Variant report

Variant	esv3338937
Chromosome Location	chr14:70146137-70146677
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	chr14:70145783..70147481-chr14:70150839..70153157,2	K562	blood:
2	chr14:70145323..70149322-chr14:70149877..70152985,4	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146588227	chr14:70146156-70146157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567955633	chr14:70146165-70146166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188138244	chr14:70146179-70146180	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4902745	chr14:70146198-70146199	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111398813	chr14:70146214-70146215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528806511	chr14:70146248-70146249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148748540	chr14:70146250-70146251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8010776	chr14:70146269-70146270	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs78447181	chr14:70146309-70146310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75688469	chr14:70146311-70146312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78065123	chr14:70146313-70146314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539763903	chr14:70146324-70146325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544536358	chr14:70146364-70146365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557936710	chr14:70146367-70146368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551920363	chr14:70146375-70146376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369820143	chr14:70146392-70146393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375181870	chr14:70146424-70146425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550828318	chr14:70146437-70146438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs61094129	chr14:70146490-70146491	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557955497	chr14:70146542-70146543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142390380	chr14:70146562-70146563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554558037	chr14:70146595-70146596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376774337	chr14:70146624-70146625	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534606960	chr14:70146661-70146662	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553124516	chr14:70146662-70146663	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151300299	chr14:70146665-70146666	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545068084	chr14:70146668-70146669	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70130000-70148800	Weak transcription	NHEK	skin
2	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:70137200-70148800	Weak transcription	K562	blood
6	chr14:70138200-70149000	Weak transcription	HMEC	breast
7	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
10	chr14:70140600-70152200	Weak transcription	NHLF	lung
11	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:70141200-70146800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:70141200-70146800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:70141200-70146800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr14:70141200-70148800	Weak transcription	Esophagus	oesophagus
17	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:70141600-70148200	Weak transcription	Spleen	Spleen
19	chr14:70141600-70149000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr14:70141600-70149400	Weak transcription	Fetal Stomach	stomach
21	chr14:70141600-70149800	Weak transcription	Gastric	stomach
22	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
23	chr14:70142000-70146800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:70142000-70146800	Weak transcription	Osteobl	bone
25	chr14:70142000-70149000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:70142200-70146800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:70142200-70147000	Weak transcription	Aorta	Aorta
28	chr14:70142200-70147000	Weak transcription	Ovary	ovary
29	chr14:70142200-70148600	Weak transcription	Stomach Mucosa	stomach
30	chr14:70142200-70148800	Weak transcription	Brain Substantia Nigra	brain
31	chr14:70142200-70149200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr14:70142400-70146800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:70142400-70146800	Weak transcription	Brain Anterior Caudate	brain
34	chr14:70142400-70148800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:70142400-70149000	Weak transcription	Adipose Nuclei	Adipose
36	chr14:70142600-70146800	Weak transcription	Fetal Muscle Leg	muscle
37	chr14:70142600-70146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr14:70142600-70149000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:70142800-70146800	Weak transcription	Lung	lung
40	chr14:70142800-70146800	Weak transcription	Right Ventricle	heart
41	chr14:70142800-70148800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:70142800-70148800	Weak transcription	Brain Angular Gyrus	brain
43	chr14:70142800-70149800	Weak transcription	Thymus	Thymus
44	chr14:70143000-70146600	Weak transcription	Colon Smooth Muscle	Colon
45	chr14:70143000-70146800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr14:70143000-70146800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:70143000-70146800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr14:70143000-70146800	Weak transcription	Small Intestine	intestine
49	chr14:70143000-70147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:70143000-70148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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