Variant report

Variant	esv21155
Chromosome Location	chr18:29146941-29148053
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	chr18:29077257..29078903-chr18:29144506..29147477,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000046604	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9963959	chr18:29146950-29146951	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149205391	chr18:29146957-29146958	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556026491	chr18:29146958-29146959	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs9963820	chr18:29146968-29146969	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs9963742	chr18:29146984-29146985	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185024425	chr18:29146986-29146987	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs115045971	chr18:29147029-29147030	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75652801	chr18:29147039-29147040	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563796038	chr18:29147088-29147089	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530934977	chr18:29147139-29147140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143038106	chr18:29147145-29147146	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560760784	chr18:29147162-29147163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs528338811	chr18:29147193-29147194	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546492476	chr18:29147196-29147197	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4315413	chr18:29147226-29147227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs148183935	chr18:29147254-29147255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550350989	chr18:29147273-29147274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191536037	chr18:29147333-29147334	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs73418151	chr18:29147336-29147337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs116693803	chr18:29147347-29147348	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs371994260	chr18:29147360-29147361	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567883781	chr18:29147363-29147364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs564239616	chr18:29147477-29147478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187149423	chr18:29147478-29147479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553713612	chr18:29147480-29147481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs578218631	chr18:29147484-29147485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576415422	chr18:29147496-29147497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545362994	chr18:29147613-29147614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557108707	chr18:29147638-29147639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1629309	chr18:29147649-29147650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542731695	chr18:29147673-29147674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140074014	chr18:29147705-29147706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528279506	chr18:29147714-29147715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540076639	chr18:29147717-29147718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545462044	chr18:29147718-29147719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114919013	chr18:29147767-29147768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532332821	chr18:29147817-29147818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550536082	chr18:29147824-29147825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150330983	chr18:29147909-29147910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201276303	chr18:29147936-29147937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199582056	chr18:29147937-29147938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200579429	chr18:29147938-29147939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529786916	chr18:29148022-29148023	Weak transcription	n/a	n/a	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
Breast cancer	22522925	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29144200-29147600	Enhancers	Fetal Intestine Large	intestine
2	chr18:29145400-29147600	Enhancers	Fetal Intestine Small	intestine
3	chr18:29146000-29147200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr18:29146200-29147000	Enhancers	Duodenum Mucosa	Duodenum
5	chr18:29146200-29147000	Flanking Active TSS	HepG2	liver
6	chr18:29146600-29147000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr18:29146600-29147400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:29146600-29156600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr18:29146800-29147000	Enhancers	Colonic Mucosa	Colon
10	chr18:29146800-29147000	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr18:29146800-29147200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:29146800-29147800	Enhancers	Liver	Liver
13	chr18:29147000-29148000	Enhancers	HepG2	liver
14	chr18:29147400-29148000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:29147600-29150000	Weak transcription	Fetal Intestine Large	intestine
16	chr18:29147600-29151800	Weak transcription	Fetal Intestine Small	intestine
17	chr18:29147800-29151400	Weak transcription	Liver	Liver
18	chr18:29148000-29152000	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links