Variant report

Variant	nsv591272
Chromosome Location	chr3:110007205-110155824
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
2	chr3:109450507..109451352-chr3:110033129..110033977,4	MCF-7	breast:
3	chr3:109250448..109251796-chr3:110033305..110033942,4	MCF-7	breast:
4	chr3:110101594..110103351-chr3:110109665..110111945,2	K562	blood:
5	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
6	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
7	chr3:110022942..110025817-chr3:110056639..110058339,2	K562	blood:
8	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:
9	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
10	chr3:110136396..110138262-chr4:117404422..117405927,2	MCF-7	breast:
11	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
12	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
13	chr3:110022159..110024501-chr6:145141877..145144734,2	MCF-7	breast:
14	chr3:110064640..110067348-chr3:110084597..110086905,2	MCF-7	breast:
15	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
16	chr3:110148648..110150242-chr3:110157242..110158931,2	MCF-7	breast:
17	chr3:110059725..110061588-chr3:110063064..110065714,2	K562	blood:
18	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
19	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
20	chr3:110102631..110105369-chr3:110107761..110109914,2	MCF-7	breast:
21	chr3:110127793..110130696-chr3:110131755..110134003,2	K562	blood:
22	chr3:110133663..110135868-chr3:110137549..110139998,2	K562	blood:
23	chr3:110033087..110033610-chr3:110063315..110064271,2	K562	blood:
24	chr3:110129196..110131425-chr3:110132503..110134599,2	K562	blood:
25	chr3:110108423..110110947-chr3:110115263..110116866,2	K562	blood:

No data

Extended variants
information (count: 4010 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4010 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79019288	chr3:110009620-110009621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549800019	chr3:110009621-110009622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188453602	chr3:110009657-110009658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112255362	chr3:110009660-110009661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577746092	chr3:110009662-110009663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552202698	chr3:110009668-110009669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9880057	chr3:110009693-110009694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35903034	chr3:110009696-110009697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547076741	chr3:110009719-110009720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565753287	chr3:110009746-110009747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181880066	chr3:110009759-110009760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142621124	chr3:110009783-110009784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574391563	chr3:110009808-110009809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373903294	chr3:110009829-110009830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536289490	chr3:110009871-110009872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556150338	chr3:110009921-110009922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575984158	chr3:110009949-110009950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185667858	chr3:110009969-110009970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565344194	chr3:110009970-110009971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572583337	chr3:110009972-110009973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190134297	chr3:110009983-110009984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553136867	chr3:110009984-110009985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34855973	chr3:110010040-110010041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530408053	chr3:110010108-110010109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75447447	chr3:110010113-110010114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534753231	chr3:110010171-110010172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535285547	chr3:110010211-110010212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563274854	chr3:110010212-110010213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532100477	chr3:110010248-110010249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181792819	chr3:110010265-110010266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2614682	chr3:110010278-110010279	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377510705	chr3:110010284-110010285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186303982	chr3:110010290-110010291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548360079	chr3:110010318-110010319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112560928	chr3:110010337-110010338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190089767	chr3:110010402-110010403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116917945	chr3:110010408-110010409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569728334	chr3:110010409-110010410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539005803	chr3:110010420-110010421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561250419	chr3:110010482-110010483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181323935	chr3:110010565-110010566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546660551	chr3:110010588-110010589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541303405	chr3:110010591-110010592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs80007050	chr3:110010598-110010599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144789882	chr3:110010603-110010604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544147748	chr3:110010699-110010700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563957908	chr3:110010729-110010730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568788250	chr3:110010794-110010795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563792582	chr3:110010819-110010820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539380691	chr3:110010843-110010844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	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
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Multiple myeloma	17550852	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Rett syndrome	21593744	CNVD

Chromatin state (count:466 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110009600-110009800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:110009800-110012800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:110012800-110013200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:110013000-110015200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr3:110013200-110014000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:110014000-110014800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr3:110014800-110019400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:110015200-110015800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:110015200-110016000	Enhancers	HSMM	muscle
10	chr3:110015400-110016000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:110015400-110016000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:110015600-110016000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:110015600-110016000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:110015600-110016000	Enhancers	NH-A	brain
15	chr3:110015800-110016200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:110025400-110027000	Enhancers	Dnd41	blood
17	chr3:110026200-110026800	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr3:110026200-110027200	Enhancers	NHDF-Ad	bronchial
19	chr3:110029000-110030000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr3:110029000-110031400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr3:110030000-110030400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:110030200-110030800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:110030200-110030800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr3:110030200-110031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:110030400-110030600	Enhancers	Brain Hippocampus Middle	brain
26	chr3:110030400-110030800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr3:110030400-110030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:110030400-110031200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:110030400-110031400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr3:110030600-110031000	Enhancers	Fetal Lung	lung
31	chr3:110030800-110033200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:110031400-110034600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:110031400-110034600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:110033000-110033200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:110033000-110033200	Enhancers	Osteobl	bone
36	chr3:110033200-110033400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr3:110033200-110033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr3:110033200-110033600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr3:110033200-110033600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:110033200-110033600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:110033200-110033600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:110033200-110033600	Enhancers	Adipose Nuclei	Adipose
43	chr3:110033200-110033600	Enhancers	Liver	Liver
44	chr3:110033200-110033600	Enhancers	Brain Anterior Caudate	brain
45	chr3:110033200-110033600	Enhancers	Brain Hippocampus Middle	brain
46	chr3:110033200-110033600	Enhancers	Stomach Mucosa	stomach
47	chr3:110033200-110033600	Flanking Active TSS	Osteobl	bone
48	chr3:110033200-110033800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr3:110033200-110034000	Enhancers	NHDF-Ad	bronchial
50	chr3:110033400-110033600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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