Variant report

Variant	nsv817792
Chromosome Location	chr18:43556952-43561238
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 175 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:175 , 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	rs584397	chr18:43556952-43556953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs8094456	chr18:43556975-43556976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563770465	chr18:43557024-43557025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369368340	chr18:43557053-43557054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531034302	chr18:43557060-43557061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546130530	chr18:43557061-43557062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184877730	chr18:43557105-43557106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558648548	chr18:43557122-43557123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188449112	chr18:43557127-43557128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113874500	chr18:43557138-43557139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139182770	chr18:43557145-43557146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144058985	chr18:43557202-43557203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371895906	chr18:43557216-43557217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146421740	chr18:43557226-43557227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568573672	chr18:43557254-43557255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71358418	chr18:43557302-43557303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs680190	chr18:43557317-43557318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139833584	chr18:43557359-43557360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533821699	chr18:43557420-43557421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553371519	chr18:43557455-43557456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149668546	chr18:43557487-43557488	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574184364	chr18:43557522-43557523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542434249	chr18:43557539-43557540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563049825	chr18:43557599-43557600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180707736	chr18:43557602-43557603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186454659	chr18:43557603-43557604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369306078	chr18:43557614-43557615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs678872	chr18:43557625-43557626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190935614	chr18:43557772-43557773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9952570	chr18:43557778-43557779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561638076	chr18:43557785-43557786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529159677	chr18:43557837-43557838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550315373	chr18:43557848-43557849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182055041	chr18:43557854-43557855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533011704	chr18:43557856-43557857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112130322	chr18:43557927-43557928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11082503	chr18:43557928-43557929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566592723	chr18:43557953-43557954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533553422	chr18:43557974-43557975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372441667	chr18:43557994-43557995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568721932	chr18:43558001-43558002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536176383	chr18:43558016-43558017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71358419	chr18:43558043-43558044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111801633	chr18:43558094-43558095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1370827	chr18:43558163-43558164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575888831	chr18:43558165-43558166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540051876	chr18:43558201-43558202	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs117243695	chr18:43558341-43558342	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573326203	chr18:43558343-43558344	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs540221480	chr18:43558352-43558353	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
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
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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16912164	CNVD
Lung cancer	18438408	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21508638	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16461302	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Pilomyxoid astrocytoma	17436254	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	16891809	CNVD
Idiopathic thrombocytopenic purpura	19566914	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43548000-43567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:43548200-43562800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr18:43554200-43567200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:43554400-43558200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr18:43554400-43566200	Weak transcription	Liver	Liver
6	chr18:43554600-43557000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr18:43554600-43557200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:43554600-43557200	Weak transcription	HUVEC	blood vessel
9	chr18:43554600-43557400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:43554600-43558800	Weak transcription	Primary B cells from cord blood	blood
11	chr18:43554600-43560000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:43554600-43560000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr18:43554600-43560000	Weak transcription	Fetal Heart	heart
14	chr18:43554600-43560000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr18:43554600-43560000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:43554600-43562600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr18:43554600-43563000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr18:43554600-43566200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:43554600-43566800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:43554600-43567400	Weak transcription	Adipose Nuclei	Adipose
21	chr18:43554600-43567800	Weak transcription	Primary T cells from cord blood	blood
22	chr18:43554600-43567800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr18:43554600-43568000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:43554600-43568800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr18:43554600-43571400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr18:43554800-43558200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr18:43555000-43562600	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr18:43555800-43557400	Enhancers	K562	blood
29	chr18:43556200-43557200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:43556400-43557200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr18:43556600-43557400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:43556800-43557200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:43556800-43557200	Enhancers	NHLF	lung
34	chr18:43556800-43557200	Enhancers	Osteobl	bone
35	chr18:43557000-43557400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr18:43557200-43557400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:43557200-43557400	Enhancers	Left Ventricle	heart
38	chr18:43557200-43557600	Enhancers	HUVEC	blood vessel
39	chr18:43557200-43557800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:43557200-43558800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr18:43557200-43558800	Enhancers	Pancreas	Pancrea
42	chr18:43557200-43567200	Weak transcription	Osteobl	bone
43	chr18:43557200-43573400	Weak transcription	NHLF	lung
44	chr18:43557400-43557800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:43557400-43558600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
46	chr18:43557400-43558600	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr18:43557400-43558600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr18:43557400-43558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr18:43557400-43558600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr18:43557400-43560000	Weak transcription	K562	blood

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