Variant report

Variant	esv3404191
Chromosome Location	chr3:78777462-78781660
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	chr3:78772880..78774546-chr3:78776083..78778103,2	MCF-7	breast:
2	chr3:78766178..78768497-chr3:78778226..78779744,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3773234	chr3:78777511-78777512	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs375616667	chr3:78777544-78777545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527356393	chr3:78777575-78777576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547194662	chr3:78777594-78777595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567811718	chr3:78777603-78777604	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs557805445	chr3:78777607-78777608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11338908	chr3:78777608-78777609	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs397687340	chr3:78777619-78777620	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs560649974	chr3:78777620-78777621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs62257471	chr3:78777622-78777623	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs371800822	chr3:78777668-78777669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs536846269	chr3:78777678-78777679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs550448745	chr3:78777689-78777690	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs183673354	chr3:78777697-78777698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs546203087	chr3:78777705-78777706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs143476488	chr3:78777707-78777708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539381236	chr3:78777789-78777790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116964399	chr3:78777795-78777796	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531937793	chr3:78777989-78777990	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs548456229	chr3:78778015-78778016	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs535090182	chr3:78778016-78778017	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375171011	chr3:78778057-78778058	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554781516	chr3:78778080-78778081	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs144650271	chr3:78778098-78778099	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs3773235	chr3:78778107-78778108	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542418370	chr3:78778117-78778118	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562392668	chr3:78778128-78778129	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs575924951	chr3:78778149-78778150	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs544999553	chr3:78778186-78778187	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs564866672	chr3:78778215-78778216	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs527301547	chr3:78778232-78778233	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs78753546	chr3:78778234-78778235	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs560821496	chr3:78778269-78778270	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs529861359	chr3:78778291-78778292	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs141690064	chr3:78778340-78778341	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs547015046	chr3:78778388-78778389	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs189226438	chr3:78778396-78778397	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532833374	chr3:78778403-78778404	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs376950866	chr3:78778407-78778408	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181894273	chr3:78778434-78778435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs559358995	chr3:78778436-78778437	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140445589	chr3:78778443-78778444	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368008238	chr3:78778449-78778450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs369115709	chr3:78778464-78778465	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185718512	chr3:78778507-78778508	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs372684798	chr3:78778523-78778524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539185710	chr3:78778541-78778542	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375313337	chr3:78778553-78778554	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555003114	chr3:78778555-78778556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs568214860	chr3:78778569-78778570	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
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
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
Acute myeloid leukemia	21251322	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
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	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
Urothelial carcinoma	21177765	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78733800-78778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:78753600-78777800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:78756800-78777800	Weak transcription	Osteobl	bone
4	chr3:78761200-78777600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:78761400-78777600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:78765800-78778000	Weak transcription	HMEC	breast
7	chr3:78766400-78778000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:78766400-78778000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:78766600-78778000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:78766600-78778000	Weak transcription	Ovary	ovary
11	chr3:78766600-78783000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:78772000-78778000	Weak transcription	NHEK	skin
13	chr3:78772000-78792200	Weak transcription	HepG2	liver
14	chr3:78773800-78777600	Weak transcription	Fetal Brain Male	brain
15	chr3:78774400-78777800	Weak transcription	Fetal Stomach	stomach
16	chr3:78774400-78778000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr3:78774400-78783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:78775000-78777800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:78775000-78778000	Weak transcription	Colon Smooth Muscle	Colon
20	chr3:78775000-78778000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:78775200-78777800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:78775200-78778000	Weak transcription	Fetal Kidney	kidney
23	chr3:78775800-78777800	Weak transcription	Brain Anterior Caudate	brain
24	chr3:78776000-78777800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:78776000-78778000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr3:78776000-78778000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:78776200-78777600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:78776200-78777600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:78776200-78777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:78776200-78777800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:78776200-78777800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:78777200-78777600	Enhancers	Brain Hippocampus Middle	brain
33	chr3:78777200-78778400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:78777200-78778800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:78777200-78779400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:78777200-78779400	Enhancers	Brain Germinal Matrix	brain
37	chr3:78777400-78777600	Enhancers	A549	lung
38	chr3:78777400-78777800	Enhancers	Adipose Nuclei	Adipose
39	chr3:78777400-78777800	Enhancers	Brain Cingulate Gyrus	brain
40	chr3:78777400-78777800	Enhancers	Brain Substantia Nigra	brain
41	chr3:78777400-78778000	Enhancers	Brain Angular Gyrus	brain
42	chr3:78777400-78778000	Weak transcription	HSMM	muscle
43	chr3:78777400-78778400	Enhancers	Fetal Heart	heart
44	chr3:78777400-78778600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr3:78777400-78778800	Enhancers	NHDF-Ad	bronchial
46	chr3:78777400-78779000	Enhancers	Fetal Lung	lung
47	chr3:78777400-78779400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr3:78777400-78780000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:78777400-78780400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:78777600-78777800	Enhancers	Brain Inferior Temporal Lobe	brain

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