Variant report

Variant	nsv3909
Chromosome Location	chr3:89644400-89695533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:11968828..11971360-chr3:89649996..89651496,2	K562	blood:
2	chr3:89645876..89647847-chr3:89649873..89652502,3	MCF-7	breast:
3	chr3:89648727..89651109-chr3:89653242..89655047,2	MCF-7	breast:
4	chr3:89645876..89647847-chr3:89649873..89652502,3	MCF-7	breast:
5	chr3:89648727..89651109-chr3:89653242..89655047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201801	chromatin interactions

Extended variants
information (count: 906 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:906 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6762214	chr3:89644411-89644412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186050071	chr3:89644412-89644413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528500430	chr3:89644435-89644436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540113720	chr3:89644445-89644446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565156367	chr3:89644503-89644504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532318856	chr3:89644513-89644514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550706884	chr3:89644515-89644516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1368732	chr3:89644517-89644518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550847985	chr3:89644542-89644543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6762344	chr3:89644560-89644561	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs368007541	chr3:89644562-89644563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115319733	chr3:89644566-89644567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146053658	chr3:89644640-89644641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533742755	chr3:89644646-89644647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539808846	chr3:89644685-89644686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558204989	chr3:89644695-89644696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11921427	chr3:89644697-89644698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7355987	chr3:89644699-89644700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375105508	chr3:89644705-89644706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564793695	chr3:89644755-89644756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114702696	chr3:89644770-89644771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190857243	chr3:89644785-89644786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557528229	chr3:89644786-89644787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575788223	chr3:89644863-89644864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534334498	chr3:89644889-89644890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555672390	chr3:89644926-89644927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140006974	chr3:89644961-89644962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577614355	chr3:89644969-89644970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115669560	chr3:89644985-89644986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183914064	chr3:89645016-89645017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2069183	chr3:89645017-89645018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs556398016	chr3:89645024-89645025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187928944	chr3:89645055-89645056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192491036	chr3:89645069-89645070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562690684	chr3:89645138-89645139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529945926	chr3:89645139-89645140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182990234	chr3:89645144-89645145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7635408	chr3:89645168-89645169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187319440	chr3:89645200-89645201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192739191	chr3:89645210-89645211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570401028	chr3:89645211-89645212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184782982	chr3:89645259-89645260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368972094	chr3:89645281-89645282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551024387	chr3:89645318-89645319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569087731	chr3:89645328-89645329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536419632	chr3:89645358-89645359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564144548	chr3:89645359-89645360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371038921	chr3:89645367-89645368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528168309	chr3:89645408-89645409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375340906	chr3:89645452-89645453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
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
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
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Soft tissue tumor	16732325	CNVD
Neurodevelopmental disorder	22521361	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	20164920	CNVD
Lung cancer	19547694	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:89637200-89650600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:89652400-89652800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:89662400-89662600	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr3:89662400-89662800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr3:89662400-89662800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:89662400-89662800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:89662400-89662800	Enhancers	Ovary	ovary
8	chr3:89662400-89663800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:89662800-89663600	Weak transcription	Ovary	ovary
10	chr3:89663600-89663800	Enhancers	Ovary	ovary
11	chr3:89663800-89664800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:89663800-89666800	Weak transcription	Ovary	ovary
13	chr3:89664800-89665200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:89665200-89674600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:89666800-89667200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:89666800-89667600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:89666800-89667600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:89666800-89667600	Bivalent Enhancer	Fetal Heart	heart
19	chr3:89666800-89667600	Enhancers	HMEC	breast
20	chr3:89667000-89667200	Enhancers	Ovary	ovary
21	chr3:89667000-89667400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:89673600-89673800	Enhancers	HepG2	liver
23	chr3:89674000-89675000	Weak transcription	HepG2	liver
24	chr3:89674600-89675200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:89675000-89675400	Enhancers	HepG2	liver
26	chr3:89675200-89675600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:89675600-89675800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:89677600-89679000	Enhancers	Fetal Heart	heart
29	chr3:89678200-89678800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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