Variant report

Variant	esv3321902
Chromosome Location	chr10:18486496-18487844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148662819	chr10:18486588-18486589	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559775229	chr10:18486589-18486590	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577983818	chr10:18486608-18486609	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs1277726	chr10:18486612-18486613	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564419733	chr10:18486702-18486703	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531639943	chr10:18486707-18486708	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200994627	chr10:18486711-18486712	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202198654	chr10:18486712-18486713	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs200471416	chr10:18486714-18486715	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs550059067	chr10:18486726-18486727	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376621742	chr10:18486727-18486728	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs561748374	chr10:18486751-18486752	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111381245	chr10:18486834-18486835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1277725	chr10:18486857-18486858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183093321	chr10:18486876-18486877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376712170	chr10:18486894-18486895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565757939	chr10:18486897-18486898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs58983166	chr10:18486921-18486922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187638651	chr10:18486941-18486942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569270421	chr10:18487009-18487010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1300003	chr10:18487010-18487011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376434517	chr10:18487040-18487041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192080074	chr10:18487058-18487059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182849934	chr10:18487061-18487062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138907402	chr10:18487064-18487065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111912069	chr10:18487065-18487066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567259204	chr10:18487079-18487080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544340850	chr10:18487083-18487084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11818164	chr10:18487085-18487086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28636078	chr10:18487093-18487094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28487901	chr10:18487096-18487097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375892437	chr10:18487109-18487110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371043856	chr10:18487155-18487156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187954857	chr10:18487263-18487264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73595510	chr10:18487289-18487290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs578046145	chr10:18487340-18487341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150747091	chr10:18487343-18487344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563682397	chr10:18487359-18487360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575675439	chr10:18487384-18487385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543768807	chr10:18487411-18487412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562001255	chr10:18487500-18487501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192723212	chr10:18487523-18487524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547567897	chr10:18487578-18487579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139079279	chr10:18487579-18487580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117244363	chr10:18487581-18487582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551031098	chr10:18487615-18487616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145059482	chr10:18487639-18487640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533005755	chr10:18487642-18487643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536625981	chr10:18487649-18487650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549442932	chr10:18487650-18487651	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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18469400-18491200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr10:18475200-18491600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:18481800-18490200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:18483600-18487800	Enhancers	Rectal Smooth Muscle	rectum
5	chr10:18484000-18486600	Enhancers	Fetal Heart	heart
6	chr10:18484800-18486600	Weak transcription	Right Atrium	heart
7	chr10:18484800-18486800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr10:18484800-18486800	Enhancers	Colon Smooth Muscle	Colon
9	chr10:18484800-18487600	Enhancers	Stomach Smooth Muscle	stomach
10	chr10:18485000-18503800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:18485600-18486600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr10:18485600-18486600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr10:18485600-18486600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr10:18485800-18486600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:18485800-18486600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr10:18485800-18486800	Enhancers	Fetal Stomach	stomach
17	chr10:18485800-18486800	Enhancers	Ovary	ovary
18	chr10:18486000-18486600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr10:18486000-18486600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:18486000-18486600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:18486000-18486600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr10:18486000-18486600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr10:18486000-18486600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:18486000-18486600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:18486000-18486600	Enhancers	Aorta	Aorta
26	chr10:18486000-18486600	Enhancers	Fetal Intestine Large	intestine
27	chr10:18486000-18486600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr10:18486000-18486600	Enhancers	Right Ventricle	heart
29	chr10:18486000-18486800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr10:18486000-18486800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:18486000-18486800	Enhancers	Fetal Intestine Small	intestine
32	chr10:18486000-18486800	Enhancers	Left Ventricle	heart
33	chr10:18486200-18486600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr10:18486200-18486800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr10:18486200-18487000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr10:18486600-18486800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr10:18486600-18486800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:18486600-18487200	Weak transcription	Right Ventricle	heart
39	chr10:18486600-18487400	Enhancers	Right Atrium	heart
40	chr10:18486600-18491000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr10:18486600-18491000	Weak transcription	Fetal Heart	heart
42	chr10:18486600-18491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:18486600-18491600	Weak transcription	Aorta	Aorta
44	chr10:18486600-18491800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr10:18486600-18492200	Weak transcription	Fetal Intestine Large	intestine
46	chr10:18486800-18491200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:18486800-18491200	Weak transcription	Colon Smooth Muscle	Colon
48	chr10:18486800-18492000	Weak transcription	Left Ventricle	heart
49	chr10:18486800-18502000	Weak transcription	Fetal Stomach	stomach
50	chr10:18487000-18487400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links