Variant report

Variant	nsv1053675
Chromosome Location	chr10:18703895-18722912
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18706370..18708448-chr10:18711471..18713680,2	MCF-7	breast:
2	chr10:18702337..18704574-chr10:18724311..18726686,2	MCF-7	breast:
3	chr10:18706370..18708448-chr10:18711471..18713680,2	MCF-7	breast:

Extended variants
information (count: 856 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs997264	chr10:18703895-18703896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117180055	chr10:18703920-18703921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535253329	chr10:18703921-18703922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547275435	chr10:18703958-18703959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76206807	chr10:18703998-18703999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571973751	chr10:18704036-18704037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538636693	chr10:18704041-18704042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs12252497	chr10:18704046-18704047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372374954	chr10:18704047-18704048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556958581	chr10:18704050-18704051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575236369	chr10:18704064-18704065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143928266	chr10:18704109-18704110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10828666	chr10:18704124-18704125	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs998229	chr10:18704136-18704137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536103061	chr10:18704139-18704140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs540045374	chr10:18704219-18704220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12252592	chr10:18704227-18704228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12049663	chr10:18704240-18704241	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11014143	chr10:18704249-18704250	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545061823	chr10:18704266-18704267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151321746	chr10:18704272-18704273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186775875	chr10:18704335-18704336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543079411	chr10:18704380-18704381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113439753	chr10:18704382-18704383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11337812	chr10:18704397-18704398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77997026	chr10:18704408-18704409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560392057	chr10:18704420-18704421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16917315	chr10:18704458-18704459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547263082	chr10:18704470-18704471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192520490	chr10:18704480-18704481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532876159	chr10:18704503-18704504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550287654	chr10:18704507-18704508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569008536	chr10:18704524-18704525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16917320	chr10:18704550-18704551	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs139379356	chr10:18704556-18704557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554527602	chr10:18704561-18704562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554204713	chr10:18704562-18704563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566230936	chr10:18704573-18704574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6482397	chr10:18704632-18704633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs558367312	chr10:18704640-18704641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572784024	chr10:18704667-18704668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576710134	chr10:18704708-18704709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544521795	chr10:18704744-18704745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556205110	chr10:18704750-18704751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11014144	chr10:18704776-18704777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs555419162	chr10:18704819-18704820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368064487	chr10:18704840-18704841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149403096	chr10:18704862-18704863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77525349	chr10:18704863-18704864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372551550	chr10:18704871-18704872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18690000-18705600	Weak transcription	Aorta	Aorta
2	chr10:18690200-18713000	Weak transcription	Ovary	ovary
3	chr10:18692000-18712600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:18692600-18707600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:18701000-18705800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr10:18702800-18707600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr10:18703000-18704200	Enhancers	Rectal Smooth Muscle	rectum
8	chr10:18703000-18705400	Weak transcription	Right Ventricle	heart
9	chr10:18703200-18711200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:18703600-18707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:18703600-18707000	Weak transcription	Left Ventricle	heart
12	chr10:18703600-18732000	Weak transcription	Pancreas	Pancrea
13	chr10:18703800-18704800	Enhancers	Fetal Heart	heart
14	chr10:18704800-18707200	Weak transcription	Fetal Heart	heart
15	chr10:18705600-18705800	Enhancers	Aorta	Aorta
16	chr10:18707000-18707200	Enhancers	Left Ventricle	heart
17	chr10:18707000-18707400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:18707200-18707600	Weak transcription	Left Ventricle	heart
19	chr10:18707200-18708200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr10:18707200-18708800	Enhancers	Fetal Heart	heart
21	chr10:18707400-18707600	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr10:18707400-18707800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr10:18707400-18707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:18707400-18708000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr10:18707400-18708200	Enhancers	Primary B cells from peripheral blood	blood
26	chr10:18707400-18708600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr10:18707600-18707800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr10:18707600-18707800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:18707600-18707800	Enhancers	Left Ventricle	heart
30	chr10:18707600-18708000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr10:18707600-18708200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:18707600-18708400	Enhancers	Brain Angular Gyrus	brain
33	chr10:18707800-18708200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:18707800-18713000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr10:18707800-18713000	Weak transcription	Left Ventricle	heart
36	chr10:18708000-18708600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr10:18708000-18713000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr10:18708000-18713200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:18708200-18710400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:18708200-18712200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:18708800-18710800	Weak transcription	Fetal Heart	heart
42	chr10:18710400-18711000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr10:18710400-18711600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr10:18710800-18715200	Enhancers	Fetal Heart	heart
45	chr10:18711200-18711400	Enhancers	Stomach Smooth Muscle	stomach
46	chr10:18711200-18713000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr10:18711400-18712200	Weak transcription	Right Ventricle	heart
48	chr10:18711400-18712200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:18711400-18713400	Enhancers	Placenta	Placenta
50	chr10:18712200-18712600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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