Variant report

Variant	esv3430065
Chromosome Location	chr14:71534649-71536547
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189018640	chr14:71534690-71534691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201050202	chr14:71534694-71534695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372541909	chr14:71534785-71534786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182506474	chr14:71534805-71534806	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563519470	chr14:71534806-71534807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs61990417	chr14:71534826-71534827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570665573	chr14:71534872-71534873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549531247	chr14:71534877-71534878	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs575075516	chr14:71534898-71534899	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs61990418	chr14:71534963-71534964	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556276172	chr14:71535044-71535045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568023227	chr14:71535067-71535068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139925946	chr14:71535079-71535080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117531197	chr14:71535099-71535100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572887509	chr14:71535115-71535116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149727698	chr14:71535118-71535119	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566036233	chr14:71535119-71535120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370482317	chr14:71535120-71535121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199632043	chr14:71535138-71535139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187089249	chr14:71535151-71535152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191053559	chr14:71535202-71535203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544490526	chr14:71535212-71535213	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs8010435	chr14:71535243-71535244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139802603	chr14:71535304-71535305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375921556	chr14:71535308-71535309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373964832	chr14:71535309-71535310	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536434884	chr14:71535312-71535313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190260219	chr14:71535339-71535340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182473485	chr14:71535353-71535354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554711263	chr14:71535391-71535392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542517776	chr14:71535421-71535422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560222235	chr14:71535428-71535429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34542576	chr14:71535493-71535494	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs140384112	chr14:71535556-71535557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145552483	chr14:71535587-71535588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148493460	chr14:71535649-71535650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531395025	chr14:71535651-71535652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549733533	chr14:71535683-71535684	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567894508	chr14:71535684-71535685	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142652281	chr14:71535722-71535723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546579742	chr14:71535749-71535750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563675504	chr14:71535775-71535776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566575494	chr14:71535783-71535784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374945747	chr14:71535831-71535832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558872196	chr14:71535842-71535843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75886538	chr14:71535937-71535938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577560280	chr14:71536000-71536001	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545347723	chr14:71536023-71536024	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151038107	chr14:71536025-71536026	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75742492	chr14:71536027-71536028	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71495800-71546200	Weak transcription	Stomach Mucosa	stomach
2	chr14:71497000-71554200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:71499600-71540800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr14:71510200-71538200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:71511600-71540800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:71511600-71541000	Weak transcription	Pancreas	Pancrea
7	chr14:71518200-71544000	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:71525800-71539800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:71527200-71536200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:71527400-71540000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr14:71527600-71540000	Weak transcription	Brain Angular Gyrus	brain
12	chr14:71528000-71541200	Weak transcription	Small Intestine	intestine
13	chr14:71528000-71543200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:71528200-71539000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:71528400-71535600	Weak transcription	Colonic Mucosa	Colon
16	chr14:71528400-71539800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:71528400-71540800	Weak transcription	HSMMtube	muscle
18	chr14:71528400-71541200	Weak transcription	Right Ventricle	heart
19	chr14:71528600-71535600	Weak transcription	Left Ventricle	heart
20	chr14:71528600-71536200	Weak transcription	Fetal Kidney	kidney
21	chr14:71528600-71536200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr14:71528600-71536400	Weak transcription	Fetal Brain Male	brain
23	chr14:71528600-71536400	Weak transcription	NHLF	lung
24	chr14:71528600-71536600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:71528600-71537600	Weak transcription	Gastric	stomach
26	chr14:71528600-71539800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:71528600-71539800	Weak transcription	Placenta	Placenta
28	chr14:71528600-71539800	Weak transcription	Lung	lung
29	chr14:71528600-71540000	Weak transcription	Fetal Thymus	thymus
30	chr14:71528600-71540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:71528600-71540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:71528600-71540200	Weak transcription	Aorta	Aorta
33	chr14:71528600-71540200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr14:71528600-71540200	Weak transcription	Esophagus	oesophagus
35	chr14:71528600-71540800	Weak transcription	Colon Smooth Muscle	Colon
36	chr14:71528600-71540800	Weak transcription	A549	lung
37	chr14:71528600-71543200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:71528800-71540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:71528800-71540200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:71528800-71540200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:71528800-71540200	Weak transcription	Hela-S3	cervix
42	chr14:71528800-71540200	Weak transcription	HepG2	liver
43	chr14:71529000-71536200	Weak transcription	NH-A	brain
44	chr14:71529000-71539600	Weak transcription	Fetal Stomach	stomach
45	chr14:71529000-71539600	Weak transcription	HUVEC	blood vessel
46	chr14:71529000-71539800	Weak transcription	Spleen	Spleen
47	chr14:71529000-71540200	Weak transcription	Thymus	Thymus
48	chr14:71529000-71543000	Weak transcription	Psoas Muscle	Psoas
49	chr14:71529200-71540200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr14:71529600-71538200	Weak transcription	Fetal Heart	heart

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