Variant report

Variant	esv3364587
Chromosome Location	chr14:31167385-31167934
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	chr14:31158569..31160575-chr14:31165651..31167745,2	MCF-7	breast:
2	chr14:31164973..31167877-chr14:31174409..31177773,3	K562	blood:

Variant related genes	Relation type
ENSG00000092108	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75386021	chr14:31167388-31167389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542247640	chr14:31167430-31167431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11627421	chr14:31167434-31167435	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs530729602	chr14:31167578-31167579	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79673959	chr14:31167640-31167641	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549881623	chr14:31167709-31167710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs137931074	chr14:31167793-31167794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532178956	chr14:31167794-31167795	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142414522	chr14:31167834-31167835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547249347	chr14:31167847-31167848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs544106370	chr14:31167873-31167874	Weak transcription Strong transcription Genic enhancers	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:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31096000-31167400	Weak transcription	Gastric	stomach
2	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
3	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
5	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr14:31124400-31171400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:31125200-31170000	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:31133800-31197400	Weak transcription	Aorta	Aorta
10	chr14:31141600-31167400	Weak transcription	Psoas Muscle	Psoas
11	chr14:31153400-31169000	Weak transcription	Brain Hippocampus Middle	brain
12	chr14:31153600-31167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:31153600-31174400	Weak transcription	NHDF-Ad	bronchial
14	chr14:31153600-31198800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31153800-31187400	Weak transcription	Fetal Brain Female	brain
16	chr14:31160000-31167400	Weak transcription	Esophagus	oesophagus
17	chr14:31160000-31206600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:31160000-31207200	Weak transcription	Right Ventricle	heart
19	chr14:31160200-31172800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:31160200-31176000	Strong transcription	HSMM	muscle
21	chr14:31160200-31178800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:31160400-31167600	Weak transcription	Fetal Stomach	stomach
23	chr14:31160400-31168200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:31160400-31205000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:31160600-31192400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:31160800-31167600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:31160800-31197400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr14:31160800-31198600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:31160800-31206200	Weak transcription	Small Intestine	intestine
30	chr14:31161000-31178600	Weak transcription	Stomach Mucosa	stomach
31	chr14:31161000-31180800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:31161000-31195600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:31161000-31195800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:31161600-31197000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr14:31161800-31199000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:31162000-31181000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr14:31162000-31192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr14:31162200-31192000	Weak transcription	A549	lung
39	chr14:31162200-31199200	Strong transcription	HepG2	liver
40	chr14:31162400-31204000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:31162600-31194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr14:31162800-31183200	Weak transcription	Fetal Heart	heart
43	chr14:31163400-31179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:31163600-31168200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr14:31163600-31168200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:31163600-31168200	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:31163600-31169400	Strong transcription	Primary B cells from cord blood	blood
48	chr14:31163600-31170400	Strong transcription	Liver	Liver
49	chr14:31163600-31171400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:31163600-31171600	Strong transcription	Primary T helper cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links