Variant report

Variant	esv3396193
Chromosome Location	chr10:18329371-18331919
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 180 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77612204	chr10:18329413-18329414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545403389	chr10:18329475-18329476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557431689	chr10:18329532-18329533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189685946	chr10:18329556-18329557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs543788145	chr10:18329575-18329576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374016632	chr10:18329590-18329591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529502790	chr10:18329597-18329598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547704311	chr10:18329647-18329648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375059108	chr10:18329677-18329678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182265102	chr10:18329678-18329679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533425700	chr10:18329684-18329685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551814795	chr10:18329694-18329695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372783196	chr10:18329698-18329699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386370830	chr10:18329699-18329700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34842202	chr10:18329704-18329705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58250942	chr10:18329715-18329716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569922898	chr10:18329742-18329743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530915990	chr10:18329744-18329745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549844109	chr10:18329745-18329746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12358478	chr10:18329756-18329757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs7075087	chr10:18329771-18329772	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs188963386	chr10:18329790-18329791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551159789	chr10:18329807-18329808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150604423	chr10:18329816-18329817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2488132	chr10:18329818-18329819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs193233469	chr10:18329827-18329828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12358488	chr10:18329835-18329836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543396323	chr10:18329868-18329869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537130130	chr10:18329879-18329880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs557589247	chr10:18329885-18329886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115184540	chr10:18329888-18329889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs116736136	chr10:18329893-18329894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183581271	chr10:18329895-18329896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2497790	chr10:18329921-18329922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs139622732	chr10:18329949-18329950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563790070	chr10:18329977-18329978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78596308	chr10:18329988-18329989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7075486	chr10:18330014-18330015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142861555	chr10:18330055-18330056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147408416	chr10:18330057-18330058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139645423	chr10:18330091-18330092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374536446	chr10:18330114-18330115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547208598	chr10:18330131-18330132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145158266	chr10:18330180-18330181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577510196	chr10:18330251-18330252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539230702	chr10:18330282-18330283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12265986	chr10:18330290-18330291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569728625	chr10:18330351-18330352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536644858	chr10:18330378-18330379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555303766	chr10:18330386-18330387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Colorectal cancer	19287155	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18325600-18333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:18329800-18330000	Enhancers	Aorta	Aorta
3	chr10:18330000-18333400	Weak transcription	Aorta	Aorta
4	chr10:18331000-18331400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:18331000-18331400	Enhancers	Ovary	ovary
6	chr10:18331000-18331600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:18331200-18331400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:18331200-18331600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr10:18331200-18332800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:18331200-18335200	Enhancers	NH-A	brain
11	chr10:18331400-18332200	Weak transcription	Ovary	ovary
12	chr10:18331400-18332800	Enhancers	Hela-S3	cervix
13	chr10:18331400-18335200	Enhancers	Osteobl	bone
14	chr10:18331600-18332400	Enhancers	NHLF	lung
15	chr10:18331600-18334200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:18331600-18348800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:18331800-18333000	Enhancers	Muscle Satellite Cultured Cells	--

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