Variant report

Variant	esv2533003
Chromosome Location	chr14:63887004-63888568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63881053..63883432-chr14:63886290..63888118,2	K562	blood:
2	chr14:63886647..63888599-chr14:64009349..64011541,2	K562	blood:
3	chr14:63884387..63889474-chr14:63890982..63895061,6	MCF-7	breast:
4	chr14:63876148..63878726-chr14:63887830..63889791,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154001	chromatin interactions
ENSG00000261242	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543692931	chr14:63887017-63887018	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368151674	chr14:63887021-63887022	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563583557	chr14:63887036-63887037	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577249259	chr14:63887061-63887062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs17225133	chr14:63887113-63887114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs17101158	chr14:63887142-63887143	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs57182759	chr14:63887150-63887151	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145243596	chr14:63887165-63887166	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs113378342	chr14:63887188-63887189	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs561100689	chr14:63887206-63887207	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530242967	chr14:63887253-63887254	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs529298634	chr14:63887264-63887265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs550004758	chr14:63887310-63887311	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs74592988	chr14:63887331-63887332	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141209338	chr14:63887332-63887333	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552135419	chr14:63887342-63887343	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565556831	chr14:63887374-63887375	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs77610860	chr14:63887406-63887407	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs554369684	chr14:63887420-63887421	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs574642702	chr14:63887491-63887492	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs537962507	chr14:63887496-63887497	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143517892	chr14:63887503-63887504	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557238975	chr14:63887533-63887534	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs577985137	chr14:63887542-63887543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs554353314	chr14:63887545-63887546	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577185179	chr14:63887562-63887563	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545810989	chr14:63887572-63887573	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192342327	chr14:63887577-63887578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs574204493	chr14:63887587-63887588	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565246724	chr14:63887595-63887596	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368783705	chr14:63887627-63887628	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs572354249	chr14:63887628-63887629	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12880604	chr14:63887684-63887685	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371487318	chr14:63887728-63887729	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs113543027	chr14:63887735-63887736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112616673	chr14:63887778-63887779	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs56297942	chr14:63887797-63887798	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs567583485	chr14:63887803-63887804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs71414492	chr14:63887805-63887806	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs71120261	chr14:63887806-63887807	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs541476525	chr14:63887826-63887827	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs182773103	chr14:63887870-63887871	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs551112724	chr14:63887880-63887881	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530183201	chr14:63887911-63887912	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147972915	chr14:63887920-63887921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78546486	chr14:63888009-63888010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141629750	chr14:63888043-63888044	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112037942	chr14:63888102-63888103	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138472362	chr14:63888128-63888129	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs534330220	chr14:63888137-63888138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Malignant peripheral nerve sheath tumor	18522746	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
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63837800-63902200	Weak transcription	Small Intestine	intestine
2	chr14:63843200-63898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:63849000-63888000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:63851200-63902400	Weak transcription	Right Ventricle	heart
5	chr14:63851200-63903600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:63852600-63899000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr14:63854000-63893400	Weak transcription	Fetal Brain Male	brain
9	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:63858000-63890200	Weak transcription	Pancreas	Pancrea
11	chr14:63858400-63900000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:63858600-63891400	Weak transcription	Osteobl	bone
13	chr14:63859800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:63860000-63888000	Weak transcription	HUVEC	blood vessel
15	chr14:63862000-63902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:63862200-63897800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr14:63862200-63902600	Weak transcription	Brain Angular Gyrus	brain
18	chr14:63862200-63903600	Weak transcription	HMEC	breast
19	chr14:63862400-63887800	Weak transcription	Thymus	Thymus
20	chr14:63862400-63894600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:63863800-63888000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr14:63864200-63890200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr14:63865800-63887800	Weak transcription	Fetal Brain Female	brain
24	chr14:63869000-63888800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:63870400-63888800	Weak transcription	Psoas Muscle	Psoas
26	chr14:63871800-63900000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:63872000-63898200	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:63872200-63901200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:63872400-63888200	Weak transcription	Brain Anterior Caudate	brain
30	chr14:63872600-63899200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:63873800-63890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:63874000-63892200	Weak transcription	Fetal Kidney	kidney
33	chr14:63877400-63894400	Weak transcription	Spleen	Spleen
34	chr14:63877400-63903200	Weak transcription	Aorta	Aorta
35	chr14:63877800-63901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:63878000-63887800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:63878000-63888200	Weak transcription	Fetal Heart	heart
38	chr14:63878000-63889600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:63878600-63899000	Weak transcription	Fetal Stomach	stomach
40	chr14:63879000-63887800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:63879000-63888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:63879200-63887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr14:63879200-63891400	Weak transcription	Esophagus	oesophagus
44	chr14:63879400-63894600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:63879400-63894800	Weak transcription	Ovary	ovary
46	chr14:63880000-63887200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:63880800-63888000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:63880800-63888400	Weak transcription	HSMMtube	muscle
49	chr14:63880800-63902000	Weak transcription	NHLF	lung
50	chr14:63880800-63902600	Weak transcription	Lung	lung

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