Variant report

Variant	esv3369526
Chromosome Location	chr3:146374303-146400737
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:52448335..52448943-chr3:146400166..146400666,2	Hela-S3	cervix:

Extended variants
information (count: 404 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530985411	chr3:146374356-146374357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77522794	chr3:146374357-146374358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377042220	chr3:146374358-146374359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549932178	chr3:146374366-146374367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs74558323	chr3:146374373-146374374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28729741	chr3:146374383-146374384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs550814090	chr3:146374422-146374423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186570619	chr3:146374429-146374430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536277012	chr3:146374483-146374484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548164013	chr3:146374505-146374506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535045357	chr3:146374567-146374568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142489695	chr3:146374569-146374570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114415140	chr3:146374584-146374585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558773681	chr3:146374626-146374627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576979656	chr3:146374643-146374644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571646821	chr3:146374719-146374720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371625065	chr3:146374869-146374870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538842286	chr3:146374924-146374925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373037354	chr3:146374934-146374935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556320565	chr3:146374935-146374936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77266842	chr3:146374974-146374975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190979055	chr3:146374999-146375000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368360358	chr3:146375009-146375010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6807202	chr3:146375066-146375067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560188670	chr3:146375078-146375079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143020847	chr3:146375332-146375333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536721722	chr3:146375404-146375405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540579836	chr3:146375414-146375415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565541142	chr3:146375423-146375424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532620883	chr3:146375497-146375498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183143131	chr3:146375501-146375502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562678646	chr3:146375543-146375544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530129165	chr3:146375569-146375570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs931900	chr3:146375584-146375585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs566759139	chr3:146375639-146375640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534160063	chr3:146375642-146375643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367545684	chr3:146375645-146375646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552209835	chr3:146375662-146375663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73159160	chr3:146375669-146375670	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11915439	chr3:146375713-146375714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs74479745	chr3:146375734-146375735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574632346	chr3:146375742-146375743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9852256	chr3:146375764-146375765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs375953472	chr3:146375829-146375830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111687488	chr3:146375858-146375859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532056115	chr3:146375878-146375879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs73867459	chr3:146375894-146375895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116584062	chr3:146375902-146375903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34414421	chr3:146375918-146375919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577453848	chr3:146375971-146375972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Bipolar disorder	18458673	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
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146372800-146374400	Enhancers	HepG2	liver
2	chr3:146373400-146375400	Weak transcription	Ovary	ovary
3	chr3:146373400-146376200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:146374200-146375600	Weak transcription	Dnd41	blood
5	chr3:146374400-146375600	Weak transcription	HepG2	liver
6	chr3:146375400-146376400	Enhancers	Ovary	ovary
7	chr3:146375600-146376400	Enhancers	Dnd41	blood
8	chr3:146375600-146376800	Enhancers	HepG2	liver
9	chr3:146376000-146376400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:146376000-146376800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:146376200-146376400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:146376200-146376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:146377000-146377400	Weak transcription	Dnd41	blood
14	chr3:146377600-146378600	Enhancers	Dnd41	blood
15	chr3:146382000-146382400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr3:146386800-146387400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr3:146395000-146397600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:146396600-146396800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:146397600-146399200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:146398400-146398600	Enhancers	Brain Germinal Matrix	brain
21	chr3:146398400-146399000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr3:146398400-146404200	Enhancers	Dnd41	blood
23	chr3:146398600-146399000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:146399200-146399600	Enhancers	Fetal Heart	heart
25	chr3:146399200-146401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:146399600-146400600	Weak transcription	Fetal Heart	heart

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