Variant report

Variant	esv16257
Chromosome Location	chr3:158051035-158052187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564643565	chr3:158051062-158051063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189722386	chr3:158051065-158051066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540586602	chr3:158051080-158051081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371579758	chr3:158051112-158051113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73013322	chr3:158051132-158051133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529574873	chr3:158051182-158051183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146464257	chr3:158051193-158051194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569328592	chr3:158051197-158051198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191699210	chr3:158051216-158051217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140921534	chr3:158051237-158051238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183960268	chr3:158051242-158051243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78603332	chr3:158051283-158051284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188248012	chr3:158051322-158051323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566945784	chr3:158051340-158051341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181950234	chr3:158051348-158051349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556457821	chr3:158051349-158051350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs187080585	chr3:158051359-158051360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538872907	chr3:158051389-158051390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190303401	chr3:158051405-158051406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573330865	chr3:158051421-158051422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78469584	chr3:158051434-158051435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562031693	chr3:158051451-158051452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574109341	chr3:158051458-158051459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544570282	chr3:158051479-158051480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563244171	chr3:158051521-158051522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533462981	chr3:158051527-158051528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554095663	chr3:158051584-158051585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112232643	chr3:158051652-158051653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151143370	chr3:158051684-158051685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116719681	chr3:158051705-158051706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs73170303	chr3:158051714-158051715	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs181862574	chr3:158051764-158051765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77805306	chr3:158051786-158051787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549803273	chr3:158051878-158051879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571472144	chr3:158051879-158051880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113161571	chr3:158051886-158051887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538566667	chr3:158051948-158051949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545528864	chr3:158051991-158051992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553894498	chr3:158052064-158052065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572289023	chr3:158052093-158052094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534261804	chr3:158052102-158052103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:158047000-158055400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:158047800-158064800	Weak transcription	Ovary	ovary
4	chr3:158047800-158077800	Weak transcription	Gastric	stomach
5	chr3:158048000-158054000	Weak transcription	Left Ventricle	heart
6	chr3:158048000-158056400	Weak transcription	Esophagus	oesophagus
7	chr3:158048000-158059800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:158048200-158053800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:158048200-158079400	Weak transcription	Right Ventricle	heart
10	chr3:158049000-158052400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:158049000-158052600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:158050000-158054200	Weak transcription	Dnd41	blood
13	chr3:158051200-158052800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:158051600-158052000	Enhancers	Primary neutrophils fromperipheralblood	blood

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