Variant report

Variant	nsv432473
Chromosome Location	chr3:109875668-109918190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 879 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560490726	chr3:109876008-109876009	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139999544	chr3:109876035-109876036	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543124683	chr3:109876073-109876074	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs190035949	chr3:109876109-109876110	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562816275	chr3:109876127-109876128	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531813336	chr3:109876144-109876145	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551594564	chr3:109876164-109876165	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181905718	chr3:109876189-109876190	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115147061	chr3:109876194-109876195	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569336950	chr3:109876202-109876203	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540053683	chr3:109876235-109876236	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs547643216	chr3:109876246-109876247	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs567268294	chr3:109876255-109876256	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187628599	chr3:109876290-109876291	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs191498645	chr3:109876291-109876292	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149843725	chr3:109876303-109876304	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs183765040	chr3:109876340-109876341	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187836932	chr3:109876359-109876360	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375261856	chr3:109876426-109876427	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146848297	chr3:109876428-109876429	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs140641856	chr3:109876470-109876471	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560391057	chr3:109876473-109876474	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190134358	chr3:109876526-109876527	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs12233453	chr3:109876529-109876530	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs562884908	chr3:109876627-109876628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576501071	chr3:109876676-109876677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545097358	chr3:109876693-109876694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565142346	chr3:109876700-109876701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143311670	chr3:109876744-109876745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534135357	chr3:109876770-109876771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547705492	chr3:109876812-109876813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555818361	chr3:109876814-109876815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200521121	chr3:109876817-109876818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561451784	chr3:109876846-109876847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116530741	chr3:109876858-109876859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549549324	chr3:109876922-109876923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569628775	chr3:109876952-109876953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73853159	chr3:109876962-109876963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563025227	chr3:109876984-109876985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552260491	chr3:109876986-109876987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577756493	chr3:109877010-109877011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7434250	chr3:109877042-109877043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34807676	chr3:109877082-109877083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534784863	chr3:109877087-109877088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554730301	chr3:109877094-109877095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146693898	chr3:109877104-109877105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34274183	chr3:109877180-109877181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182040870	chr3:109877308-109877309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559978301	chr3:109877378-109877379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186633624	chr3:109877382-109877383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:109876000-109876400	Enhancers	Fetal Heart	heart
2	chr3:109876000-109876600	Active TSS	Aorta	Aorta
3	chr3:109876000-109876600	Enhancers	HSMMtube	muscle
4	chr3:109876200-109876600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:109876600-109884400	Weak transcription	Aorta	Aorta
6	chr3:109881600-109882400	Enhancers	Ovary	ovary
7	chr3:109881800-109882800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:109882000-109883600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:109882200-109884000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:109882200-109884200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:109882400-109882600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:109882400-109882600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr3:109882400-109883600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:109882400-109883800	Weak transcription	Ovary	ovary
15	chr3:109882400-109884000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:109882400-109884000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:109882600-109883400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:109882800-109884000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:109882800-109884000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:109882800-109884400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:109883200-109885400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:109883400-109884000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:109883400-109884200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:109883400-109884200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:109883600-109884000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr3:109883600-109884000	Enhancers	A549	lung
27	chr3:109883600-109884600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr3:109883600-109884800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr3:109883800-109884200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:109883800-109884200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:109883800-109884200	Active TSS	Ovary	ovary
32	chr3:109883800-109884400	Enhancers	Fetal Stomach	stomach
33	chr3:109883800-109884800	Enhancers	Fetal Lung	lung
34	chr3:109883800-109886200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:109884000-109884200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr3:109884000-109884400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr3:109884000-109884400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr3:109884000-109884400	Enhancers	HepG2	liver
39	chr3:109884000-109884600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:109884000-109884600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr3:109884000-109884600	Flanking Active TSS	A549	lung
42	chr3:109884000-109884800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:109884000-109885000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr3:109884000-109885000	Enhancers	Stomach Mucosa	stomach
45	chr3:109884200-109884400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr3:109884200-109884400	Weak transcription	Ovary	ovary
47	chr3:109884200-109884800	Active TSS	Liver	Liver
48	chr3:109884200-109885000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:109884200-109885000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr3:109884200-109885000	Enhancers	NHLF	lung

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