Variant report

Variant	nsv520937
Chromosome Location	chr3:79025569-79039406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:78906307..78907421-chr3:79027156..79027943,5	MCF-7	breast:
2	chr3:79026994..79029043-chr3:79031085..79033915,2	MCF-7	breast:
3	chr3:79027234..79027932-chr3:79037054..79037782,2	MCF-7	breast:
4	chr3:78708302..78708990-chr3:79037023..79038050,4	MCF-7	breast:
5	chr3:78906402..78907028-chr3:79037285..79037796,2	MCF-7	breast:
6	chr3:78708157..78709093-chr3:79027024..79027695,3	MCF-7	breast:
7	chr3:79031147..79033864-chr3:79073232..79075055,2	MCF-7	breast:
8	chr3:79037904..79039407-chr3:79067709..79069605,2	MCF-7	breast:
9	chr3:79026994..79029043-chr3:79031085..79033915,2	MCF-7	breast:
10	chr3:79033431..79035396-chr3:79066510..79068950,2	MCF-7	breast:
11	chr3:78706343..78708687-chr3:79024779..79027731,2	MCF-7	breast:
12	chr3:79038219..79041033-chr3:79044727..79046943,2	MCF-7	breast:
13	chr3:78907905..78908528-chr3:79037177..79037914,2	MCF-7	breast:
14	chr3:79027234..79027932-chr3:79037054..79037782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169855	chromatin interactions

Extended variants
information (count: 452 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4680919	chr3:79025569-79025570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80000050	chr3:79025572-79025573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537954718	chr3:79025587-79025588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536371671	chr3:79025730-79025731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555493456	chr3:79025748-79025749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs151185899	chr3:79025768-79025769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544093733	chr3:79025772-79025773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564088134	chr3:79025789-79025790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140303311	chr3:79025877-79025878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74764524	chr3:79025963-79025964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559909174	chr3:79025980-79025981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528936380	chr3:79026009-79026010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377068620	chr3:79026010-79026011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200425695	chr3:79026021-79026022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548814281	chr3:79026070-79026071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563087579	chr3:79026092-79026093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111841077	chr3:79026110-79026111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552078827	chr3:79026143-79026144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573031571	chr3:79026221-79026222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572002312	chr3:79026250-79026251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184535147	chr3:79026279-79026280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190586258	chr3:79026308-79026309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181937627	chr3:79026345-79026346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536713795	chr3:79026361-79026362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141533740	chr3:79026393-79026394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569031897	chr3:79026425-79026426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186442005	chr3:79026428-79026429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537678731	chr3:79026430-79026431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557616388	chr3:79026542-79026543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577480284	chr3:79026587-79026588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540158342	chr3:79026594-79026595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs188952746	chr3:79026645-79026646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111336280	chr3:79026651-79026652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181657295	chr3:79026712-79026713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574480475	chr3:79026721-79026722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144619040	chr3:79026740-79026741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562470046	chr3:79026750-79026751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114248942	chr3:79026762-79026763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545581025	chr3:79026797-79026798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565499459	chr3:79026917-79026918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543775858	chr3:79026973-79026974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547787042	chr3:79027023-79027024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191309264	chr3:79027076-79027077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540268017	chr3:79027089-79027090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530088046	chr3:79027099-79027100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370981234	chr3:79027152-79027153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550227905	chr3:79027165-79027166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569850874	chr3:79027261-79027262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538764430	chr3:79027269-79027270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554024671	chr3:79027320-79027321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79011400-79027400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:79018000-79027600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:79018200-79027600	Weak transcription	Brain Angular Gyrus	brain
4	chr3:79018600-79027600	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:79018600-79027600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:79019600-79027400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:79020600-79027800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:79022200-79026200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:79022200-79027600	Weak transcription	Psoas Muscle	Psoas
10	chr3:79022400-79041600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:79023400-79026400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:79023400-79031800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:79023600-79025600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:79023600-79026200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr3:79023800-79026000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:79023800-79026200	Weak transcription	HUVEC	blood vessel
17	chr3:79023800-79027000	Enhancers	HSMM	muscle
18	chr3:79023800-79027800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:79023800-79028200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:79023800-79037400	Weak transcription	A549	lung
21	chr3:79024000-79025600	Weak transcription	NH-A	brain
22	chr3:79024000-79025600	Weak transcription	NHEK	skin
23	chr3:79024000-79026000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:79024000-79026000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:79024000-79026000	Weak transcription	NHDF-Ad	bronchial
26	chr3:79024400-79025800	Enhancers	HepG2	liver
27	chr3:79024400-79026000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:79024400-79026400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr3:79024400-79028800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:79024800-79025600	Enhancers	H1 Cell Line	embryonic stem cell
31	chr3:79024800-79025800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:79024800-79026200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:79024800-79034600	Weak transcription	Fetal Lung	lung
34	chr3:79025200-79025800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:79025200-79025800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:79025400-79025600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:79025400-79025800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:79025400-79025800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:79025400-79027400	Enhancers	Osteobl	bone
40	chr3:79025600-79025800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr3:79025600-79025800	Enhancers	Fetal Brain Female	brain
42	chr3:79025600-79027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:79025600-79028200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:79025600-79028400	Enhancers	NH-A	brain
45	chr3:79025600-79029600	Enhancers	NHEK	skin
46	chr3:79025800-79027200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:79025800-79027400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:79025800-79027400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:79025800-79027400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:79025800-79027400	Weak transcription	HepG2	liver

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