Variant report

Variant	esv3399879
Chromosome Location	chr14:81647816-81648237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81638146..81640079-chr14:81645451..81648200,3	MCF-7	breast:
2	chr14:81642022..81644044-chr14:81645949..81648164,2	MCF-7	breast:
3	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
4	chr14:81643515..81648900-chr14:81684307..81689030,7	K562	blood:
5	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
6	chr14:81647401..81650665-chr14:81685451..81688014,6	MCF-7	breast:
7	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577615294	chr14:81647823-81647824	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182028073	chr14:81647824-81647825	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373966076	chr14:81647845-81647846	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs553591854	chr14:81647852-81647853	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs8007841	chr14:81647878-81647879	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs542683041	chr14:81647924-81647925	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184632153	chr14:81647940-81647941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560843814	chr14:81647946-81647947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548129631	chr14:81647967-81647968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs112975173	chr14:81647977-81647978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566337061	chr14:81647984-81647985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543026010	chr14:81648046-81648047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs34000349	chr14:81648127-81648128	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564794215	chr14:81648129-81648130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34998288	chr14:81648137-81648138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs189521161	chr14:81648138-81648139	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547328087	chr14:81648143-81648144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs533581505	chr14:81648147-81648148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs553701155	chr14:81648161-81648162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs548627578	chr14:81648166-81648167	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570060739	chr14:81648226-81648227	Weak transcription Strong transcription 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
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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
3	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
4	chr14:81637200-81648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
7	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:81637200-81652600	Weak transcription	NHEK	skin
11	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
12	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
14	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
16	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
17	chr14:81637400-81648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:81637400-81649800	Weak transcription	HepG2	liver
19	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
20	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
21	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:81637400-81656800	Weak transcription	HMEC	breast
27	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
28	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:81637600-81650000	Weak transcription	Hela-S3	cervix
30	chr14:81637600-81652400	Weak transcription	A549	lung
31	chr14:81638200-81648200	Weak transcription	HUVEC	blood vessel
32	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
33	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
37	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:81643800-81649000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81644000-81649000	Weak transcription	Aorta	Aorta
42	chr14:81644000-81655400	Strong transcription	Dnd41	blood
43	chr14:81644200-81648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:81644200-81648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:81644200-81649000	Weak transcription	NHLF	lung
46	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:81644400-81648400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:81644400-81648600	Weak transcription	Ovary	ovary
50	chr14:81644400-81648600	Weak transcription	Rectal Mucosa Donor 31	rectum

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