Variant report

Variant	esv1813342
Chromosome Location	chr3:98408598-98415549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200298284	chr3:98409456-98409457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568393060	chr3:98409485-98409486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148478843	chr3:98409495-98409496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559229871	chr3:98409521-98409522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569324261	chr3:98409532-98409533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538447768	chr3:98409539-98409540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188065223	chr3:98409572-98409573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562253029	chr3:98409578-98409579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574991303	chr3:98409590-98409591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192461139	chr3:98409591-98409592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542220683	chr3:98409633-98409634	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368936890	chr3:98409658-98409659	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375148043	chr3:98409682-98409683	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376476870	chr3:98409683-98409684	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs554199373	chr3:98409685-98409686	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs201703065	chr3:98409706-98409707	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs62276454	chr3:98409707-98409708	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs150708204	chr3:98409709-98409710	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs545759822	chr3:98409733-98409734	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537349164	chr3:98409782-98409783	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs182427964	chr3:98409834-98409835	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372979350	chr3:98409865-98409866	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs143662332	chr3:98409891-98409892	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549948378	chr3:98409907-98409908	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78669412	chr3:98409912-98409913	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547122329	chr3:98409930-98409931	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112000458	chr3:98409990-98409991	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570092030	chr3:98410003-98410004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112806307	chr3:98410047-98410048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532786422	chr3:98410219-98410220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372530556	chr3:98410245-98410246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569541648	chr3:98410246-98410247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73133989	chr3:98410273-98410274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548760510	chr3:98410302-98410303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568711758	chr3:98410313-98410314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534270592	chr3:98410321-98410322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147186651	chr3:98410328-98410329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6808728	chr3:98410392-98410393	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs539839159	chr3:98410399-98410400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556145716	chr3:98410405-98410406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187938055	chr3:98410413-98410414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541797301	chr3:98410493-98410494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570043558	chr3:98410545-98410546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571937293	chr3:98410556-98410557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540696663	chr3:98410559-98410560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563854018	chr3:98410590-98410591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532749875	chr3:98410624-98410625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6806405	chr3:98410628-98410629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564780365	chr3:98410632-98410633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192218906	chr3:98410654-98410655	Weak transcription 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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98409400-98409600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr3:98409400-98410000	Enhancers	Placenta	Placenta
3	chr3:98409400-98410200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:98409600-98409800	Enhancers	Stomach Mucosa	stomach
5	chr3:98409600-98410000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr3:98409600-98410000	Enhancers	NH-A	brain
7	chr3:98409600-98410200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:98409600-98410200	Enhancers	Osteobl	bone
9	chr3:98409600-98411600	Enhancers	HepG2	liver
10	chr3:98409600-98416000	Enhancers	HUVEC	blood vessel
11	chr3:98409800-98410000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:98409800-98410200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:98409800-98411000	Weak transcription	Stomach Mucosa	stomach
14	chr3:98409800-98412200	Enhancers	Fetal Heart	heart
15	chr3:98410000-98411200	Weak transcription	Placenta	Placenta
16	chr3:98410000-98411400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:98410000-98412400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:98410200-98414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:98410200-98414400	Weak transcription	Osteobl	bone
20	chr3:98410200-98417600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:98411000-98412400	Enhancers	Stomach Mucosa	stomach
22	chr3:98411200-98412400	Enhancers	Placenta	Placenta
23	chr3:98411200-98412800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr3:98411400-98412200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:98411400-98412200	Enhancers	Liver	Liver
26	chr3:98411600-98411800	Flanking Active TSS	HepG2	liver
27	chr3:98411800-98412200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:98411800-98412200	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr3:98411800-98412600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:98412000-98412200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:98412200-98414200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:98412200-98420200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr3:98412400-98414200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr3:98414200-98415400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr3:98414200-98418600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:98414400-98414800	Enhancers	Osteobl	bone
37	chr3:98414400-98415400	Enhancers	NHEK	skin
38	chr3:98414400-98416600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:98414600-98415400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:98414800-98415000	Flanking Active TSS	Osteobl	bone
41	chr3:98414800-98416000	Enhancers	HMEC	breast
42	chr3:98415000-98415200	Enhancers	Osteobl	bone
43	chr3:98415000-98415800	Enhancers	NHLF	lung
44	chr3:98415200-98415400	Flanking Active TSS	Osteobl	bone
45	chr3:98415400-98416800	Enhancers	Osteobl	bone
46	chr3:98415400-98417800	Weak transcription	NHEK	skin
47	chr3:98415400-98420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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