Variant report

Variant	esv14370
Chromosome Location	chr3:98410249-98414880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73133989	chr3:98410273-98410274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548760510	chr3:98410302-98410303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568711758	chr3:98410313-98410314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534270592	chr3:98410321-98410322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147186651	chr3:98410328-98410329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6808728	chr3:98410392-98410393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539839159	chr3:98410399-98410400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556145716	chr3:98410405-98410406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187938055	chr3:98410413-98410414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541797301	chr3:98410493-98410494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570043558	chr3:98410545-98410546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571937293	chr3:98410556-98410557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540696663	chr3:98410559-98410560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563854018	chr3:98410590-98410591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532749875	chr3:98410624-98410625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6806405	chr3:98410628-98410629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564780365	chr3:98410632-98410633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192218906	chr3:98410654-98410655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143882417	chr3:98410676-98410677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111751652	chr3:98410679-98410680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549752854	chr3:98410730-98410731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569092229	chr3:98410731-98410732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201859900	chr3:98410741-98410742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200808207	chr3:98410742-98410743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548635237	chr3:98410753-98410754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568650609	chr3:98410768-98410769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386663772	chr3:98410828-98410829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147848497	chr3:98410829-98410830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372825283	chr3:98410832-98410833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373357730	chr3:98410835-98410836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202219483	chr3:98410836-98410837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200252950	chr3:98410840-98410841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547879010	chr3:98410904-98410905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570969251	chr3:98410914-98410915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539593009	chr3:98410998-98410999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11914312	chr3:98411049-98411050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576390569	chr3:98411153-98411154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78606400	chr3:98411179-98411180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75825960	chr3:98411237-98411238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6794220	chr3:98411302-98411303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375707008	chr3:98411324-98411325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569747962	chr3:98411379-98411380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114960554	chr3:98411429-98411430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192263278	chr3:98411440-98411441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111616162	chr3:98411448-98411449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113366012	chr3:98411452-98411453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543194583	chr3:98411503-98411504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563279418	chr3:98411504-98411505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184320503	chr3:98411508-98411509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144269467	chr3:98411512-98411513	Enhancers Weak transcription	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98409600-98411600	Enhancers	HepG2	liver
2	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
3	chr3:98409800-98411000	Weak transcription	Stomach Mucosa	stomach
4	chr3:98409800-98412200	Enhancers	Fetal Heart	heart
5	chr3:98410000-98411200	Weak transcription	Placenta	Placenta
6	chr3:98410000-98411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:98410000-98412400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:98410200-98414400	Weak transcription	Osteobl	bone
10	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:98411000-98412400	Enhancers	Stomach Mucosa	stomach
12	chr3:98411200-98412400	Enhancers	Placenta	Placenta
13	chr3:98411200-98412800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:98411400-98412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:98411400-98412200	Enhancers	Liver	Liver
16	chr3:98411600-98411800	Flanking Active TSS	HepG2	liver
17	chr3:98411800-98412200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr3:98411800-98412200	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr3:98411800-98412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:98412000-98412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr3:98412200-98414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:98412400-98414200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:98414400-98414800	Enhancers	Osteobl	bone
27	chr3:98414400-98415400	Enhancers	NHEK	skin
28	chr3:98414400-98416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:98414600-98415400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:98414800-98415000	Flanking Active TSS	Osteobl	bone
31	chr3:98414800-98416000	Enhancers	HMEC	breast

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