Variant report

Variant	esv3317281
Chromosome Location	chr18:8984505-8985569
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	chr18:8983237..8985130-chr18:8988547..8990547,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528120890	chr18:8984505-8984506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72942739	chr18:8984508-8984509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs9304026	chr18:8984510-8984511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs551975394	chr18:8984514-8984515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564142351	chr18:8984539-8984540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs57772889	chr18:8984555-8984556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4798737	chr18:8984556-8984557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150370977	chr18:8984583-8984584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561498262	chr18:8984594-8984595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35564187	chr18:8984617-8984618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9948418	chr18:8984632-8984633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4798738	chr18:8984661-8984662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375989309	chr18:8984667-8984668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4798739	chr18:8984672-8984673	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs4798740	chr18:8984682-8984683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551478094	chr18:8984690-8984691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376761681	chr18:8984708-8984709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117187822	chr18:8984745-8984746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149567380	chr18:8984806-8984807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556106491	chr18:8984813-8984814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71834500	chr18:8984831-8984832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575930815	chr18:8984861-8984862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369608295	chr18:8984888-8984889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566064378	chr18:8984897-8984898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538463221	chr18:8984900-8984901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556744173	chr18:8984901-8984902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4798741	chr18:8984936-8984937	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs545922773	chr18:8984939-8984940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557464169	chr18:8984949-8984950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376042438	chr18:8984984-8984985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9959904	chr18:8984987-8984988	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4798742	chr18:8984988-8984989	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7235240	chr18:8984995-8984996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11390289	chr18:8985014-8985015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544063288	chr18:8985031-8985032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183962060	chr18:8985033-8985034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533265710	chr18:8985045-8985046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551858812	chr18:8985064-8985065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566832490	chr18:8985078-8985079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369726430	chr18:8985079-8985080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373802657	chr18:8985090-8985091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546116643	chr18:8985092-8985093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549670516	chr18:8985133-8985134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143069171	chr18:8985134-8985135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531121417	chr18:8985136-8985137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538564341	chr18:8985139-8985140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556469772	chr18:8985171-8985172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147521113	chr18:8985172-8985173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11279405	chr18:8985198-8985199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs397727232	chr18:8985204-8985205	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8978800-8984600	Enhancers	Rectal Smooth Muscle	rectum
2	chr18:8981200-8987000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:8981400-8988000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr18:8982000-8984600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr18:8982000-8984600	Enhancers	HMEC	breast
6	chr18:8982200-8984800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr18:8982400-8984600	Enhancers	NHDF-Ad	bronchial
8	chr18:8983000-8984600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr18:8983000-8987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:8983200-8984600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr18:8983200-8986400	Weak transcription	Pancreas	Pancrea
12	chr18:8983200-8986800	Weak transcription	A549	lung
13	chr18:8983200-8987000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:8983200-8987000	Weak transcription	HSMM	muscle
15	chr18:8983200-8987000	Weak transcription	NH-A	brain
16	chr18:8983200-8988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr18:8983200-8988800	Enhancers	Colon Smooth Muscle	Colon
18	chr18:8983400-8984600	Enhancers	NHEK	skin
19	chr18:8983400-8986800	Weak transcription	Osteobl	bone
20	chr18:8983400-8987000	Weak transcription	HSMMtube	muscle
21	chr18:8983400-8987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr18:8983400-8987800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr18:8983600-8985800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr18:8983600-8987000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr18:8983600-8987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:8983600-8987400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:8983800-8987400	Weak transcription	Fetal Stomach	stomach
28	chr18:8984200-8986200	Weak transcription	K562	blood
29	chr18:8984200-8987200	Weak transcription	Fetal Thymus	thymus
30	chr18:8984400-8986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr18:8984600-8986000	Weak transcription	Rectal Smooth Muscle	rectum
32	chr18:8984600-8986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:8984600-8986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr18:8984600-8986800	Weak transcription	HMEC	breast
35	chr18:8984600-8986800	Weak transcription	NHDF-Ad	bronchial
36	chr18:8984600-8986800	Weak transcription	NHEK	skin
37	chr18:8984800-8986800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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