Variant report

Variant	nsv1004730
Chromosome Location	chr3:53022010-53039267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53037209..53039730-chr3:53079605..53081876,2	MCF-7	breast:
2	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:
3	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2564932	chr3:53022010-53022011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188233928	chr3:53022068-53022069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529164291	chr3:53022069-53022070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2581823	chr3:53022076-53022077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs145248926	chr3:53022095-53022096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544775983	chr3:53022174-53022175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531561441	chr3:53022199-53022200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34902382	chr3:53022244-53022245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149074757	chr3:53022311-53022312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs374548878	chr3:53022316-53022317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571374242	chr3:53022332-53022333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557049166	chr3:53022356-53022357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180983518	chr3:53022378-53022379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371922896	chr3:53022405-53022406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114754842	chr3:53022406-53022407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2581824	chr3:53022408-53022409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs62253654	chr3:53022455-53022456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs575196801	chr3:53022463-53022464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531278838	chr3:53022466-53022467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373371963	chr3:53022482-53022483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537414315	chr3:53022507-53022508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143139275	chr3:53022510-53022511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577796258	chr3:53022518-53022519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112223249	chr3:53022535-53022536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369898257	chr3:53022566-53022567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376618398	chr3:53022576-53022577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62253655	chr3:53022611-53022612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540459987	chr3:53022620-53022621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185409048	chr3:53022642-53022643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573892270	chr3:53022688-53022689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190108242	chr3:53022704-53022705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562613312	chr3:53022719-53022720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531747709	chr3:53022827-53022828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551346617	chr3:53022842-53022843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530198072	chr3:53023034-53023035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147934459	chr3:53023106-53023107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369513440	chr3:53023108-53023109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565069192	chr3:53023183-53023184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547090877	chr3:53023225-53023226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527779050	chr3:53023269-53023270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9823795	chr3:53023282-53023283	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567860821	chr3:53023347-53023348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151216653	chr3:53023350-53023351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2564933	chr3:53023373-53023374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181315986	chr3:53023377-53023378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62253656	chr3:53023428-53023429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs372051982	chr3:53023439-53023440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562158020	chr3:53023452-53023453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572539448	chr3:53023453-53023454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140222330	chr3:53023455-53023456	Weak transcription Enhancers	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:168 , 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	chr3:53022000-53022400	Weak transcription	Primary B cells from cord blood	blood
25	chr3:53022000-53022600	Enhancers	Primary B cells from peripheral blood	blood
26	chr3:53022000-53023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:53022400-53022600	Enhancers	Primary B cells from cord blood	blood
28	chr3:53022600-53030600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:53022600-53043000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:53022600-53050400	Weak transcription	Primary B cells from cord blood	blood
31	chr3:53023000-53025400	Weak transcription	Lung	lung
32	chr3:53023400-53024400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:53023400-53026200	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:53023800-53025200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr3:53024000-53024200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr3:53024000-53025000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:53024200-53024800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr3:53024200-53025200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:53024200-53025400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:53024200-53025400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:53024400-53025200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:53024400-53025200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:53024400-53025200	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr3:53024400-53026800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:53024800-53025200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr3:53025200-53025400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:53025200-53025600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:53025200-53032600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:53025200-53039000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr3:53025400-53025600	Enhancers	Lung	lung

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