Variant report

Variant	esv3449617
Chromosome Location	chr18:24707241-24707442
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558572637	chr18:24707260-24707261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9945788	chr18:24707300-24707301	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193208881	chr18:24707316-24707317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138332718	chr18:24707317-24707318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374385115	chr18:24707319-24707320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28377196	chr18:24707350-24707351	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs560629617	chr18:24707381-24707382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149628342	chr18:24707414-24707415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115811379	chr18:24707430-24707431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78134625	chr18:24707431-24707432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
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
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
Sudden cardiac death	19188705	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
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24698800-24715600	Weak transcription	Pancreas	Pancrea
2	chr18:24702600-24709800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr18:24704800-24709400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:24705000-24709800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr18:24705400-24709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:24705800-24709600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:24705800-24709600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:24705800-24709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:24706000-24709600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr18:24706000-24715600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr18:24706400-24709600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:24706800-24709800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr18:24706800-24710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr18:24707200-24708000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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