Variant report

Variant	esv3323408
Chromosome Location	chr3:61194212-61199410
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 388 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548360753	chr3:61194232-61194233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369127456	chr3:61194240-61194241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372582718	chr3:61194254-61194255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556806040	chr3:61194269-61194270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547146637	chr3:61194298-61194299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59910027	chr3:61194299-61194300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570332497	chr3:61194302-61194303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180722388	chr3:61194324-61194325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555894555	chr3:61194341-61194342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575029381	chr3:61194354-61194355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542138779	chr3:61194388-61194389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187650904	chr3:61194389-61194390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9840160	chr3:61194396-61194397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191955983	chr3:61194407-61194408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371059213	chr3:61194429-61194430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145470364	chr3:61194447-61194448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183136407	chr3:61194453-61194454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561944450	chr3:61194468-61194469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148843405	chr3:61194473-61194474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs548520397	chr3:61194476-61194477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371292742	chr3:61194478-61194479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527511821	chr3:61194483-61194484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551985041	chr3:61194495-61194496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199852157	chr3:61194496-61194497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201209322	chr3:61194510-61194511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570486788	chr3:61194533-61194534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546159270	chr3:61194537-61194538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537546904	chr3:61194553-61194554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374232809	chr3:61194557-61194558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567731020	chr3:61194569-61194570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535729707	chr3:61194570-61194571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186153426	chr3:61194589-61194590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572300493	chr3:61194607-61194608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564471929	chr3:61194610-61194611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540067939	chr3:61194621-61194622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4688350	chr3:61194629-61194630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4688351	chr3:61194630-61194631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543578017	chr3:61194644-61194645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562080392	chr3:61194650-61194651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574117625	chr3:61194665-61194666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542124032	chr3:61194679-61194680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11921624	chr3:61194683-61194684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527591681	chr3:61194705-61194706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552301536	chr3:61194706-61194707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76880375	chr3:61194711-61194712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367569552	chr3:61194775-61194776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4688352	chr3:61194778-61194779	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs549641470	chr3:61194779-61194780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4688353	chr3:61194781-61194782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs535123499	chr3:61194794-61194795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	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
Oral squamous cell carcinoma	17134496	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
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Cancer	20164920	CNVD
Autism	22102821	CNVD
Prostate cancer	19363497	CNVD
Malaria	21533027	CNVD
Colorectal cancer	21518781	CNVD
Esophageal cancer	21518781	CNVD
Cancer	20164919	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61172400-61203000	Weak transcription	Pancreas	Pancrea
2	chr3:61186000-61195600	Weak transcription	Fetal Intestine Small	intestine
3	chr3:61195600-61196800	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr3:61195800-61196600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
5	chr3:61196200-61197600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:61197600-61203000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links