Variant report

Variant	nsv826966
Chromosome Location	chr14:64999517-65000172
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	POLR2A	chr14:64999748-64999804	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:64968046..64971889-chr14:64998208..65000322,4	MCF-7	breast:
2	chr14:64971457..64973242-chr14:64998934..65001552,2	K562	blood:
3	chr14:64995191..64998249-chr14:64998660..65002269,3	K562	blood:

Variant related genes	Relation type
HSPA2	TF binding region
ENSG00000126804	chromatin interactions
ENSG00000089775	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199596387	chr14:64999517-64999518	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs138896385	chr14:64999574-64999575	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs111255167	chr14:64999587-64999588	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532061108	chr14:64999648-64999649	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549242332	chr14:64999670-64999671	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs551978666	chr14:64999713-64999714	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114938151	chr14:64999737-64999738	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs533847153	chr14:64999758-64999759	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs193140478	chr14:64999785-64999786	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185722919	chr14:64999843-64999844	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12385918	chr14:64999945-64999946	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs12385910	chr14:64999970-64999971	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs535900016	chr14:65000017-65000018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs1542313	chr14:65000038-65000039	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs571291361	chr14:65000055-65000056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577546768	chr14:65000064-65000065	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs376050497	chr14:65000072-65000073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533563347	chr14:65000079-65000080	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs117755417	chr14:65000101-65000102	Weak transcription	Chromatin interactive region	2 gene(s)	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
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
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
Intracranial arachnoid cysts	20187927	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64974800-65006000	Weak transcription	Ovary	ovary
2	chr14:64976000-65006000	Weak transcription	Brain Germinal Matrix	brain
3	chr14:64978200-65006000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr14:64979200-65005800	Weak transcription	Brain Anterior Caudate	brain
5	chr14:64982000-65005800	Weak transcription	Fetal Heart	heart
6	chr14:64987800-65005000	Weak transcription	Pancreas	Pancrea
7	chr14:64989200-65006000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:64989800-65005800	Weak transcription	Right Ventricle	heart
9	chr14:64990200-64999600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr14:64990200-65002400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:64990200-65003400	Weak transcription	HSMMtube	muscle
12	chr14:64990200-65003400	Weak transcription	NHLF	lung
13	chr14:64990200-65005800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:64990200-65005800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:64990200-65005800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:64990200-65006000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr14:64990200-65006000	Weak transcription	Aorta	Aorta
18	chr14:64990200-65006000	Weak transcription	Fetal Muscle Leg	muscle
19	chr14:64990200-65006000	Weak transcription	Left Ventricle	heart
20	chr14:64990200-65006200	Weak transcription	Small Intestine	intestine
21	chr14:64990400-65003600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:64990400-65005800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:64990400-65005800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:64990400-65005800	Weak transcription	Adipose Nuclei	Adipose
25	chr14:64990400-65005800	Weak transcription	Fetal Kidney	kidney
26	chr14:64990400-65005800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr14:64990400-65005800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:64990400-65006000	Weak transcription	Fetal Intestine Large	intestine
29	chr14:64990600-65005800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr14:64990800-65005800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:64991000-65005600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr14:64991000-65005600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr14:64991400-65003200	Weak transcription	NHDF-Ad	bronchial
34	chr14:64992000-65005800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr14:64992200-65001000	Weak transcription	Primary B cells from cord blood	blood
36	chr14:64992200-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:64992400-65003400	Weak transcription	A549	lung
38	chr14:64992400-65003600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:64993200-65003400	Weak transcription	Hela-S3	cervix
40	chr14:64993400-65005800	Weak transcription	NH-A	brain
41	chr14:64993400-65005800	Weak transcription	NHEK	skin
42	chr14:64993600-65006000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:64993800-64999800	Weak transcription	Fetal Thymus	thymus
44	chr14:64993800-65003000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:64993800-65003200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:64993800-65003200	Weak transcription	Placenta	Placenta
47	chr14:64993800-65005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:64993800-65005600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr14:64993800-65005800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr14:64993800-65005800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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