Variant report

Variant	esv3520772
Chromosome Location	chr3:98943087-98950510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558789389	chr3:98945403-98945404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72932562	chr3:98945404-98945405	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185607501	chr3:98945408-98945409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534554434	chr3:98945415-98945416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371631243	chr3:98945430-98945431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114695126	chr3:98945444-98945445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540061195	chr3:98945450-98945451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200495295	chr3:98945467-98945468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371093963	chr3:98945474-98945475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74489087	chr3:98945477-98945478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371665041	chr3:98945486-98945487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28738836	chr3:98945571-98945572	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs115355602	chr3:98945578-98945579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547056018	chr3:98945582-98945583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555784121	chr3:98945618-98945619	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143729756	chr3:98945700-98945701	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540991638	chr3:98945710-98945711	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146808999	chr3:98945724-98945725	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372301964	chr3:98945781-98945782	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543295170	chr3:98945820-98945821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535175201	chr3:98945875-98945876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115155937	chr3:98945890-98945891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114236381	chr3:98945895-98945896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372620872	chr3:98945967-98945968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559361556	chr3:98945984-98945985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528111682	chr3:98946067-98946068	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs13083919	chr3:98946071-98946072	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs115895796	chr3:98946082-98946083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546948303	chr3:98946143-98946144	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540172237	chr3:98946165-98946166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs568322878	chr3:98946189-98946190	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs190056550	chr3:98946225-98946226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536004620	chr3:98946252-98946253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557044716	chr3:98946260-98946261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34364621	chr3:98946270-98946271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201087828	chr3:98946271-98946272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs55637179	chr3:98946340-98946341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs557763407	chr3:98946377-98946378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183620634	chr3:98946387-98946388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543396859	chr3:98946395-98946396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557176450	chr3:98946426-98946427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186973563	chr3:98946468-98946469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373516745	chr3:98946519-98946520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143651206	chr3:98946523-98946524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191412075	chr3:98946682-98946683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528224260	chr3:98946686-98946687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148062784	chr3:98946698-98946699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564915344	chr3:98946700-98946701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530517930	chr3:98946717-98946718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184150307	chr3:98946778-98946779	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98945400-98945600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:98945400-98946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr3:98945600-98945800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr3:98945600-98946200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr3:98945600-98946800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr3:98945600-98946800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:98945800-98946000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:98945800-98946400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:98945800-98946600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr3:98945800-98946800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:98946000-98946200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr3:98946000-98946600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr3:98946000-98946800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr3:98946200-98946800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:98946800-98947800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:98947800-98948000	Enhancers	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links