Variant report

Variant	esv2761992
Chromosome Location	chr18:11519620-11523010
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	chr18:11513286..11515221-chr18:11517194..11519674,2	K562	blood:
2	chr18:11518713..11519703-chr18:11552996..11553743,6	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9957500	chr18:11519620-11519621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530812908	chr18:11519628-11519629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570827997	chr18:11519655-11519656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193200392	chr18:11519674-11519675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9957350	chr18:11519690-11519691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs150700702	chr18:11519692-11519693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140122099	chr18:11519745-11519746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566160113	chr18:11519775-11519776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183825421	chr18:11519790-11519791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9946715	chr18:11519814-11519815	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs570041046	chr18:11519871-11519872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369724049	chr18:11519960-11519961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9957674	chr18:11519995-11519996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9303737	chr18:11520045-11520046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs9303738	chr18:11520073-11520074	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs9303739	chr18:11520098-11520099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552839763	chr18:11520099-11520100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8083400	chr18:11520101-11520102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542083029	chr18:11520115-11520116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557173582	chr18:11520145-11520146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187787344	chr18:11520168-11520169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34470063	chr18:11520184-11520185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10468678	chr18:11520185-11520186	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs532446920	chr18:11520189-11520190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191094962	chr18:11520194-11520195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183686819	chr18:11520210-11520211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530111067	chr18:11520243-11520244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369014013	chr18:11520256-11520257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10468622	chr18:11520282-11520283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188405764	chr18:11520288-11520289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371183895	chr18:11520383-11520384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552549762	chr18:11520455-11520456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10468623	chr18:11520475-11520476	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs534361552	chr18:11520506-11520507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552920388	chr18:11520521-11520522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10468624	chr18:11520532-11520533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs528846811	chr18:11520543-11520544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143843590	chr18:11520599-11520600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10468625	chr18:11520651-11520652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs557210447	chr18:11520652-11520653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59970782	chr18:11520719-11520720	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs146453085	chr18:11520721-11520722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139841120	chr18:11520737-11520738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573074997	chr18:11520743-11520744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs192646974	chr18:11520767-11520768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149695104	chr18:11520785-11520786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574607132	chr18:11520786-11520787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541879684	chr18:11520804-11520805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563544101	chr18:11520807-11520808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531057829	chr18:11520815-11520816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Melanoma	18172304	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
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11512400-11520600	Weak transcription	Right Atrium	heart
2	chr18:11515600-11520400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:11518200-11520600	Weak transcription	NHDF-Ad	bronchial
4	chr18:11518200-11523600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:11519000-11523000	Weak transcription	Hela-S3	cervix
6	chr18:11519200-11523600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:11519200-11532800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:11519400-11520400	Weak transcription	HepG2	liver
9	chr18:11519600-11520200	Weak transcription	Osteobl	bone
10	chr18:11519600-11529200	Weak transcription	Fetal Lung	lung
11	chr18:11520200-11520800	Enhancers	Osteobl	bone
12	chr18:11520400-11520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:11520400-11521200	Enhancers	HSMMtube	muscle
14	chr18:11520600-11520800	Enhancers	HepG2	liver
15	chr18:11520600-11520800	Enhancers	NHDF-Ad	bronchial
16	chr18:11520600-11521000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:11520600-11521200	Enhancers	NH-A	brain
18	chr18:11520600-11521800	Enhancers	HSMM	muscle
19	chr18:11520800-11523600	Weak transcription	Osteobl	bone
20	chr18:11520800-11524000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:11521200-11522600	Weak transcription	HSMMtube	muscle
22	chr18:11521200-11522800	Weak transcription	NH-A	brain
23	chr18:11521800-11522000	Enhancers	NHDF-Ad	bronchial
24	chr18:11522000-11529000	Weak transcription	NHDF-Ad	bronchial
25	chr18:11522200-11522400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr18:11522400-11523600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr18:11522600-11523000	Enhancers	HSMMtube	muscle
28	chr18:11522600-11525000	Enhancers	HUVEC	blood vessel
29	chr18:11522800-11524600	Enhancers	NH-A	brain
30	chr18:11523000-11523200	Enhancers	Pancreas	Pancrea
31	chr18:11523000-11524600	Enhancers	Hela-S3	cervix

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