Variant report

Variant	nsv437801
Chromosome Location	chr3:98395217-98416900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98394828..98396802-chr3:98418414..98420079,2	MCF-7	breast:
2	chr3:98391064..98393925-chr3:98395948..98398945,2	K562	blood:
3	chr3:98388705..98390319-chr3:98395278..98397892,2	MCF-7	breast:

Extended variants
information (count: 359 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:359 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529092515	chr3:98398031-98398032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548651021	chr3:98398035-98398036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543096265	chr3:98398042-98398043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565465484	chr3:98398047-98398048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373208187	chr3:98398055-98398056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73857182	chr3:98398091-98398092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141497895	chr3:98398106-98398107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571077930	chr3:98398119-98398120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539743467	chr3:98398146-98398147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556858385	chr3:98398163-98398164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576696752	chr3:98398187-98398188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190845722	chr3:98398197-98398198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142395712	chr3:98399452-98399453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544763627	chr3:98399521-98399522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565021794	chr3:98399523-98399524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531969724	chr3:98399570-98399571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530399251	chr3:98399699-98399700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564373818	chr3:98399770-98399771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147916391	chr3:98400414-98400415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551967139	chr3:98400441-98400442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552252003	chr3:98400495-98400496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571609361	chr3:98400525-98400526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141640069	chr3:98400531-98400532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551613157	chr3:98400532-98400533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567307927	chr3:98400533-98400534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72928856	chr3:98400564-98400565	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371448428	chr3:98400585-98400586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552966235	chr3:98400586-98400587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs573109996	chr3:98400618-98400619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538417583	chr3:98400633-98400634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183004436	chr3:98400670-98400671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113185549	chr3:98400675-98400676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575393044	chr3:98400694-98400695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544312907	chr3:98400728-98400729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114117742	chr3:98400733-98400734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370514777	chr3:98400761-98400762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188078823	chr3:98400763-98400764	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540253582	chr3:98400766-98400767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs28886652	chr3:98400767-98400768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143690543	chr3:98400794-98400795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146687066	chr3:98400796-98400797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs367664965	chr3:98400797-98400798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs57772027	chr3:98400831-98400832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60787986	chr3:98400865-98400866	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551635789	chr3:98400903-98400904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192455081	chr3:98400929-98400930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557187599	chr3:98400932-98400933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182423215	chr3:98400948-98400949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187656602	chr3:98400962-98400963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532920954	chr3:98400963-98400964	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98398000-98398200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:98399400-98399800	Enhancers	NHEK	skin
3	chr3:98400400-98400600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:98400400-98401000	Enhancers	Gastric	stomach
5	chr3:98400400-98401600	Enhancers	Stomach Mucosa	stomach
6	chr3:98400400-98401800	Enhancers	HepG2	liver
7	chr3:98409400-98409600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:98409400-98410000	Enhancers	Placenta	Placenta
9	chr3:98409400-98410200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:98409600-98409800	Enhancers	Stomach Mucosa	stomach
11	chr3:98409600-98410000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr3:98409600-98410000	Enhancers	NH-A	brain
13	chr3:98409600-98410200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:98409600-98410200	Enhancers	Osteobl	bone
15	chr3:98409600-98411600	Enhancers	HepG2	liver
16	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
17	chr3:98409800-98410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:98409800-98410200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:98409800-98411000	Weak transcription	Stomach Mucosa	stomach
20	chr3:98409800-98412200	Enhancers	Fetal Heart	heart
21	chr3:98410000-98411200	Weak transcription	Placenta	Placenta
22	chr3:98410000-98411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:98410000-98412400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:98410200-98414400	Weak transcription	Osteobl	bone
26	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:98411000-98412400	Enhancers	Stomach Mucosa	stomach
28	chr3:98411200-98412400	Enhancers	Placenta	Placenta
29	chr3:98411200-98412800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr3:98411400-98412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:98411400-98412200	Enhancers	Liver	Liver
32	chr3:98411600-98411800	Flanking Active TSS	HepG2	liver
33	chr3:98411800-98412200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr3:98411800-98412200	Flanking Bivalent TSS/Enh	HepG2	liver
35	chr3:98411800-98412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:98412000-98412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:98412200-98414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:98412400-98414200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr3:98414400-98414800	Enhancers	Osteobl	bone
43	chr3:98414400-98415400	Enhancers	NHEK	skin
44	chr3:98414400-98416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:98414600-98415400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:98414800-98415000	Flanking Active TSS	Osteobl	bone
47	chr3:98414800-98416000	Enhancers	HMEC	breast
48	chr3:98415000-98415200	Enhancers	Osteobl	bone
49	chr3:98415000-98415800	Enhancers	NHLF	lung
50	chr3:98415200-98415400	Flanking Active TSS	Osteobl	bone

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