Variant report

Variant	nsv962465
Chromosome Location	chr18:28689021-28697558
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:28670381..28673006-chr18:28687292..28689679,2	K562	blood:
2	chr18:28689571..28692235-chr18:28693758..28695428,2	K562	blood:
3	chr18:28682670..28684930-chr18:28689763..28691596,2	K562	blood:
4	chr18:28681172..28683355-chr18:28689605..28692486,2	K562	blood:
5	chr18:28689571..28692235-chr18:28693758..28695428,2	K562	blood:
6	chr18:28681327..28682828-chr18:28692315..28694009,2	K562	blood:
7	chr18:28692982..28695806-chr18:28698647..28700392,2	K562	blood:
8	chr18:28678241..28681068-chr18:28692831..28695270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265888	chromatin interactions
ENSG00000134755	chromatin interactions

Extended variants
information (count: 201 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:201 , 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	rs555521643	chr18:28689401-28689402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572424333	chr18:28689415-28689416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545841408	chr18:28689420-28689421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564446164	chr18:28689427-28689428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531840727	chr18:28689448-28689449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550061683	chr18:28689479-28689480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561987835	chr18:28689513-28689514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188245012	chr18:28689541-28689542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547499462	chr18:28689570-28689571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556503752	chr18:28689590-28689591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs180723136	chr18:28689611-28689612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539434580	chr18:28689696-28689697	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs574188431	chr18:28689717-28689718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs35038412	chr18:28689719-28689720	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs541633431	chr18:28689721-28689722	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs35304234	chr18:28689724-28689725	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs373074815	chr18:28689726-28689727	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553505523	chr18:28689763-28689764	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116562363	chr18:28689776-28689777	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572328511	chr18:28689843-28689844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs545745532	chr18:28689849-28689850	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs369069800	chr18:28689872-28689873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573367601	chr18:28689889-28689890	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78997255	chr18:28689914-28689915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs1893709	chr18:28689961-28689962	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs545799007	chr18:28689970-28689971	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs144606712	chr18:28689988-28689989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576020224	chr18:28689997-28689998	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140754558	chr18:28690009-28690010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562024609	chr18:28690019-28690020	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529514793	chr18:28690045-28690046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs114285658	chr18:28690053-28690054	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs559409905	chr18:28690074-28690075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532930612	chr18:28690133-28690134	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35869074	chr18:28690147-28690148	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs186389313	chr18:28690253-28690254	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs569701207	chr18:28690262-28690263	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs530496526	chr18:28690287-28690288	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142984408	chr18:28690306-28690307	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544614046	chr18:28690313-28690314	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191246010	chr18:28690348-28690349	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147491412	chr18:28690409-28690410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs58321639	chr18:28690413-28690414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74925110	chr18:28690427-28690428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183639250	chr18:28690435-28690436	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs539589173	chr18:28690449-28690450	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373332777	chr18:28690483-28690484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576058861	chr18:28690561-28690562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372875186	chr18:28690588-28690589	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs186939437	chr18:28690611-28690612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28689400-28692400	Weak transcription	K562	blood
2	chr18:28690000-28690200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:28690200-28690400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:28691800-28694600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:28692400-28692600	Enhancers	K562	blood
6	chr18:28694400-28694600	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links