Variant report

Variant	esv3693048
Chromosome Location	chr10:18755609-18760635
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	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:
2	chr10:18756743..18758287-chr10:18759029..18761253,2	MCF-7	breast:

Extended variants
information (count: 234 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:234 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12219393	chr10:18755609-18755610	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188501534	chr10:18755633-18755634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4748470	chr10:18755663-18755664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1998822	chr10:18755664-18755665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs572522498	chr10:18755688-18755689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557396029	chr10:18755689-18755690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192738129	chr10:18755720-18755721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184786250	chr10:18755771-18755772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114613438	chr10:18755803-18755804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7918142	chr10:18755840-18755841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541345373	chr10:18755855-18755856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59643842	chr10:18755858-18755859	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs527650680	chr10:18755878-18755879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376408912	chr10:18755921-18755922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189489655	chr10:18755928-18755929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7070582	chr10:18755942-18755943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550385372	chr10:18755952-18755953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568713948	chr10:18755953-18755954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529542098	chr10:18755954-18755955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548105793	chr10:18755957-18755958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566261081	chr10:18755980-18755981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576208162	chr10:18755987-18755988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11596252	chr10:18755989-18755990	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557336207	chr10:18755996-18755997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373338124	chr10:18755997-18755998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536790783	chr10:18756017-18756018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555139286	chr10:18756018-18756019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540152240	chr10:18756025-18756026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573813316	chr10:18756036-18756037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142040959	chr10:18756042-18756043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565215935	chr10:18756048-18756049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532126579	chr10:18756058-18756059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553202641	chr10:18756090-18756091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577862024	chr10:18756108-18756109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546176352	chr10:18756113-18756114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564511654	chr10:18756139-18756140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180974628	chr10:18756140-18756141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561438454	chr10:18756151-18756152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543964995	chr10:18756214-18756215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541051450	chr10:18756222-18756223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371323133	chr10:18756261-18756262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151144178	chr10:18756285-18756286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547697047	chr10:18756300-18756301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564709183	chr10:18756309-18756310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535471575	chr10:18756310-18756311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559951197	chr10:18756324-18756325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140260264	chr10:18756339-18756340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550953502	chr10:18756352-18756353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183599961	chr10:18756431-18756432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536733744	chr10:18756438-18756439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18732400-18801600	Weak transcription	Pancreas	Pancrea
2	chr10:18739000-18761000	Weak transcription	Colon Smooth Muscle	Colon
3	chr10:18741600-18763200	Weak transcription	Fetal Stomach	stomach
4	chr10:18744400-18761800	Weak transcription	Ovary	ovary
5	chr10:18745400-18763200	Weak transcription	Right Ventricle	heart
6	chr10:18745800-18761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:18749000-18759000	Enhancers	Fetal Heart	heart
8	chr10:18751000-18760800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr10:18751000-18761400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:18753000-18775600	Weak transcription	Right Atrium	heart
11	chr10:18753600-18761800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:18754600-18756000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:18755400-18755800	Weak transcription	Left Ventricle	heart
14	chr10:18755800-18756000	Enhancers	Left Ventricle	heart
15	chr10:18756000-18759600	Weak transcription	Left Ventricle	heart
16	chr10:18756400-18756600	Enhancers	Brain Hippocampus Middle	brain
17	chr10:18758200-18758800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:18759000-18759400	Weak transcription	Fetal Heart	heart
19	chr10:18759400-18761400	Enhancers	Fetal Heart	heart
20	chr10:18759600-18760400	Enhancers	Left Ventricle	heart
21	chr10:18759800-18760000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr10:18760000-18765000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr10:18760400-18761000	Weak transcription	Left Ventricle	heart
24	chr10:18760600-18760800	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:18760600-18761600	Enhancers	Dnd41	blood

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