Variant report

Variant	esv18915
Chromosome Location	chr8:119214373-119214987
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2451164	chr8:119214374-119214375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2451163	chr8:119214396-119214397	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111725764	chr8:119214403-119214404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs66702886	chr8:119214412-119214413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2514746	chr8:119214425-119214426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546294222	chr8:119214429-119214430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561494612	chr8:119214437-119214438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528948482	chr8:119214495-119214496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550539151	chr8:119214497-119214498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2514942	chr8:119214523-119214524	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151211216	chr8:119214555-119214556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181435784	chr8:119214565-119214566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574020140	chr8:119214589-119214590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148501107	chr8:119214607-119214608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542882969	chr8:119214659-119214660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11562801	chr8:119214670-119214671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535064177	chr8:119214778-119214779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553393528	chr8:119214783-119214784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575020313	chr8:119214797-119214798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571279480	chr8:119214812-119214813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2514747	chr8:119214829-119214830	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146504031	chr8:119214866-119214867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17507313	chr8:119214868-119214869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2514948	chr8:119214945-119214946	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs116106891	chr8:119214949-119214950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2514949	chr8:119214984-119214985	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:138)

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
Chronic myeloid leukemia	21384125	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	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
Oral squamous cell carcinoma	21853135	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
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119200800-119218800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:119203800-119215200	Weak transcription	Liver	Liver
3	chr8:119206400-119214400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:119208400-119214600	Weak transcription	Lung	lung
5	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
6	chr8:119208600-119214600	Weak transcription	Left Ventricle	heart
7	chr8:119208600-119214600	Weak transcription	Right Atrium	heart
8	chr8:119208600-119217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:119209200-119219000	Weak transcription	NHEK	skin
10	chr8:119209600-119214400	Weak transcription	Ovary	ovary
11	chr8:119209600-119219000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:119209800-119214600	Weak transcription	NHLF	lung
13	chr8:119210000-119214400	Weak transcription	HSMM	muscle
14	chr8:119210200-119214400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:119210400-119216400	Weak transcription	Aorta	Aorta
16	chr8:119211800-119221600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:119213000-119214600	Weak transcription	Psoas Muscle	Psoas
18	chr8:119213200-119214600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:119213200-119215800	Enhancers	Right Ventricle	heart
20	chr8:119213400-119216600	Enhancers	Fetal Heart	heart
21	chr8:119213600-119214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:119213600-119214600	Weak transcription	Fetal Thymus	thymus
23	chr8:119213600-119223600	Weak transcription	Spleen	Spleen
24	chr8:119213800-119215400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:119213800-119215400	Enhancers	HUVEC	blood vessel
26	chr8:119213800-119215400	Enhancers	NHDF-Ad	bronchial
27	chr8:119213800-119215800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr8:119214000-119215200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:119214000-119215200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:119214000-119215200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:119214000-119215200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:119214000-119215200	Enhancers	NH-A	brain
33	chr8:119214000-119215400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:119214000-119215400	Enhancers	Adipose Nuclei	Adipose
35	chr8:119214000-119215400	Enhancers	HSMMtube	muscle
36	chr8:119214000-119215400	Enhancers	Osteobl	bone
37	chr8:119214200-119214800	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr8:119214200-119215000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr8:119214200-119215000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:119214200-119215000	Enhancers	Fetal Muscle Leg	muscle
41	chr8:119214200-119215200	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr8:119214200-119215200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr8:119214200-119215600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:119214200-119216400	Enhancers	Fetal Lung	lung
45	chr8:119214400-119214800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:119214400-119214800	Enhancers	Fetal Muscle Trunk	muscle
47	chr8:119214400-119215000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:119214400-119215000	Enhancers	Ovary	ovary
49	chr8:119214400-119215000	Enhancers	HSMM	muscle
50	chr8:119214400-119215200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links