Variant report

Variant	esv33250
Chromosome Location	chr3:179688399-179688785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374230049	chr3:179688414-179688415	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs1524509	chr3:179688418-179688419	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs532297060	chr3:179688445-179688446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs555363368	chr3:179688455-179688456	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs34661702	chr3:179688461-179688462	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs185634982	chr3:179688467-179688468	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs558803749	chr3:179688504-179688505	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs569051319	chr3:179688507-179688508	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs147649895	chr3:179688516-179688517	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs535987396	chr3:179688522-179688523	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs370625662	chr3:179688591-179688592	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs2031043	chr3:179688604-179688605	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs377683440	chr3:179688621-179688622	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs568174056	chr3:179688632-179688633	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs533737885	chr3:179688633-179688634	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs73883445	chr3:179688634-179688635	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs140584020	chr3:179688660-179688661	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs2031044	chr3:179688671-179688672	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544606437	chr3:179688705-179688706	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs558847878	chr3:179688725-179688726	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs575404984	chr3:179688755-179688756	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs558497598	chr3:179688778-179688779	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179686000-179691400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:179686400-179689400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr3:179686400-179691800	Weak transcription	Osteobl	bone
4	chr3:179686600-179688800	Enhancers	Fetal Brain Male	brain
5	chr3:179686800-179692000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:179686800-179692200	Active TSS	Brain Substantia Nigra	brain
7	chr3:179687000-179689400	Active TSS	Brain Cingulate Gyrus	brain
8	chr3:179687400-179692200	Active TSS	Brain Anterior Caudate	brain
9	chr3:179687600-179688400	Enhancers	A549	lung
10	chr3:179687800-179691000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:179688000-179688400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr3:179688000-179688800	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr3:179688000-179688800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:179688000-179688800	Enhancers	Fetal Thymus	thymus
15	chr3:179688000-179688800	Enhancers	Thymus	Thymus
16	chr3:179688200-179688400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:179688200-179688600	Active TSS	GM12878-XiMat	blood
18	chr3:179688200-179689000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:179688400-179690600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:179688400-179690800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:179688400-179692200	Active TSS	Brain Hippocampus Middle	brain
22	chr3:179688600-179690800	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links