Variant report

Variant	esv2647835
Chromosome Location	chr18:8205906-8210605
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	chr18:8197911..8201497-chr18:8204347..8207548,3	MCF-7	breast:

Extended variants
information (count: 230 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113740054	chr18:8205918-8205919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544745026	chr18:8205936-8205937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539612726	chr18:8205943-8205944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181480449	chr18:8205948-8205949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566412824	chr18:8206012-8206013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533850667	chr18:8206033-8206034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186173606	chr18:8206066-8206067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138043842	chr18:8206101-8206102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369692585	chr18:8206144-8206145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73391943	chr18:8206157-8206158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs79758924	chr18:8206167-8206168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144755188	chr18:8206169-8206170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9958544	chr18:8206173-8206174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554442866	chr18:8206204-8206205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112188366	chr18:8206246-8206247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372870989	chr18:8206247-8206248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55773269	chr18:8206270-8206271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200147591	chr18:8206271-8206272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200871047	chr18:8206272-8206273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201984860	chr18:8206273-8206274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138780326	chr18:8206291-8206292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11081362	chr18:8206292-8206293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113494478	chr18:8206314-8206315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528893140	chr18:8206323-8206324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543914376	chr18:8206358-8206359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11081363	chr18:8206377-8206378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs111414020	chr18:8206421-8206422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532897657	chr18:8206444-8206445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190149378	chr18:8206455-8206456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111356311	chr18:8206468-8206469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7229369	chr18:8206482-8206483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs549266306	chr18:8206515-8206516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115389294	chr18:8206578-8206579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538233247	chr18:8206636-8206637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570665478	chr18:8206652-8206653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113607949	chr18:8206662-8206663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571701518	chr18:8206746-8206747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7228273	chr18:8206809-8206810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140791199	chr18:8206853-8206854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554381419	chr18:8206854-8206855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73391950	chr18:8206866-8206867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs374282105	chr18:8206874-8206875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566783366	chr18:8206876-8206877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555236014	chr18:8206895-8206896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7228327	chr18:8206896-8206897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113058730	chr18:8206932-8206933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147508635	chr18:8206958-8206959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551683062	chr18:8206997-8206998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148588649	chr18:8207030-8207031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544706578	chr18:8207046-8207047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8170800-8225400	Weak transcription	Aorta	Aorta
2	chr18:8178000-8230000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:8178200-8212400	Weak transcription	Adipose Nuclei	Adipose
4	chr18:8178200-8216400	Weak transcription	Spleen	Spleen
5	chr18:8181400-8216800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:8181600-8212000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:8187400-8211800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr18:8191200-8288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr18:8191800-8211800	Weak transcription	Left Ventricle	heart
10	chr18:8194600-8225600	Weak transcription	Psoas Muscle	Psoas
11	chr18:8196800-8215000	Weak transcription	Thymus	Thymus
12	chr18:8199400-8225400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:8200600-8211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr18:8204400-8212000	Weak transcription	Fetal Heart	heart
15	chr18:8204400-8214600	Weak transcription	Fetal Stomach	stomach
16	chr18:8205200-8206000	Enhancers	Fetal Brain Female	brain
17	chr18:8205600-8225600	Weak transcription	Lung	lung
18	chr18:8205800-8206000	Enhancers	Fetal Brain Male	brain
19	chr18:8206800-8208800	Weak transcription	Right Ventricle	heart
20	chr18:8207400-8211800	Weak transcription	Hela-S3	cervix
21	chr18:8208600-8224200	Weak transcription	A549	lung
22	chr18:8208800-8209400	Enhancers	Right Ventricle	heart
23	chr18:8209200-8209400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr18:8209400-8211800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:8209800-8212200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr18:8210200-8210400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr18:8210200-8213000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr18:8210200-8214200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr18:8210400-8212800	Weak transcription	Fetal Thymus	thymus
30	chr18:8210400-8217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr18:8210600-8212200	Weak transcription	Liver	Liver

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