Variant report

Variant	esv1928439
Chromosome Location	chr14:31182388-31182820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr14:31182556-31182697	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31181109..31183147-chr14:31184171..31186327,2	K562	blood:

Variant related genes	Relation type
SCFD1	TF binding region
ENSG00000092108	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545107322	chr14:31182394-31182395	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550470006	chr14:31182423-31182424	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560041088	chr14:31182504-31182505	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571181029	chr14:31182539-31182540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190497228	chr14:31182570-31182571	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs576630753	chr14:31182583-31182584	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35586791	chr14:31182631-31182632	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs17364127	chr14:31182672-31182673	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs543765973	chr14:31182684-31182685	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs140117506	chr14:31182696-31182697	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs181017050	chr14:31182726-31182727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117497472	chr14:31182752-31182753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs150315113	chr14:31182801-31182802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
2	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
3	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
6	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
8	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
10	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
15	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:31162200-31192000	Weak transcription	A549	lung
21	chr14:31162200-31199200	Strong transcription	HepG2	liver
22	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:31162600-31194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:31162800-31183200	Weak transcription	Fetal Heart	heart
25	chr14:31164400-31195800	Weak transcription	Brain Substantia Nigra	brain
26	chr14:31165000-31208200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:31166000-31204200	Weak transcription	Colonic Mucosa	Colon
28	chr14:31166000-31205600	Weak transcription	Thymus	Thymus
29	chr14:31166400-31214200	Weak transcription	Pancreas	Pancrea
30	chr14:31167000-31183600	Weak transcription	HUVEC	blood vessel
31	chr14:31167800-31196000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:31168000-31195800	Weak transcription	Lung	lung
33	chr14:31168200-31185600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31168200-31186000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:31168200-31186400	Weak transcription	Fetal Stomach	stomach
36	chr14:31168200-31188000	Weak transcription	Brain Germinal Matrix	brain
37	chr14:31168200-31195000	Weak transcription	K562	blood
38	chr14:31168200-31195800	Weak transcription	Spleen	Spleen
39	chr14:31168200-31205800	Weak transcription	Esophagus	oesophagus
40	chr14:31168200-31206000	Weak transcription	Gastric	stomach
41	chr14:31168200-31208600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:31168400-31196000	Weak transcription	Psoas Muscle	Psoas
43	chr14:31168600-31185200	Weak transcription	Brain Anterior Caudate	brain
44	chr14:31169600-31195000	Weak transcription	Fetal Thymus	thymus
45	chr14:31170200-31195800	Weak transcription	Brain Hippocampus Middle	brain
46	chr14:31170400-31188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:31170400-31195600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:31171600-31205800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr14:31171800-31184000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr14:31172200-31195800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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