Variant report

Variant	nsv1055332
Chromosome Location	chr18:25426081-25459328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:25428285..25431235-chr18:25432716..25435281,2	MCF-7	breast:
2	chr18:25359374..25361805-chr18:25445268..25447379,2	K562	blood:
3	chr18:25423651..25425891-chr18:25426260..25429048,2	K562	blood:
4	chr18:25428285..25431235-chr18:25432716..25435281,2	MCF-7	breast:

Extended variants
information (count: 733 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532923159	chr18:25426098-25426099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545145944	chr18:25426120-25426121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184010811	chr18:25426121-25426122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528825528	chr18:25426156-25426157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75733375	chr18:25426162-25426163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144896795	chr18:25426179-25426180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560984737	chr18:25426210-25426211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528434500	chr18:25426211-25426212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540592058	chr18:25426230-25426231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35362118	chr18:25426231-25426232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565528621	chr18:25426313-25426314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532607110	chr18:25426347-25426348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188806904	chr18:25426418-25426419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551546465	chr18:25426479-25426480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3924268	chr18:25426499-25426500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs149020276	chr18:25426523-25426524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs3924269	chr18:25426530-25426531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192516353	chr18:25426559-25426560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs3924270	chr18:25426612-25426613	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs60259328	chr18:25426678-25426679	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571555591	chr18:25426685-25426686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560821662	chr18:25426721-25426722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553653982	chr18:25426734-25426735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77996738	chr18:25426797-25426798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111573188	chr18:25426824-25426825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578222442	chr18:25426858-25426859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575083356	chr18:25426927-25426928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182645626	chr18:25426969-25426970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9944711	chr18:25426974-25426975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs140682309	chr18:25426987-25426988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557528026	chr18:25427019-25427020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540582248	chr18:25427040-25427041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75536335	chr18:25427044-25427045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532867517	chr18:25427109-25427110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370823194	chr18:25427125-25427126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186890305	chr18:25427137-25427138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563090700	chr18:25427154-25427155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145772788	chr18:25427170-25427171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138367282	chr18:25427183-25427184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191630081	chr18:25427233-25427234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7227177	chr18:25427236-25427237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546622981	chr18:25427251-25427252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142841888	chr18:25427320-25427321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538960898	chr18:25427322-25427323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75980048	chr18:25427330-25427331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568733393	chr18:25427331-25427332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535995492	chr18:25427406-25427407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184101189	chr18:25427453-25427454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573328242	chr18:25427533-25427534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534013482	chr18:25427534-25427535	Weak transcription Enhancers	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
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

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25424400-25428000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr18:25424600-25429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:25424800-25426800	Weak transcription	HUVEC	blood vessel
4	chr18:25425200-25428600	Enhancers	Dnd41	blood
5	chr18:25426000-25426200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:25426800-25427800	Enhancers	HUVEC	blood vessel
7	chr18:25427000-25428200	Enhancers	Fetal Intestine Large	intestine
8	chr18:25427200-25428200	Enhancers	Fetal Intestine Small	intestine
9	chr18:25428000-25428600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:25428600-25433600	Weak transcription	Dnd41	blood
11	chr18:25433400-25434000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:25436400-25440000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:25437600-25438800	Enhancers	Fetal Heart	heart
14	chr18:25438000-25438200	Enhancers	Left Ventricle	heart
15	chr18:25438800-25439000	Flanking Active TSS	Fetal Heart	heart
16	chr18:25439000-25439200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:25439000-25439200	Enhancers	Fetal Heart	heart
18	chr18:25439200-25439400	Flanking Active TSS	Fetal Heart	heart
19	chr18:25439200-25440000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:25439200-25440600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:25439200-25441400	Enhancers	HMEC	breast
22	chr18:25439400-25440800	Enhancers	Dnd41	blood
23	chr18:25439400-25441200	Enhancers	NHEK	skin
24	chr18:25439400-25442200	Enhancers	Fetal Heart	heart
25	chr18:25439600-25440200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr18:25439600-25441200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:25439800-25440200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:25439800-25441200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr18:25440000-25440200	Enhancers	Gastric	stomach
31	chr18:25440000-25440200	Enhancers	HSMM	muscle
32	chr18:25440000-25441000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:25440000-25441000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:25440000-25441200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:25440000-25441200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:25440000-25441200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr18:25440000-25441200	Enhancers	Left Ventricle	heart
38	chr18:25440000-25441600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:25440000-25441800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:25440000-25441800	Enhancers	Fetal Muscle Leg	muscle
41	chr18:25440000-25441800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr18:25440200-25440400	Flanking Active TSS	HSMM	muscle
43	chr18:25440200-25440600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:25440200-25440600	Enhancers	HepG2	liver
45	chr18:25440200-25440600	Enhancers	HSMMtube	muscle
46	chr18:25440200-25444200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr18:25440400-25440800	Active TSS	HSMM	muscle
48	chr18:25440600-25441000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:25440600-25441000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr18:25440600-25441000	Enhancers	Cortex derived primary cultured neurospheres	brain

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