982-118022983	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563979019	chr10:118022994-118022995	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537355160	chr10:118023048-118023049	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150654164	chr10:118023096-118023097	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117224018	chr10:118023252-118023253	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560125742	chr10:118023279-118023280	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75503766	chr10:118023295-118023296	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548575264	chr10:118023356-118023357	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555370141	chr10:118023379-118023380	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537198929	chr10:118023395-118023396	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2577353	chr10:118023446-118023447	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs570600830	chr10:118023456-118023457	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183121752	chr10:118023482-118023483	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12241344	chr10:118023485-118023486	Genic enhancers Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574463983	chr10:118023546-118023547	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535376301	chr10:118023613-118023614	Enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Paraganglioma	17535989	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cornelia de Lange syndrome	24599119	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	16397240	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hepatocellular carcinoma	16750200	CNVD
Barrett''s syndrome	19417022	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neuroticism	17667963	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118014600-118024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:118014800-118022200	Weak transcription	Liver	Liver
3	chr10:118015800-118022400	Weak transcription	Fetal Kidney	kidney
4	chr10:118016000-118023000	Weak transcription	HSMMtube	muscle
5	chr10:118016200-118024400	Weak transcription	HSMM	muscle
6	chr10:118017200-118022200	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:118017600-118022200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:118017600-118022200	Weak transcription	Fetal Stomach	stomach
9	chr10:118017600-118022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:118017600-118024800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:118017600-118025000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:118019200-118028800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr10:118020600-118030200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:118021800-118028800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:118022200-118026000	Strong transcription	Fetal Stomach	stomach
16	chr10:118022200-118027400	Strong transcription	Fetal Muscle Leg	muscle
17	chr10:118022200-118028200	Strong transcription	Liver	Liver
18	chr10:118022200-118028400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr10:118022400-118023000	Enhancers	Fetal Kidney	kidney
20	chr10:118022400-118023600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:118022600-118022800	Bivalent Enhancer	Fetal Brain Female	brain
22	chr10:118022600-118023400	Enhancers	Fetal Thymus	thymus
23	chr10:118023000-118023800	Strong transcription	HSMMtube	muscle
24	chr10:118023000-118028800	Weak transcription	Fetal Kidney	kidney
25	chr10:118023400-118030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr10:118023600-118023800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:118023800-118026600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:118023800-118030200	Weak transcription	HSMMtube	muscle
29	chr10:118024400-118028000	Strong transcription	HSMM	muscle

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