Variant report

Variant	esv3317557
Chromosome Location	chr18:8995687-8995855
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	chr18:8994783..8997706-chr18:9000144..9004964,4	K562	blood:
2	chr18:8994783..8997467-chr18:9000144..9004591,4	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151309702	chr18:8995687-8995688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184636623	chr18:8995716-8995717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556135131	chr18:8995732-8995733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545586471	chr18:8995735-8995736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs66469248	chr18:8995747-8995748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528527949	chr18:8995749-8995750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568339835	chr18:8995762-8995763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561896803	chr18:8995768-8995769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529309983	chr18:8995803-8995804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377345109	chr18:8995816-8995817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569554855	chr18:8995828-8995829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8990600-8998800	Weak transcription	A549	lung
2	chr18:8991400-8996600	Weak transcription	Liver	Liver
3	chr18:8991400-8998400	Weak transcription	Colon Smooth Muscle	Colon
4	chr18:8991400-8998600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr18:8991600-8996000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr18:8991600-8996200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:8991600-8998600	Weak transcription	NH-A	brain
8	chr18:8991800-8996000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:8991800-8996400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr18:8991800-8998600	Weak transcription	NHLF	lung
11	chr18:8994400-8996800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr18:8995200-8996200	Weak transcription	HMEC	breast
13	chr18:8995400-8995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:8995400-8995800	Weak transcription	NHDF-Ad	bronchial
15	chr18:8995400-8996000	Weak transcription	K562	blood
16	chr18:8995800-8996600	Enhancers	NHDF-Ad	bronchial
17	chr18:8995800-8997000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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