Variant report

Variant	esv1215312
Chromosome Location	chr18:29540599-29541079
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr18:29540668-29541042	A549	lung:	n/a	n/a

Variant related genes	Relation type
PGDP1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368253852	chr18:29540655-29540656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9748909	chr18:29540774-29540775	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs193221501	chr18:29540781-29540782	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs546088106	chr18:29540799-29540800	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs9748536	chr18:29540816-29540817	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs541441851	chr18:29540865-29540866	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs9748538	chr18:29540882-29540883	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs9748802	chr18:29540898-29540899	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs545051525	chr18:29540925-29540926	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376927465	chr18:29540926-29540927	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563473002	chr18:29540941-29540942	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs530685852	chr18:29540942-29540943	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs371109868	chr18:29540956-29540957	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs28407428	chr18:29540961-29540962	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs8092056	chr18:29541037-29541038	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9676072	chr18:29541038-29541039	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113570933	chr18:29541041-29541042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs534895676	chr18:29541050-29541051	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29539400-29545200	Weak transcription	Fetal Intestine Small	intestine

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