Variant report

Variant	esv3428158
Chromosome Location	chr18:25682354-25684527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17468924	chr18:25682402-25682403	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549811730	chr18:25682409-25682410	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372814967	chr18:25682417-25682418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189134267	chr18:25682428-25682429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181835296	chr18:25682454-25682455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62103108	chr18:25682463-25682464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186377507	chr18:25682485-25682486	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562874040	chr18:25682487-25682488	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560338072	chr18:25682521-25682522	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191182344	chr18:25682528-25682529	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180829400	chr18:25682537-25682538	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557692599	chr18:25682548-25682549	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186285239	chr18:25682574-25682575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377497885	chr18:25682587-25682588	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11564390	chr18:25682588-25682589	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs573745274	chr18:25682617-25682618	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78832955	chr18:25682660-25682661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570490513	chr18:25682686-25682687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541016125	chr18:25682703-25682704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144337110	chr18:25682711-25682712	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190981689	chr18:25682840-25682841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545654994	chr18:25682936-25682937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374669445	chr18:25683015-25683016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183299671	chr18:25683020-25683021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370755729	chr18:25683024-25683025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531115486	chr18:25683041-25683042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185718542	chr18:25683087-25683088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2586575	chr18:25683144-25683145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568142928	chr18:25683158-25683159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2847464	chr18:25683214-25683215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546854876	chr18:25683232-25683233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs66502168	chr18:25683265-25683266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147131702	chr18:25683300-25683301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398120249	chr18:25683303-25683304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71378968	chr18:25683305-25683306	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535751299	chr18:25683306-25683307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12959410	chr18:25683312-25683313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12964994	chr18:25683315-25683316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553626921	chr18:25683340-25683341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12965019	chr18:25683343-25683344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs71266952	chr18:25683350-25683351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528957723	chr18:25683368-25683369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28692471	chr18:25683372-25683373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12965032	chr18:25683377-25683378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547421178	chr18:25683391-25683392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201494884	chr18:25683398-25683399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs36201380	chr18:25683399-25683400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375212785	chr18:25683407-25683408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568718918	chr18:25683421-25683422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28667449	chr18:25683435-25683436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Esophageal squamous carcinoma	18350619	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Glioblastoma multiforme	21922591	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Breast cancer	21785460	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	21297112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	16912164	CNVD
Renal cell carcinoma	19150565	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19150955	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25655800-25690800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:25668200-25688000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:25670400-25687800	Weak transcription	Brain Germinal Matrix	brain
4	chr18:25670600-25690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:25672000-25688000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:25673000-25688400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr18:25673600-25687400	Weak transcription	HepG2	liver
8	chr18:25675200-25688400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr18:25676000-25685000	Weak transcription	NH-A	brain
10	chr18:25676200-25688400	Weak transcription	Osteobl	bone
11	chr18:25677200-25687200	Weak transcription	Fetal Brain Female	brain
12	chr18:25678200-25685200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr18:25678800-25684400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr18:25678800-25687600	Weak transcription	Liver	Liver
15	chr18:25679000-25688200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:25680400-25688400	Weak transcription	HSMM	muscle
17	chr18:25680600-25688000	Weak transcription	Left Ventricle	heart
18	chr18:25680800-25686800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr18:25681400-25687400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:25681600-25683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:25682200-25682800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr18:25682200-25686400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:25682800-25687600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:25683800-25684200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:25684200-25687600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:25684400-25686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links