Variant report

Variant	esv3416639
Chromosome Location	chr14:32418082-32418502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:32418462..32421329-chr14:32545887..32548430,2	MCF-7	breast:
2	chr14:32412347..32415225-chr14:32417011..32419996,3	MCF-7	breast:
3	chr14:32415369..32417109-chr14:32417144..32419896,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258655	chromatin interactions
ENSG00000258474	chromatin interactions
ENSG00000100852	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1278934	chr14:32418082-32418083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184484088	chr14:32418107-32418108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112015647	chr14:32418139-32418140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs35787164	chr14:32418141-32418142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs398099271	chr14:32418144-32418145	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs1278935	chr14:32418155-32418156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72679241	chr14:32418160-32418161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535609134	chr14:32418165-32418166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs531492062	chr14:32418171-32418172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533093250	chr14:32418189-32418190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs1278936	chr14:32418225-32418226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1278937	chr14:32418245-32418246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551830884	chr14:32418249-32418250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs186867488	chr14:32418265-32418266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372963491	chr14:32418274-32418275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs549607771	chr14:32418335-32418336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61549350	chr14:32418338-32418339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs56030078	chr14:32418398-32418399	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146529889	chr14:32418410-32418411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191697957	chr14:32418441-32418442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs1278938	chr14:32418452-32418453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553504492	chr14:32418474-32418475	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
Esophageal cancer	20955586	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
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32407400-32419800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:32412200-32418600	Weak transcription	NHDF-Ad	bronchial
3	chr14:32412400-32419600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:32412800-32419800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr14:32413000-32419000	Weak transcription	Small Intestine	intestine
6	chr14:32413000-32419600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:32413400-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:32413600-32420600	Enhancers	HMEC	breast
9	chr14:32413800-32418800	Weak transcription	Fetal Lung	lung
10	chr14:32413800-32420800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:32414000-32419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:32414200-32419200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:32414400-32419400	Weak transcription	Brain Germinal Matrix	brain
14	chr14:32414600-32418800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:32414600-32419400	Weak transcription	Fetal Muscle Leg	muscle
16	chr14:32414600-32419600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr14:32414600-32419600	Weak transcription	Adipose Nuclei	Adipose
18	chr14:32414600-32419600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr14:32414600-32419600	Weak transcription	Left Ventricle	heart
20	chr14:32414600-32419600	Weak transcription	Right Atrium	heart
21	chr14:32414600-32419800	Weak transcription	Gastric	stomach
22	chr14:32414600-32419800	Weak transcription	Lung	lung
23	chr14:32414600-32419800	Weak transcription	Psoas Muscle	Psoas
24	chr14:32414600-32420000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr14:32414800-32420000	Weak transcription	Pancreas	Pancrea
26	chr14:32415200-32418600	Weak transcription	Hela-S3	cervix
27	chr14:32415200-32419600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:32415400-32419000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:32415600-32418800	Weak transcription	Stomach Mucosa	stomach
30	chr14:32415600-32419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:32415800-32418800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:32415800-32418800	Enhancers	A549	lung
33	chr14:32415800-32419800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:32416000-32419200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr14:32416200-32418200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:32416600-32418800	Weak transcription	Fetal Intestine Large	intestine
37	chr14:32416600-32419000	Weak transcription	Fetal Intestine Small	intestine
38	chr14:32416800-32420600	Enhancers	NHEK	skin
39	chr14:32417200-32418800	Weak transcription	K562	blood
40	chr14:32417400-32418800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:32417400-32418800	Weak transcription	Fetal Stomach	stomach
42	chr14:32417600-32418600	Enhancers	Fetal Heart	heart
43	chr14:32417600-32418800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:32417600-32418800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:32417600-32419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr14:32417600-32419200	Weak transcription	Fetal Brain Female	brain
47	chr14:32417600-32419800	Weak transcription	Right Ventricle	heart
48	chr14:32417800-32418800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:32417800-32419000	Weak transcription	Fetal Brain Male	brain
50	chr14:32418000-32418400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links