Variant report

Variant	esv3418293
Chromosome Location	chr18:9412426-9412780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9406727..9409038-chr18:9412405..9414105,2	MCF-7	breast:
2	chr18:9411062..9413935-chr18:9415854..9418802,3	K562	blood:
3	chr18:9405425..9408641-chr18:9409577..9413054,4	K562	blood:
4	chr18:9405862..9408641-chr18:9410954..9412458,2	K562	blood:
5	chr18:9402400..9404038-chr18:9411064..9413182,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8094970	chr18:9412451-9412452	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184018327	chr18:9412483-9412484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs8096040	chr18:9412485-9412486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs8083076	chr18:9412494-9412495	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535270972	chr18:9412515-9412516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs75883367	chr18:9412518-9412519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
7	rs575324793	chr18:9412527-9412528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117833657	chr18:9412568-9412569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564098674	chr18:9412575-9412576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs111559919	chr18:9412582-9412583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540894392	chr18:9412666-9412667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111624215	chr18:9412695-9412696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs143177615	chr18:9412725-9412726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189426217	chr18:9412744-9412745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563422603	chr18:9412758-9412759	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
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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9388800-9413200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr18:9396600-9413800	Weak transcription	NH-A	brain
3	chr18:9397200-9413600	Weak transcription	HSMMtube	muscle
4	chr18:9397200-9416800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr18:9397800-9416600	Weak transcription	HSMM	muscle
6	chr18:9399600-9413600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:9400600-9413400	Weak transcription	Osteobl	bone
8	chr18:9400600-9416600	Weak transcription	Brain Anterior Caudate	brain
9	chr18:9401400-9413800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:9401600-9413600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr18:9404000-9413000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr18:9404000-9416800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9405000-9412600	Weak transcription	Fetal Stomach	stomach
14	chr18:9405000-9417000	Weak transcription	Right Atrium	heart
15	chr18:9405600-9417400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:9406400-9413400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:9406400-9414800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:9412200-9414000	Enhancers	Fetal Lung	lung
19	chr18:9412400-9414000	Enhancers	Fetal Kidney	kidney
20	chr18:9412600-9414000	Enhancers	Fetal Stomach	stomach

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