Variant report

Variant	esv3387713
Chromosome Location	chr18:7983802-7986700
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	chr18:7986635..7988175-chr18:7990212..7991772,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559404994	chr18:7983806-7983807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73383844	chr18:7983817-7983818	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115914966	chr18:7983834-7983835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142109422	chr18:7983839-7983840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192272097	chr18:7983844-7983845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549963235	chr18:7983874-7983875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184277203	chr18:7983883-7983884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189194095	chr18:7983896-7983897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111821476	chr18:7983943-7983944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140331044	chr18:7984025-7984026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534299885	chr18:7984045-7984046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs117519970	chr18:7984050-7984051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57007178	chr18:7984071-7984072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539714845	chr18:7984130-7984131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556717545	chr18:7984135-7984136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576667933	chr18:7984161-7984162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535992807	chr18:7984181-7984182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528446835	chr18:7984203-7984204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113378428	chr18:7984249-7984250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115149594	chr18:7984268-7984269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182281997	chr18:7984278-7984279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78423203	chr18:7984320-7984321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs543311241	chr18:7984332-7984333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184767179	chr18:7984438-7984439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111748772	chr18:7984466-7984467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548699807	chr18:7984484-7984485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144169473	chr18:7984499-7984500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528143528	chr18:7984518-7984519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs71354583	chr18:7984570-7984571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377239054	chr18:7984571-7984572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551380749	chr18:7984591-7984592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377688357	chr18:7984592-7984593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370363611	chr18:7984594-7984595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188888843	chr18:7984596-7984597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181631132	chr18:7984598-7984599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs8089698	chr18:7984600-7984601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374711228	chr18:7984602-7984603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368153509	chr18:7984604-7984605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372104545	chr18:7984606-7984607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71354584	chr18:7984681-7984682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34754775	chr18:7984720-7984721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61520749	chr18:7984790-7984791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181316363	chr18:7984840-7984841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111219352	chr18:7984851-7984852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573004559	chr18:7984921-7984922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201053444	chr18:7984937-7984938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550484440	chr18:7984944-7984945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570307946	chr18:7984971-7984972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185966860	chr18:7984976-7984977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555930591	chr18:7984989-7984990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Acute lymphoblastic leukemia	17690704	CNVD
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
Urothelial carcinoma	21177765	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
Breast cancer	17133270	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute myeloid leukemia	17377590	CNVD
Schizophrenia	20838587	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7959000-7987400	Weak transcription	Ovary	ovary
2	chr18:7964800-7984200	Weak transcription	Adipose Nuclei	Adipose
3	chr18:7966000-7987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:7966000-7989600	Weak transcription	Lung	lung
5	chr18:7976400-7986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:7977800-7985800	Weak transcription	Brain Anterior Caudate	brain
7	chr18:7977800-7986600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7978200-7986200	Weak transcription	Brain Hippocampus Middle	brain
9	chr18:7978200-7986400	Weak transcription	Aorta	Aorta
10	chr18:7978200-7986400	Weak transcription	Right Atrium	heart
11	chr18:7980200-7985800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr18:7981200-7995600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7982600-7984400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:7982800-7984400	Enhancers	A549	lung
15	chr18:7982800-7986400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:7982800-7986600	Weak transcription	Osteobl	bone
17	chr18:7982800-7986800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr18:7983000-7986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:7983200-7987000	Weak transcription	NH-A	brain
20	chr18:7983400-7984200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr18:7983400-7984400	Enhancers	Fetal Heart	heart
22	chr18:7983400-7986400	Weak transcription	Left Ventricle	heart
23	chr18:7983800-7984400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr18:7983800-7984400	Enhancers	Hela-S3	cervix
25	chr18:7984000-7984400	Enhancers	Brain Angular Gyrus	brain
26	chr18:7984200-7984400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr18:7984200-7984400	Enhancers	Adipose Nuclei	Adipose
28	chr18:7984200-7984400	Enhancers	HepG2	liver
29	chr18:7984400-7985600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:7984400-7986000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7984400-7986200	Weak transcription	Fetal Heart	heart
32	chr18:7984400-7986800	Weak transcription	A549	lung
33	chr18:7984600-7985800	Weak transcription	HepG2	liver
34	chr18:7985800-7986000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr18:7985800-7986600	Enhancers	HepG2	liver
36	chr18:7985800-7987000	Enhancers	Brain Anterior Caudate	brain
37	chr18:7985800-7987000	Enhancers	Brain Substantia Nigra	brain
38	chr18:7985800-7987200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:7986000-7986800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr18:7986200-7986600	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr18:7986200-7986800	Enhancers	Brain Hippocampus Middle	brain
42	chr18:7986200-7987800	Enhancers	Fetal Heart	heart
43	chr18:7986400-7986600	Enhancers	Right Atrium	heart
44	chr18:7986400-7987000	Enhancers	Aorta	Aorta
45	chr18:7986400-7987200	Enhancers	Left Ventricle	heart
46	chr18:7986400-7988000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr18:7986400-7988200	Enhancers	NHDF-Ad	bronchial
48	chr18:7986600-7988000	Enhancers	Osteobl	bone
49	chr18:7986600-7988200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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