Variant report

Variant	esv2613871
Chromosome Location	chr3:492655-494057
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540343246	chr3:492688-492689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs116408550	chr3:492709-492710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139951851	chr3:492710-492711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544492899	chr3:492728-492729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534905589	chr3:492740-492741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565821620	chr3:492760-492761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79653179	chr3:492761-492762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114254269	chr3:492779-492780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150613082	chr3:492793-492794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551351103	chr3:492795-492796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139723023	chr3:492808-492809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs77421967	chr3:492814-492815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2570018	chr3:492819-492820	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2728001	chr3:492828-492829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535708685	chr3:492892-492893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376525946	chr3:492899-492900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569403574	chr3:492946-492947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370900147	chr3:492949-492950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567407855	chr3:492966-492967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557695966	chr3:492977-492978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538363468	chr3:493043-493044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375713941	chr3:493064-493065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185051021	chr3:493065-493066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189758679	chr3:493085-493086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534008466	chr3:493092-493093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555487701	chr3:493152-493153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181045308	chr3:493183-493184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377681055	chr3:493207-493208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368792434	chr3:493217-493218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544038748	chr3:493268-493269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562708710	chr3:493270-493271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577833692	chr3:493274-493275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186643953	chr3:493281-493282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115434212	chr3:493330-493331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527327996	chr3:493357-493358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537654664	chr3:493402-493403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74684718	chr3:493405-493406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565293958	chr3:493434-493435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191433008	chr3:493452-493453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556415145	chr3:493460-493461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577907258	chr3:493465-493466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2728002	chr3:493488-493489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs114650924	chr3:493494-493495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115968432	chr3:493495-493496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117588847	chr3:493503-493504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555352007	chr3:493505-493506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183590902	chr3:493598-493599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150055356	chr3:493616-493617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111656897	chr3:493684-493685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76515959	chr3:493697-493698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Cancer	20164920	CNVD
Lung cancer	16618734	CNVD
Autism	18349135	CNVD
Breast cancer	20409316	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Intellectual disability	22045946	CNVD
Squamous cell cancer	19607727	CNVD
Gastric adenocarcinoma	19115996	CNVD
sporadic birth defects	19047251	CNVD
Mental retardation	17124404	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Sudden cardiac death	19188705	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20967226	CNVD
Autism	22543975	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Tetralogy of Fallot	22912587	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	20685689	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:492000-492800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr3:492000-504600	Weak transcription	Aorta	Aorta
3	chr3:492200-493200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:492200-493200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr3:492200-493400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:492400-493200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:492600-493000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:492800-496800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr3:493000-500400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:493200-494000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:493200-496400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:493200-500400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:493400-493800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:493800-494000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:494000-494200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:494000-494200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:494000-496600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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