Variant report

Variant	nsv1006561
Chromosome Location	chr3:53019313-53039104
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	chr3:53025419..53026271-chr3:53080327..53081039,2	MCF-7	breast:
3	chr3:52776114..52776854-chr3:53020723..53021564,2	K562	blood:
4	chr3:53029648..53031787-chr3:53078604..53081365,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163935	chromatin interactions

Extended variants
information (count: 776 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:776 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376107593	chr3:53019320-53019321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs34197484	chr3:53019357-53019358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142682806	chr3:53019383-53019384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536939238	chr3:53019426-53019427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557180518	chr3:53019441-53019442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577172507	chr3:53019464-53019465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573284759	chr3:53019472-53019473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575074871	chr3:53019516-53019517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146938898	chr3:53019643-53019644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs137999224	chr3:53019645-53019646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573361645	chr3:53019657-53019658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192732268	chr3:53019704-53019705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185109289	chr3:53019710-53019711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575932247	chr3:53019735-53019736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189991027	chr3:53019780-53019781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564752896	chr3:53019879-53019880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532032339	chr3:53019896-53019897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551721096	chr3:53019918-53019919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34561018	chr3:53019964-53019965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs111926339	chr3:53019971-53019972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528152008	chr3:53019976-53019977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144784456	chr3:53019988-53019989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568170806	chr3:53020025-53020026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537203435	chr3:53020029-53020030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375626202	chr3:53020031-53020032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550624999	chr3:53020043-53020044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372310322	chr3:53020059-53020060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6777554	chr3:53020063-53020064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs141951256	chr3:53020082-53020083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553383323	chr3:53020107-53020108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573419588	chr3:53020111-53020112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182377113	chr3:53020129-53020130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535941446	chr3:53020150-53020151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577668880	chr3:53020154-53020155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34923532	chr3:53020161-53020162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77887001	chr3:53020162-53020163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75187799	chr3:53020164-53020165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74641339	chr3:53020177-53020178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs71278608	chr3:53020178-53020179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555788007	chr3:53020212-53020213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575749747	chr3:53020257-53020258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544763294	chr3:53020264-53020265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564639818	chr3:53020295-53020296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577900017	chr3:53020334-53020335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545422126	chr3:53020346-53020347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185081310	chr3:53020427-53020428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528038108	chr3:53020428-53020429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547885562	chr3:53020473-53020474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561795736	chr3:53020499-53020500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530635711	chr3:53020504-53020505	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:196 , 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	chr3:53012600-53019600	Weak transcription	Psoas Muscle	Psoas
4	chr3:53012600-53032600	Weak transcription	Pancreas	Pancrea
5	chr3:53016000-53019800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:53016200-53019400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr3:53016200-53019800	Enhancers	Primary B cells from peripheral blood	blood
8	chr3:53016200-53029400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:53017000-53020600	Enhancers	Dnd41	blood
10	chr3:53017600-53019400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:53017600-53019400	Enhancers	Brain Hippocampus Middle	brain
12	chr3:53017600-53019800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:53017800-53019800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:53018000-53019600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr3:53018000-53019800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr3:53018000-53019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr3:53018000-53030400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:53018000-53044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:53018200-53019800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:53018200-53020400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:53018200-53045200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr3:53018400-53019400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:53018400-53019400	Enhancers	Primary B cells from cord blood	blood
24	chr3:53018400-53019800	Enhancers	Primary T cells from cord blood	blood
25	chr3:53018400-53019800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr3:53018400-53020400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:53018400-53020600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:53018600-53019400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr3:53018600-53032800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:53018800-53019400	Enhancers	Brain Substantia Nigra	brain
31	chr3:53019000-53057200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr3:53019200-53032800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr3:53019200-53039600	Weak transcription	GM12878-XiMat	blood
34	chr3:53019400-53021800	Weak transcription	Primary B cells from cord blood	blood
35	chr3:53019400-53023800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:53019400-53024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:53019600-53019800	Enhancers	Psoas Muscle	Psoas
38	chr3:53019600-53056400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:53019800-53022000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:53019800-53023400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:53019800-53024000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr3:53019800-53024200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:53019800-53024200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr3:53019800-53024400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:53019800-53044400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr3:53020400-53024200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:53020400-53024400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr3:53020600-53020800	Enhancers	Lung	lung
49	chr3:53020600-53021400	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr3:53020600-53057000	Weak transcription	Dnd41	blood

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