Variant report

Variant	esv2480689
Chromosome Location	chr18:25827295-25828818
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:25828025..25830927-chr20:45947091..45949515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101040	chromatin interactions
ENSG00000267882	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367671027	chr18:25828059-25828060	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs28361725	chr18:25828062-25828063	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs552130700	chr18:25828068-25828069	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs564161588	chr18:25828205-25828206	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531658856	chr18:25828206-25828207	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs550258500	chr18:25828207-25828208	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568912838	chr18:25828208-25828209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529897580	chr18:25828209-25828210	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs11564291	chr18:25828216-25828217	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs552411181	chr18:25828272-25828273	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548126696	chr18:25828292-25828293	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186157869	chr18:25828303-25828304	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs72888194	chr18:25828347-25828348	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558561818	chr18:25828371-25828372	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570468986	chr18:25828373-25828374	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144014651	chr18:25828391-25828392	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs556218356	chr18:25828410-25828411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs146894324	chr18:25828415-25828416	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542392237	chr18:25828483-25828484	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11877930	chr18:25828511-25828512	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556251523	chr18:25828522-25828523	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191076594	chr18:25828586-25828587	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78548066	chr18:25828592-25828593	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs568046567	chr18:25828594-25828595	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139356950	chr18:25828599-25828600	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564098645	chr18:25828626-25828627	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531735215	chr18:25828660-25828661	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs543500431	chr18:25828678-25828679	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs562204509	chr18:25828686-25828687	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs529394166	chr18:25828703-25828704	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs183189135	chr18:25828726-25828727	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368541511	chr18:25828739-25828740	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566686523	chr18:25828757-25828758	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527552394	chr18:25828795-25828796	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs552512484	chr18:25828814-25828815	Enhancers	Chromatin interactive region	2 gene(s)	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
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:25828600-25829200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr18:25828600-25829200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr18:25828800-25829200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr18:25828800-25829200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr18:25828800-25829200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr18:25828800-25829200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr18:25828800-25829200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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