Variant report

Variant	esv3343916
Chromosome Location	chr18:24474135-24474395
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560525094	chr18:24474137-24474138	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527939383	chr18:24474178-24474179	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12963431	chr18:24474185-24474186	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs564801735	chr18:24474187-24474188	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550465437	chr18:24474217-24474218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375147852	chr18:24474237-24474238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550324669	chr18:24474255-24474256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs163059	chr18:24474267-24474268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529760639	chr18:24474270-24474271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548220870	chr18:24474315-24474316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554745693	chr18:24474316-24474317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566460975	chr18:24474323-24474324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566226619	chr18:24474366-24474367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533773470	chr18:24474386-24474387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:24473800-24474200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr18:24473800-24474600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:24473800-24474800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:24473800-24475400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr18:24473800-24475600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:24473800-24475600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr18:24473800-24476000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr18:24474000-24474400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr18:24474000-24474800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr18:24474000-24475600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr18:24474200-24475200	Weak transcription	H9 Cell Line	embryonic stem cell

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