Variant report

Variant	esv3333084
Chromosome Location	chr14:39818154-39818618
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371205837	chr14:39818161-39818162	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374881055	chr14:39818180-39818181	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs576272817	chr14:39818187-39818188	Weak transcription Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375145428	chr14:39818221-39818222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7156249	chr14:39818222-39818223	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs370162387	chr14:39818232-39818233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182282330	chr14:39818236-39818237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563405259	chr14:39818264-39818265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377737135	chr14:39818282-39818283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531919260	chr14:39818300-39818301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552050071	chr14:39818301-39818302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187320068	chr14:39818322-39818323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74048735	chr14:39818338-39818339	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs527932189	chr14:39818348-39818349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548092152	chr14:39818393-39818394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4393482	chr14:39818432-39818433	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536687205	chr14:39818439-39818440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549987123	chr14:39818442-39818443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7156628	chr14:39818452-39818453	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs567023497	chr14:39818468-39818469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538439280	chr14:39818489-39818490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571147023	chr14:39818504-39818505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534046058	chr14:39818513-39818514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555874370	chr14:39818519-39818520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558287386	chr14:39818526-39818527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571910467	chr14:39818575-39818576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572822802	chr14:39818579-39818580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6571923	chr14:39818591-39818592	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs554862922	chr14:39818596-39818597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574334913	chr14:39818603-39818604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8018486	chr14:39818616-39818617	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:59)

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
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
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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:39767200-39833800	Weak transcription	Small Intestine	intestine
6	chr14:39770600-39819800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
8	chr14:39786600-39828600	Weak transcription	Spleen	Spleen
9	chr14:39786800-39823000	Strong transcription	Liver	Liver
10	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr14:39793000-39822200	Weak transcription	Fetal Lung	lung
12	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
13	chr14:39796400-39828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
15	chr14:39802000-39835600	Weak transcription	Esophagus	oesophagus
16	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:39802600-39835400	Weak transcription	Psoas Muscle	Psoas
18	chr14:39802800-39822000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:39802800-39828400	Weak transcription	Ovary	ovary
20	chr14:39802800-39828400	Weak transcription	Pancreas	Pancrea
21	chr14:39802800-39828600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr14:39802800-39835400	Weak transcription	Gastric	stomach
23	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
24	chr14:39803000-39835400	Weak transcription	Right Ventricle	heart
25	chr14:39803000-39845800	Weak transcription	NHEK	skin
26	chr14:39803200-39824600	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:39803200-39833000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
29	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:39803400-39843800	Weak transcription	HMEC	breast
32	chr14:39807000-39824400	Weak transcription	NH-A	brain
33	chr14:39807400-39836000	Weak transcription	Brain Anterior Caudate	brain
34	chr14:39808400-39819000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:39808400-39828400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:39808400-39828800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:39808600-39828400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr14:39808600-39828800	Weak transcription	Fetal Heart	heart
40	chr14:39808800-39822200	Weak transcription	A549	lung
41	chr14:39809600-39822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr14:39809600-39832800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:39809800-39828800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:39810000-39835200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:39811800-39823200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr14:39812200-39818600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39812200-39819800	Strong transcription	Fetal Intestine Large	intestine
48	chr14:39812200-39820000	Strong transcription	HepG2	liver
49	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
50	chr14:39812400-39832800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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