Variant report

Variant	nsv1014633
Chromosome Location	chr3:53022937-53034528
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	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:
2	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 443 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:443 , 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	rs530198072	chr3:53023034-53023035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147934459	chr3:53023106-53023107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369513440	chr3:53023108-53023109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565069192	chr3:53023183-53023184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547090877	chr3:53023225-53023226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527779050	chr3:53023269-53023270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9823795	chr3:53023282-53023283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567860821	chr3:53023347-53023348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151216653	chr3:53023350-53023351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2564933	chr3:53023373-53023374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181315986	chr3:53023377-53023378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62253656	chr3:53023428-53023429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs372051982	chr3:53023439-53023440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562158020	chr3:53023452-53023453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572539448	chr3:53023453-53023454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140222330	chr3:53023455-53023456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs60383345	chr3:53023475-53023476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533389096	chr3:53023483-53023484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34304263	chr3:53023502-53023503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563455339	chr3:53023598-53023599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186784516	chr3:53023611-53023612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577857857	chr3:53023626-53023627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11130335	chr3:53023635-53023636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs568910987	chr3:53023636-53023637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191744366	chr3:53023642-53023643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6772715	chr3:53023684-53023685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs542423601	chr3:53023686-53023687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562836532	chr3:53023726-53023727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576236359	chr3:53023774-53023775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78889389	chr3:53023809-53023810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs398082099	chr3:53023818-53023819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs397989628	chr3:53023819-53023820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371157187	chr3:53023850-53023851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568262649	chr3:53023880-53023881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545048874	chr3:53023882-53023883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114055710	chr3:53023894-53023895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567580229	chr3:53023916-53023917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183988827	chr3:53023937-53023938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541128326	chr3:53023943-53023944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534997170	chr3:53023956-53023957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs553910710	chr3:53023995-53023996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6798309	chr3:53024022-53024023	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs146928703	chr3:53024043-53024044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137955028	chr3:53024071-53024072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532851669	chr3:53024088-53024089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13058817	chr3:53024139-53024140	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs17052697	chr3:53024216-53024217	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533742287	chr3:53024247-53024248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553921670	chr3:53024305-53024306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567235817	chr3:53024344-53024345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Acute myeloid leukemia	21251322	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22032731	CNVD
Non-small cell lung cancer	20864512	CNVD
Colorectal cancer	16912164	CNVD
Non-small cell lung cancer	19010865	CNVD
Colorectal cancer	16272173	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21785460	CNVD
Neuroblastoma	17327916	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Septo-optic dysplasia	21572526	CNVD
Biliary cancer	19435499	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
Ventriculomegaly	21325761	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Lung cancer	16618734	CNVD
Neuroblastoma	19686582	CNVD
Renal cell carcinoma	18765545	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
2	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
3	chr3:53012600-53032600	Weak transcription	Pancreas	Pancrea
4	chr3:53016200-53029400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:53018000-53030400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:53018000-53044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:53018600-53032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:53019200-53032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:53019200-53039600	Weak transcription	GM12878-XiMat	blood
12	chr3:53019400-53023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:53019400-53024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:53019800-53023400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:53019800-53024000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:53019800-53024200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:53019800-53024200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr3:53019800-53024400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:53019800-53044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr3:53020400-53024200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:53020400-53024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr3:53020600-53057000	Weak transcription	Dnd41	blood
24	chr3:53022000-53023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr3:53022600-53030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:53022600-53043000	Weak transcription	Primary B cells from peripheral blood	blood
27	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
28	chr3:53023000-53025400	Weak transcription	Lung	lung
29	chr3:53023400-53024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:53023400-53026200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:53023800-53025200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:53024000-53024200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:53024000-53025000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:53024200-53024800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr3:53024200-53025200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:53024200-53025400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:53024200-53025400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr3:53024400-53025200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:53024400-53025200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:53024400-53025200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr3:53024400-53026800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:53024800-53025200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr3:53025200-53025400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr3:53025200-53025600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr3:53025200-53032600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:53025200-53039000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:53025400-53025600	Enhancers	Lung	lung
48	chr3:53025400-53025800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr3:53025400-53026000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr3:53025400-53026800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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