Variant report

Variant	esv3380589
Chromosome Location	chr3:85037562-85040860
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	chr3:85038561..85040690-chr3:85042508..85045093,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546518284	chr3:85037581-85037582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs571095166	chr3:85037612-85037613	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs536939480	chr3:85037664-85037665	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs368050932	chr3:85037759-85037760	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs56152547	chr3:85037768-85037769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs375495786	chr3:85037792-85037793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73137679	chr3:85037810-85037811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189293086	chr3:85037840-85037841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534751927	chr3:85037862-85037863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180962126	chr3:85037875-85037876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116275905	chr3:85037880-85037881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552667274	chr3:85037903-85037904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115562594	chr3:85037979-85037980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138805939	chr3:85037991-85037992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140543087	chr3:85037995-85037996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143818556	chr3:85038005-85038006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545142775	chr3:85038020-85038021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199825046	chr3:85038029-85038030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148177043	chr3:85038033-85038034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116758494	chr3:85038036-85038037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557185275	chr3:85038061-85038062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542304999	chr3:85038131-85038132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113910570	chr3:85038145-85038146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528410797	chr3:85038153-85038154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117201962	chr3:85038167-85038168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541428760	chr3:85038188-85038189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571123286	chr3:85038201-85038202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184321489	chr3:85038245-85038246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12494141	chr3:85038290-85038291	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558575278	chr3:85038303-85038304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17734218	chr3:85038312-85038313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181517792	chr3:85038376-85038377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185459504	chr3:85038440-85038441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554698010	chr3:85038457-85038458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190661552	chr3:85038529-85038530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534245694	chr3:85038542-85038543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9647393	chr3:85038545-85038546	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577524655	chr3:85038570-85038571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181394033	chr3:85038611-85038612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186268661	chr3:85038631-85038632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372868170	chr3:85038661-85038662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545235942	chr3:85038778-85038779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543734347	chr3:85038932-85038933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575284412	chr3:85038968-85038969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564922832	chr3:85039026-85039027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192168809	chr3:85039088-85039089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560751418	chr3:85039125-85039126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572156557	chr3:85039131-85039132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528063141	chr3:85039146-85039147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182629220	chr3:85039220-85039221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	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
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
craniofacial dysmorphism	21918468	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Autism	22102821	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:85032000-85037800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:85034200-85040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:85034200-85042600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:85034200-85048200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:85035200-85041000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:85035600-85052800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:85036200-85037600	Enhancers	Brain Anterior Caudate	brain
8	chr3:85036200-85037800	Enhancers	Brain Angular Gyrus	brain
9	chr3:85036200-85037800	Enhancers	Fetal Lung	lung
10	chr3:85036200-85038400	Enhancers	Brain Cingulate Gyrus	brain
11	chr3:85036600-85037800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:85036600-85038400	Enhancers	Brain Hippocampus Middle	brain
13	chr3:85036800-85037800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:85036800-85038400	Enhancers	Fetal Intestine Small	intestine
15	chr3:85036800-85040400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:85037000-85037600	Enhancers	Fetal Intestine Large	intestine
17	chr3:85037400-85037600	Enhancers	Adipose Nuclei	Adipose
18	chr3:85037400-85037600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr3:85037400-85037800	Flanking Active TSS	Brain Substantia Nigra	brain
20	chr3:85037400-85042400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:85037600-85037800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr3:85037600-85038000	Weak transcription	Fetal Intestine Large	intestine
23	chr3:85037600-85039000	Enhancers	Liver	Liver
24	chr3:85037600-85040200	Weak transcription	Adipose Nuclei	Adipose
25	chr3:85037600-85040400	Weak transcription	Brain Anterior Caudate	brain
26	chr3:85037800-85038400	Enhancers	Brain Substantia Nigra	brain
27	chr3:85037800-85040000	Weak transcription	Brain Angular Gyrus	brain
28	chr3:85037800-85040400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:85037800-85040600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:85037800-85041000	Weak transcription	Fetal Lung	lung
31	chr3:85037800-85042400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:85038000-85038400	Enhancers	Fetal Intestine Large	intestine
33	chr3:85038400-85040200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:85038400-85040200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:85038400-85040200	Weak transcription	Brain Substantia Nigra	brain
36	chr3:85040000-85043400	Enhancers	Brain Angular Gyrus	brain
37	chr3:85040200-85041200	Enhancers	Adipose Nuclei	Adipose
38	chr3:85040200-85041200	Enhancers	Brain Cingulate Gyrus	brain
39	chr3:85040200-85041400	Enhancers	Brain Hippocampus Middle	brain
40	chr3:85040200-85041400	Enhancers	Brain Substantia Nigra	brain
41	chr3:85040400-85040600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr3:85040400-85041200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:85040400-85041400	Enhancers	Brain Anterior Caudate	brain
44	chr3:85040400-85041400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr3:85040600-85041000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:85040600-85043000	Enhancers	HUES48 Cell Line	embryonic stem cell

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