Variant report

Variant	esv3509847
Chromosome Location	chr3:98383311-98416424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:98391064..98393925-chr3:98395948..98398945,2	K562	blood:
2	chr3:98386847..98388821-chr3:98390572..98392318,2	K562	blood:
3	chr3:98391064..98393925-chr3:98395948..98398945,2	K562	blood:
4	chr3:98388705..98390319-chr3:98395278..98397892,2	MCF-7	breast:
5	chr3:98386847..98388821-chr3:98390572..98392318,2	K562	blood:
6	chr3:98394828..98396802-chr3:98418414..98420079,2	MCF-7	breast:
7	chr3:98388705..98390319-chr3:98395278..98397892,2	MCF-7	breast:

Extended variants
information (count: 402 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556061743	chr3:98383317-98383318	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200580282	chr3:98383326-98383327	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs572009082	chr3:98383343-98383344	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534724413	chr3:98383345-98383346	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557283081	chr3:98383346-98383347	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577210842	chr3:98383347-98383348	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs564853347	chr3:98383350-98383351	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs543050428	chr3:98383351-98383352	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs184329070	chr3:98383352-98383353	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs201945555	chr3:98383359-98383360	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs397875871	chr3:98383360-98383361	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs373059214	chr3:98383381-98383382	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs189441444	chr3:98383390-98383391	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542024328	chr3:98383399-98383400	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs115633811	chr3:98388401-98388402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568226205	chr3:98388402-98388403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534085867	chr3:98388454-98388455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554158475	chr3:98388458-98388459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541652682	chr3:98388459-98388460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7629667	chr3:98388466-98388467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185295107	chr3:98388467-98388468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539682691	chr3:98388512-98388513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370164930	chr3:98388516-98388517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576111109	chr3:98388540-98388541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368354537	chr3:98388542-98388543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372891549	chr3:98388576-98388577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373375111	chr3:98388577-98388578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111920731	chr3:98388587-98388588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188781229	chr3:98388640-98388641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561732314	chr3:98388648-98388649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74739439	chr3:98388718-98388719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74580224	chr3:98388726-98388727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75207923	chr3:98388828-98388829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78169219	chr3:98388842-98388843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552380429	chr3:98388855-98388856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562812256	chr3:98388901-98388902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34824387	chr3:98388931-98388932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531844111	chr3:98388994-98388995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548243999	chr3:98389023-98389024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs542182912	chr3:98389044-98389045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568439511	chr3:98389089-98389090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534226427	chr3:98389110-98389111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576507168	chr3:98389115-98389116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80314231	chr3:98389161-98389162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570790190	chr3:98389174-98389175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143687728	chr3:98389201-98389202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181202626	chr3:98389210-98389211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146238732	chr3:98389262-98389263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539114154	chr3:98389268-98389269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185566732	chr3:98389307-98389308	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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98383200-98383400	Flanking Active TSS	Placenta	Placenta
2	chr3:98388400-98389600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr3:98388600-98389000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:98388600-98389000	Enhancers	Stomach Mucosa	stomach
5	chr3:98388600-98389400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr3:98388800-98389200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:98388800-98389400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:98388800-98389400	Enhancers	HMEC	breast
9	chr3:98398000-98398200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:98399400-98399800	Enhancers	NHEK	skin
11	chr3:98400400-98400600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:98400400-98401000	Enhancers	Gastric	stomach
13	chr3:98400400-98401600	Enhancers	Stomach Mucosa	stomach
14	chr3:98400400-98401800	Enhancers	HepG2	liver
15	chr3:98409400-98409600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:98409400-98410000	Enhancers	Placenta	Placenta
17	chr3:98409400-98410200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:98409600-98409800	Enhancers	Stomach Mucosa	stomach
19	chr3:98409600-98410000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr3:98409600-98410000	Enhancers	NH-A	brain
21	chr3:98409600-98410200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:98409600-98410200	Enhancers	Osteobl	bone
23	chr3:98409600-98411600	Enhancers	HepG2	liver
24	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
25	chr3:98409800-98410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:98409800-98410200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:98409800-98411000	Weak transcription	Stomach Mucosa	stomach
28	chr3:98409800-98412200	Enhancers	Fetal Heart	heart
29	chr3:98410000-98411200	Weak transcription	Placenta	Placenta
30	chr3:98410000-98411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:98410000-98412400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:98410200-98414400	Weak transcription	Osteobl	bone
34	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:98411000-98412400	Enhancers	Stomach Mucosa	stomach
36	chr3:98411200-98412400	Enhancers	Placenta	Placenta
37	chr3:98411200-98412800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr3:98411400-98412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:98411400-98412200	Enhancers	Liver	Liver
40	chr3:98411600-98411800	Flanking Active TSS	HepG2	liver
41	chr3:98411800-98412200	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:98411800-98412200	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr3:98411800-98412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:98412000-98412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr3:98412200-98414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:98412400-98414200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
50	chr3:98414400-98414800	Enhancers	Osteobl	bone

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