Variant report

Variant	nsv1056800
Chromosome Location	chr18:25357990-25379390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:
2	chr18:25347523..25349302-chr18:25369021..25370534,2	MCF-7	breast:
3	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
4	chr18:25374132..25375724-chr18:25376125..25378154,2	MCF-7	breast:

Extended variants
information (count: 695 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3110550	chr18:25357990-25357991	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs12954761	chr18:25358007-25358008	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577348490	chr18:25358040-25358041	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs368725782	chr18:25358043-25358044	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs371753481	chr18:25358054-25358055	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs187458195	chr18:25358088-25358089	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs143258509	chr18:25358146-25358147	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs192269090	chr18:25358210-25358211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs528380209	chr18:25358229-25358230	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs184898827	chr18:25358244-25358245	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs529881739	chr18:25358285-25358286	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs565049736	chr18:25358287-25358288	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs150161463	chr18:25358346-25358347	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs377321179	chr18:25358352-25358353	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs532672431	chr18:25358357-25358358	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs551058346	chr18:25358393-25358394	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs2714375	chr18:25358419-25358420	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs529995392	chr18:25358441-25358442	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs548559264	chr18:25358523-25358524	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs567091992	chr18:25358540-25358541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs534490924	chr18:25358650-25358651	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs2851761	chr18:25358677-25358678	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs188937283	chr18:25358698-25358699	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs538357370	chr18:25358759-25358760	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs116119438	chr18:25358767-25358768	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs192555824	chr18:25358768-25358769	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542302570	chr18:25358818-25358819	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs554536325	chr18:25358827-25358828	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs372275006	chr18:25358828-25358829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs139096932	chr18:25358846-25358847	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs111243743	chr18:25358894-25358895	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs76034595	chr18:25358949-25358950	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145642361	chr18:25359004-25359005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565089543	chr18:25359024-25359025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149870163	chr18:25359077-25359078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559546560	chr18:25359109-25359110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184438412	chr18:25359143-25359144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138659798	chr18:25359144-25359145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563017647	chr18:25359169-25359170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115164715	chr18:25359206-25359207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548326695	chr18:25359219-25359220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138126608	chr18:25359221-25359222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560511596	chr18:25359265-25359266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189709111	chr18:25359339-25359340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9950182	chr18:25359389-25359390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35659893	chr18:25359391-25359392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373308411	chr18:25359392-25359393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112194858	chr18:25359408-25359409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17668050	chr18:25359424-25359425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs201142471	chr18:25359425-25359426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Acute myeloid leukemia	19651600	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
Schizophrenia	23813976	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25352400-25359600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:25357800-25358200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
3	chr18:25357800-25359000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr18:25357800-25359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr18:25358000-25358200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:25358000-25358200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:25358000-25358400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
8	chr18:25358000-25358800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:25358200-25359600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr18:25358400-25358600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr18:25358400-25359600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr18:25358400-25360000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr18:25358600-25358800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr18:25358600-25359800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:25358600-25359800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr18:25358800-25359000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:25358800-25359200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr18:25359000-25359800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr18:25359000-25360000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr18:25359200-25359800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:25359400-25360200	Enhancers	NH-A	brain
22	chr18:25359400-25360800	Enhancers	Osteobl	bone
23	chr18:25359600-25359800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr18:25359600-25360200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:25359600-25360200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
26	chr18:25359800-25360000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr18:25360000-25360200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
28	chr18:25360000-25360200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr18:25360200-25360400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr18:25360200-25363600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:25360400-25361400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr18:25360600-25361000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr18:25363400-25363800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:25363600-25363800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:25363600-25364000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr18:25363800-25364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:25363800-25365800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr18:25364000-25366000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:25364400-25364600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:25364600-25365600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr18:25365600-25366600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr18:25365600-25367000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:25365800-25366000	Enhancers	Brain Anterior Caudate	brain
44	chr18:25365800-25366400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:25365800-25366400	Active TSS	Brain Cingulate Gyrus	brain
46	chr18:25365800-25366400	Enhancers	Fetal Muscle Trunk	muscle
47	chr18:25365800-25366400	Enhancers	Lung	lung
48	chr18:25365800-25366600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:25365800-25366600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr18:25365800-25366600	Active TSS	Brain Inferior Temporal Lobe	brain

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