Variant report

Variant	esv3450048
Chromosome Location	chr14:35438763-35439006
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	chr14:35430162..35434482-chr14:35434976..35439153,5	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559310295	chr14:35438770-35438771	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543581928	chr14:35438773-35438774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556910930	chr14:35438792-35438793	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2273156	chr14:35438799-35438800	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs2273157	chr14:35438836-35438837	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs559422947	chr14:35438933-35438934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528428398	chr14:35438991-35438992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541859472	chr14:35438992-35438993	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534288498	chr14:35438996-35438997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35401000-35440400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:35411800-35450000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:35413400-35449600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr14:35417400-35449400	Weak transcription	Dnd41	blood
5	chr14:35417800-35439200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:35418000-35450600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:35418200-35446000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:35418800-35449600	Weak transcription	Placenta	Placenta
9	chr14:35419000-35445000	Weak transcription	Pancreas	Pancrea
10	chr14:35419600-35449600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr14:35419800-35449600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:35420000-35440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:35420000-35441200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:35420000-35450000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:35420000-35450000	Weak transcription	Small Intestine	intestine
16	chr14:35420400-35450200	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:35420800-35440600	Weak transcription	HSMMtube	muscle
18	chr14:35420800-35440600	Weak transcription	NHDF-Ad	bronchial
19	chr14:35421200-35440600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:35421200-35449600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr14:35421200-35449600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:35421800-35450600	Weak transcription	Esophagus	oesophagus
23	chr14:35422000-35450000	Weak transcription	Brain Substantia Nigra	brain
24	chr14:35423800-35443800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:35423800-35450000	Weak transcription	Colonic Mucosa	Colon
26	chr14:35424000-35440600	Weak transcription	NHEK	skin
27	chr14:35424000-35441000	Weak transcription	NHLF	lung
28	chr14:35424000-35449600	Weak transcription	Brain Germinal Matrix	brain
29	chr14:35424000-35449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr14:35425200-35441000	Weak transcription	Psoas Muscle	Psoas
31	chr14:35425800-35450000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:35425800-35450000	Weak transcription	Right Ventricle	heart
33	chr14:35425800-35450600	Weak transcription	Ovary	ovary
34	chr14:35426000-35442200	Weak transcription	Brain Anterior Caudate	brain
35	chr14:35426000-35449600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:35426000-35449800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:35426000-35450000	Weak transcription	Lung	lung
38	chr14:35426000-35450200	Weak transcription	Aorta	Aorta
39	chr14:35426000-35450400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:35426000-35450800	Weak transcription	Gastric	stomach
41	chr14:35426200-35449600	Weak transcription	Fetal Brain Female	brain
42	chr14:35426400-35441200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:35427200-35449800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:35427400-35450000	Weak transcription	Fetal Kidney	kidney
45	chr14:35427400-35450000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:35430000-35450200	Weak transcription	Stomach Mucosa	stomach
47	chr14:35431600-35440000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:35431600-35440600	Weak transcription	HSMM	muscle
49	chr14:35431800-35442400	Weak transcription	Fetal Intestine Small	intestine
50	chr14:35432400-35438800	Strong transcription	Primary T cells fromperipheralblood	blood

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