Variant report

Variant	nsv590806
Chromosome Location	chr3:82923361-83022387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:82831608..82833347-chr3:82961368..82963419,2	MCF-7	breast:
2	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:
3	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:
4	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
5	chr3:82975227..82977618-chr3:82982531..82984366,2	MCF-7	breast:
6	chr3:82997480..83000246-chr3:83000555..83002406,2	MCF-7	breast:
7	chr3:82973939..82976504-chr3:82990521..82993011,2	MCF-7	breast:

Extended variants
information (count: 438 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:438 , 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	rs533803326	chr3:82931729-82931730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185598056	chr3:82931786-82931787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565110252	chr3:82931792-82931793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527460780	chr3:82931818-82931819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551244189	chr3:82931821-82931822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547747811	chr3:82931872-82931873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567557764	chr3:82931891-82931892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189326604	chr3:82931905-82931906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549752453	chr3:82931939-82931940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373799007	chr3:82931944-82931945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569507403	chr3:82932077-82932078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191372066	chr3:82932157-82932158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560858274	chr3:82932187-82932188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558344884	chr3:82932219-82932220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35799375	chr3:82932228-82932229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571841663	chr3:82932237-82932238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566254529	chr3:82932240-82932241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374829666	chr3:82932252-82932253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183726690	chr3:82932262-82932263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35108406	chr3:82932274-82932275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs66501635	chr3:82932275-82932276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6807614	chr3:82932295-82932296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs13070676	chr3:82932296-82932297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573991690	chr3:82932335-82932336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542868372	chr3:82932341-82932342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370257908	chr3:82932432-82932433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149325798	chr3:82932433-82932434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374820776	chr3:82932447-82932448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556531388	chr3:82932453-82932454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs71112063	chr3:82932455-82932456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146723598	chr3:82932456-82932457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201987432	chr3:82932457-82932458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188484290	chr3:82932471-82932472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs545511850	chr3:82932472-82932473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145310560	chr3:82932514-82932515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578220226	chr3:82932530-82932531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs527522018	chr3:82932534-82932535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs111854501	chr3:82932539-82932540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181325389	chr3:82932540-82932541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557088087	chr3:82932542-82932543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561016167	chr3:82932572-82932573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530023155	chr3:82932580-82932581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543087994	chr3:82932619-82932620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148010066	chr3:82932704-82932705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185270692	chr3:82932716-82932717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9824341	chr3:82932744-82932745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572688725	chr3:82932760-82932761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373146047	chr3:82932761-82932762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528288592	chr3:82932786-82932787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1496619	chr3:82942040-82942041	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Medulloblastoma	16783165	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82931600-82932800	Enhancers	Dnd41	blood
2	chr3:82942000-82943200	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:82942400-82943200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr3:82943800-82944000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr3:82976400-82977600	Enhancers	HepG2	liver
6	chr3:82976600-82977600	Enhancers	Liver	Liver
7	chr3:82987800-82989200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:82987800-82989600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr3:82988600-82989000	Enhancers	Spleen	Spleen
10	chr3:83010800-83011400	Enhancers	Dnd41	blood
11	chr3:83011400-83011800	Weak transcription	Dnd41	blood
12	chr3:83011800-83013000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr3:83011800-83013000	Enhancers	Dnd41	blood
14	chr3:83012000-83012400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:83012000-83012400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr3:83012000-83012800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr3:83012200-83012400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr3:83020400-83023000	Weak transcription	Psoas Muscle	Psoas

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