Variant report

Variant	nsv877250
Chromosome Location	chr3:103372647-103450591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:
2	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
3	chr3:103424446..103427403-chr3:103429119..103430974,2	MCF-7	breast:
4	chr3:103418196..103420246-chr3:103431375..103433647,2	MCF-7	breast:

Extended variants
information (count: 1551 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1551 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145663211	chr3:103373620-103373621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371103577	chr3:103373629-103373630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557826245	chr3:103373641-103373642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572870861	chr3:103373656-103373657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184733302	chr3:103373671-103373672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555176444	chr3:103373680-103373681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12630575	chr3:103373711-103373712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568582033	chr3:103373713-103373714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544108495	chr3:103373755-103373756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189253533	chr3:103373771-103373772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115946080	chr3:103373778-103373779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59057365	chr3:103373787-103373788	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74664603	chr3:103373792-103373793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528486091	chr3:103373813-103373814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546938687	chr3:103373819-103373820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58154386	chr3:103373848-103373849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558201847	chr3:103373850-103373851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563838326	chr3:103373879-103373880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141009933	chr3:103373906-103373907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374383072	chr3:103373917-103373918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574750523	chr3:103373940-103373941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145073659	chr3:103373976-103373977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567127512	chr3:103373982-103373983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185828298	chr3:103374032-103374033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189475282	chr3:103374041-103374042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573691352	chr3:103374044-103374045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533573539	chr3:103374064-103374065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72960116	chr3:103374070-103374071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546544614	chr3:103374075-103374076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150928043	chr3:103374079-103374080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560016087	chr3:103374098-103374099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372649382	chr3:103374173-103374174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140786709	chr3:103374225-103374226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375872985	chr3:103374275-103374276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572275632	chr3:103374290-103374291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs181166142	chr3:103374295-103374296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540296629	chr3:103374302-103374303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562096929	chr3:103374324-103374325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528681438	chr3:103374338-103374339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529408171	chr3:103374345-103374346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186027904	chr3:103374377-103374378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150107491	chr3:103374433-103374434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs67466009	chr3:103374450-103374451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145567972	chr3:103374454-103374455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs67929491	chr3:103374457-103374458	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs114482766	chr3:103374465-103374466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548745174	chr3:103374480-103374481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369155136	chr3:103374487-103374488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537398500	chr3:103374494-103374495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570526767	chr3:103374518-103374519	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
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
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
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
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Developmental delay	22180640	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:103373600-103375800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr3:103374400-103375400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr3:103383600-103383800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr3:103383800-103395000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:103388200-103388600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:103391400-103391800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:103393400-103393800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:103393600-103393800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:103393800-103409000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:103403200-103404000	Enhancers	Fetal Lung	lung
11	chr3:103403800-103404200	Enhancers	Fetal Kidney	kidney
12	chr3:103404200-103404600	Enhancers	Fetal Heart	heart
13	chr3:103409000-103410200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:103412600-103413200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:103423200-103424800	Enhancers	Fetal Heart	heart
17	chr3:103425400-103426200	Enhancers	NHEK	skin
18	chr3:103425400-103426400	Enhancers	HMEC	breast
19	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:103425600-103426200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:103426200-103430800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:103426200-103430800	Weak transcription	NHEK	skin
23	chr3:103426200-103431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:103426400-103431000	Weak transcription	HMEC	breast
25	chr3:103427600-103427800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:103430800-103431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:103430800-103431800	Enhancers	HUVEC	blood vessel
28	chr3:103430800-103431800	Enhancers	NHEK	skin
29	chr3:103431000-103431400	Enhancers	HMEC	breast
30	chr3:103431000-103431800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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