Variant report

Variant	esv3358662
Chromosome Location	chr14:20821460-20822033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20818052..20820048-chr14:20820385..20822938,2	K562	blood:
2	chr14:20820900..20823620-chr14:20880569..20882212,2	MCF-7	breast:
3	chr14:20809589..20811753-chr14:20819736..20822429,2	MCF-7	breast:
4	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129484	chromatin interactions
ENSG00000129566	chromatin interactions
ENSG00000259001	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564118723	chr14:20821463-20821464	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531629163	chr14:20821468-20821469	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs549778266	chr14:20821474-20821475	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs3093913	chr14:20821486-20821487	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529176650	chr14:20821487-20821488	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs547528543	chr14:20821500-20821501	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs3093914	chr14:20821518-20821519	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs565775518	chr14:20821523-20821524	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs3093915	chr14:20821544-20821545	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs186496347	chr14:20821556-20821557	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs539534636	chr14:20821584-20821585	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs557912293	chr14:20821590-20821591	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs3093916	chr14:20821593-20821594	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs148066504	chr14:20821644-20821645	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs3093917	chr14:20821648-20821649	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs537370469	chr14:20821670-20821671	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs142939848	chr14:20821681-20821682	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs370185544	chr14:20821682-20821683	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs3093918	chr14:20821684-20821685	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs10151004	chr14:20821694-20821695	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147339773	chr14:20821738-20821739	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs3093919	chr14:20821779-20821780	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs531712406	chr14:20821793-20821794	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs147983618	chr14:20821798-20821799	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs561946506	chr14:20821942-20821943	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs187485991	chr14:20821948-20821949	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs547419418	chr14:20821980-20821981	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs559475328	chr14:20821992-20821993	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs192857188	chr14:20822021-20822022	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20822600	Weak transcription	Gastric	stomach
2	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
3	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
4	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
5	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
6	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
9	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
23	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
32	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
33	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:20813400-20826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:20813400-20826400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr14:20813400-20826600	Strong transcription	Fetal Muscle Leg	muscle
41	chr14:20813400-20826600	Strong transcription	Left Ventricle	heart
42	chr14:20813400-20827200	Strong transcription	Brain Anterior Caudate	brain
43	chr14:20813400-20827400	Strong transcription	Brain Hippocampus Middle	brain
44	chr14:20813400-20827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:20813400-20827800	Strong transcription	Liver	Liver
46	chr14:20813400-20828600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:20813400-20829000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:20813600-20826200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:20813600-20826800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:20813600-20827000	Strong transcription	Hela-S3	cervix

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