Variant report

Variant	nsv976325
Chromosome Location	chr14:31612711-31613306
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	chr14:31612683..31614896-chr14:31619951..31622680,2	MCF-7	breast:
2	chr14:31590905..31593026-chr14:31610871..31613579,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538272752	chr14:31612739-31612740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556250146	chr14:31612774-31612775	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117246056	chr14:31612775-31612776	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12879008	chr14:31612799-31612800	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs554418213	chr14:31612827-31612828	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142779653	chr14:31612917-31612918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543242808	chr14:31612967-31612968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117982782	chr14:31612975-31612976	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146083197	chr14:31613021-31613022	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs377182098	chr14:31613026-31613027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs543425013	chr14:31613102-31613103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs564677765	chr14:31613109-31613110	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182284538	chr14:31613110-31613111	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114091356	chr14:31613156-31613157	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535693642	chr14:31613251-31613252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559019970	chr14:31613252-31613253	Weak transcription Strong transcription	Chromatin interactive region	1 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
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

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
7	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr14:31567000-31651200	Strong transcription	Dnd41	blood
11	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
15	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr14:31597000-31616200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:31598200-31633200	Strong transcription	HepG2	liver
25	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr14:31598400-31627200	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:31598400-31633200	Strong transcription	Liver	Liver
29	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:31598600-31613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:31598600-31613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:31598600-31620000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:31598600-31631000	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:31598600-31632000	Weak transcription	Fetal Brain Male	brain
35	chr14:31598600-31633000	Weak transcription	Stomach Mucosa	stomach
36	chr14:31598600-31635400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr14:31598600-31648400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:31598600-31648400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:31598600-31648600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:31598600-31649000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:31598600-31649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr14:31598800-31615600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:31598800-31633200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr14:31599600-31616200	Strong transcription	NHDF-Ad	bronchial
45	chr14:31599800-31616400	Strong transcription	Adipose Nuclei	Adipose
46	chr14:31600200-31616800	Strong transcription	GM12878-XiMat	blood
47	chr14:31600600-31616400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr14:31600600-31634400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:31600600-31649800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:31600800-31623600	Strong transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links