Variant report

Variant	nsv525529
Chromosome Location	chr3:83579878-83625938
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	chr11:62608635..62609144-chr3:83616947..83617466,2	NB4	blood:
2	chr3:83511456..83513865-chr3:83615176..83616890,2	K562	blood:

Extended variants
information (count: 298 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:298 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190974098	chr3:83584812-83584813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144436065	chr3:83584880-83584881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1349797	chr3:83584883-83584884	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs71328446	chr3:83584925-83584926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545765210	chr3:83585012-83585013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142639734	chr3:83585041-83585042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1453732	chr3:83585057-83585058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574969956	chr3:83585086-83585087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146035619	chr3:83585120-83585121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139991257	chr3:83585135-83585136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549833151	chr3:83585154-83585155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113040550	chr3:83585172-83585173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202128990	chr3:83585182-83585183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543975913	chr3:83585205-83585206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187984752	chr3:83585268-83585269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114367232	chr3:83585269-83585270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191236524	chr3:83585298-83585299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554815004	chr3:83585305-83585306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574652436	chr3:83585315-83585316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370566440	chr3:83585319-83585320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78599088	chr3:83585349-83585350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557124327	chr3:83585372-83585373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557863405	chr3:83585397-83585398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs536981617	chr3:83585400-83585401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79311928	chr3:83585405-83585406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182606394	chr3:83585409-83585410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576583557	chr3:83585422-83585423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77899886	chr3:83585423-83585424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12714569	chr3:83585431-83585432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188225205	chr3:83585477-83585478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77592685	chr3:83585481-83585482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13062745	chr3:83585495-83585496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563850894	chr3:83585521-83585522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532634350	chr3:83585533-83585534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369157488	chr3:83585554-83585555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143355171	chr3:83585557-83585558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566025481	chr3:83585603-83585604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534629017	chr3:83585652-83585653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs150784158	chr3:83585677-83585678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs370789257	chr3:83605436-83605437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181600570	chr3:83605444-83605445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557590657	chr3:83605470-83605471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570137767	chr3:83605499-83605500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186298765	chr3:83605536-83605537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2318141	chr3:83605541-83605542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566318367	chr3:83605551-83605552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140728138	chr3:83605570-83605571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191188929	chr3:83605592-83605593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182493922	chr3:83605609-83605610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs568604433	chr3:83605610-83605611	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
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
Acute myeloid leukemia	20729466	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
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
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	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
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:83584800-83585400	Enhancers	Dnd41	blood
2	chr3:83585400-83585600	Weak transcription	Dnd41	blood
3	chr3:83585600-83585800	ZNF genes & repeats	Dnd41	blood
4	chr3:83605400-83605800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:83605600-83605800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:83605800-83606000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:83606800-83607400	Enhancers	Dnd41	blood
8	chr3:83614600-83614800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr3:83614800-83615400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:83614800-83616800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:83615400-83616600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr3:83615800-83616200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:83616200-83616600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:83616600-83616800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr3:83616600-83617000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:83616600-83617000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:83616600-83617600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:83616600-83617600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr3:83616600-83618000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:83616600-83619600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:83616800-83617000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr3:83616800-83617000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:83616800-83617400	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr3:83616800-83619400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:83617000-83617200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:83617000-83617400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr3:83617000-83617400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:83617200-83617600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr3:83617400-83617600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:83617400-83618800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr3:83617600-83618400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr3:83618800-83619200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr3:83619200-83619800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:83622400-83622600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr3:83623200-83623400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr3:83623200-83623600	Enhancers	Muscle Satellite Cultured Cells	--

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