Variant report

Variant	esv3418627
Chromosome Location	chr8:121229471-121231569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373749083	chr8:121229485-121229486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542422968	chr8:121229572-121229573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563702296	chr8:121229632-121229633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531262839	chr8:121229655-121229656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552578677	chr8:121229658-121229659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368264545	chr8:121229693-121229694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115165973	chr8:121229702-121229703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112245348	chr8:121229721-121229722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552374998	chr8:121229799-121229800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546549842	chr8:121229829-121229830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570654680	chr8:121229855-121229856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189100490	chr8:121229902-121229903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34854285	chr8:121229914-121229915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193011583	chr8:121229975-121229976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35784860	chr8:121230001-121230002	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs185667490	chr8:121230022-121230023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568945001	chr8:121230042-121230043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs539765439	chr8:121230078-121230079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558078338	chr8:121230125-121230126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189326398	chr8:121230164-121230165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369174530	chr8:121230165-121230166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202126400	chr8:121230196-121230197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180822793	chr8:121230246-121230247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533778126	chr8:121230282-121230283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9643142	chr8:121230363-121230364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573800531	chr8:121230411-121230412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543949718	chr8:121230486-121230487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557566332	chr8:121230490-121230491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34633309	chr8:121230500-121230501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71571670	chr8:121230509-121230510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575739661	chr8:121230510-121230511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546332411	chr8:121230554-121230555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552195859	chr8:121230694-121230695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528725298	chr8:121230715-121230716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540252499	chr8:121230740-121230741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113880153	chr8:121230748-121230749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529420216	chr8:121230785-121230786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7387094	chr8:121230787-121230788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs188566281	chr8:121230913-121230914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7387373	chr8:121230950-121230951	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551564526	chr8:121230976-121230977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115459841	chr8:121230998-121230999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75360672	chr8:121231012-121231013	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555431006	chr8:121231015-121231016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117791513	chr8:121231016-121231017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35535346	chr8:121231024-121231025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80302102	chr8:121231035-121231036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559639110	chr8:121231137-121231138	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555988393	chr8:121231138-121231139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148759041	chr8:121231152-121231153	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:142)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121214200-121253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:121215200-121260600	Weak transcription	Fetal Intestine Small	intestine
3	chr8:121217200-121233000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:121217200-121261600	Weak transcription	Fetal Intestine Large	intestine
5	chr8:121217400-121233000	Weak transcription	NHDF-Ad	bronchial
6	chr8:121217400-121234400	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:121217800-121233800	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:121218000-121233000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:121219000-121230400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:121222200-121230800	Weak transcription	Aorta	Aorta
11	chr8:121222200-121255200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:121223200-121230800	Weak transcription	Fetal Lung	lung
13	chr8:121224400-121233000	Weak transcription	Adipose Nuclei	Adipose
14	chr8:121224800-121243800	Weak transcription	Placenta	Placenta
15	chr8:121226200-121229600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:121229000-121230200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:121229000-121230200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:121229200-121230000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:121229200-121230000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:121229200-121230200	Enhancers	Osteobl	bone
21	chr8:121229400-121229600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:121229400-121231000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:121229400-121231400	Weak transcription	Fetal Stomach	stomach
24	chr8:121229400-121231400	Weak transcription	Ovary	ovary
25	chr8:121229600-121249000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:121230000-121233000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:121230200-121233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:121230200-121233000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:121230200-121233000	Weak transcription	Osteobl	bone
30	chr8:121230800-121231200	Enhancers	Aorta	Aorta
31	chr8:121230800-121232000	Strong transcription	Fetal Lung	lung
32	chr8:121231000-121232000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr8:121231200-121238800	Weak transcription	Aorta	Aorta
34	chr8:121231400-121232000	Strong transcription	Fetal Stomach	stomach
35	chr8:121231400-121232000	Enhancers	Ovary	ovary

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