Variant report

Variant	nsv878098
Chromosome Location	chr3:190657163-190689247
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 591 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:591 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181495537	chr3:190659158-190659159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76597798	chr3:190659165-190659166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141711414	chr3:190659258-190659259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550233219	chr3:190659317-190659318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535329735	chr3:190659356-190659357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73065778	chr3:190659362-190659363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186447166	chr3:190659375-190659376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77626152	chr3:190659390-190659391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34808904	chr3:190659402-190659403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372103192	chr3:190659412-190659413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575944796	chr3:190659430-190659431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113743667	chr3:190659485-190659486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563207858	chr3:190659495-190659496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146236140	chr3:190659545-190659546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13065568	chr3:190659591-190659592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184604970	chr3:190659605-190659606	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559489803	chr3:190659622-190659623	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555536042	chr3:190659627-190659628	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73065780	chr3:190659652-190659653	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369473334	chr3:190659705-190659706	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs57487631	chr3:190659730-190659731	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188403589	chr3:190659739-190659740	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs368855849	chr3:190659865-190659866	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs180869057	chr3:190659900-190659901	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs561664240	chr3:190659904-190659905	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530010167	chr3:190659913-190659914	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs550154185	chr3:190659915-190659916	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs372563021	chr3:190660052-190660053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570014061	chr3:190660129-190660130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73065783	chr3:190660152-190660153	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552440916	chr3:190660244-190660245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369508435	chr3:190660265-190660266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540572213	chr3:190660279-190660280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535264714	chr3:190660290-190660291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555265322	chr3:190660312-190660313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185073557	chr3:190660320-190660321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536595017	chr3:190660335-190660336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141891775	chr3:190660359-190660360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191057008	chr3:190660379-190660380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560330056	chr3:190660393-190660394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs377060355	chr3:190660419-190660420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576803213	chr3:190660457-190660458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545879862	chr3:190660500-190660501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552827296	chr3:190660506-190660507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369221424	chr3:190660528-190660529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151120069	chr3:190660533-190660534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541645590	chr3:190660537-190660538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182045710	chr3:190660543-190660544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187098589	chr3:190660560-190660561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544223582	chr3:190660594-190660595	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	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
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:190659000-190659800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr3:190659200-190659600	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:190659200-190660200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:190659200-190660600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:190659600-190660000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr3:190659600-190660000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr3:190659600-190660000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:190659600-190660200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:190660000-190660200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:190667400-190668000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr3:190677000-190677400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr3:190677000-190677800	Enhancers	Fetal Intestine Large	intestine
13	chr3:190677400-190682800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:190681200-190681800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:190681800-190682000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:190681800-190682000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:190681800-190682200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:190681800-190682400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:190682000-190682800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:190682000-190682800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:190682400-190683200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:190682400-190683400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr3:190682400-190683400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:190682400-190683400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr3:190682400-190683400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr3:190682400-190683400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:190682800-190683200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:190682800-190683200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:190682800-190683200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:190682800-190683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:190682800-190683200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:190682800-190683200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:190682800-190683200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr3:190682800-190683200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr3:190682800-190683200	Active TSS	Placenta	Placenta
36	chr3:190682800-190683200	Active TSS	Fetal Stomach	stomach
37	chr3:190682800-190683400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr3:190682800-190683400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr3:190682800-190683400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:190682800-190683400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr3:190682800-190683400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr3:190682800-190683400	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr3:190682800-190683400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr3:190682800-190683400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:190683200-190684800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:190683400-190685600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:190683400-190686000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr3:190683400-190686000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr3:190683400-190686000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:190683400-190686200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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