Variant report

Variant	esv2515788
Chromosome Location	chr14:35550184-35551803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr14:35551135-35551275	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr14:35551341-35551387	ProgFib	skin:	n/a	n/a

No.	miRNA target gene	miRNA name	Chromosome Location
1	FAM177A1	hsa-miR-186-5p	chr14:35550483-35550504
2	FAM177A1	hsa-miR-186-5p	chr14:35551034-35551055
3	FAM177A1	hsa-miR-142-3p	chr14:35551080-35551101

Variant related genes	Relation type
FAM177A1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376689716	chr14:35550189-35550190	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180893734	chr14:35550204-35550205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543556093	chr14:35550207-35550208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375314225	chr14:35550228-35550229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56876270	chr14:35550231-35550232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs59610389	chr14:35550234-35550235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184960485	chr14:35550256-35550257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147726300	chr14:35550263-35550264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144487377	chr14:35550278-35550279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374844930	chr14:35550281-35550282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552492253	chr14:35550319-35550320	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201051719	chr14:35550326-35550327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369006342	chr14:35550357-35550358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148849349	chr14:35550364-35550365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190938140	chr14:35550375-35550376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374710644	chr14:35550387-35550388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143519021	chr14:35550428-35550429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139237361	chr14:35550465-35550466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373465295	chr14:35550467-35550468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562184528	chr14:35550468-35550469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199773964	chr14:35550471-35550472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139163092	chr14:35550501-35550502	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
23	rs537120671	chr14:35550517-35550518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537801469	chr14:35550524-35550525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184025379	chr14:35550528-35550529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570496776	chr14:35550546-35550547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144052189	chr14:35550559-35550560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112571405	chr14:35550686-35550687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79788636	chr14:35550700-35550701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573408624	chr14:35550721-35550722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543523630	chr14:35550780-35550781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187338760	chr14:35550827-35550828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191784433	chr14:35550834-35550835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555644005	chr14:35550869-35550870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371523743	chr14:35550895-35550896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559661562	chr14:35550922-35550923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376880814	chr14:35550926-35550927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543530405	chr14:35550944-35550945	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182873307	chr14:35550985-35550986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145922727	chr14:35550987-35550988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545437062	chr14:35551000-35551001	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28678092	chr14:35551052-35551053	Weak transcription Strong transcription	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528340315	chr14:35551086-35551087	Weak transcription Strong transcription	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
44	rs201152661	chr14:35551155-35551156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56660327	chr14:35551156-35551157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398099289	chr14:35551161-35551162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187209561	chr14:35551174-35551175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538396691	chr14:35551201-35551202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs3186771	chr14:35551263-35551264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530652431	chr14:35551272-35551273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Lung cancer	21569311	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
2	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
3	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
5	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:35520200-35550800	Weak transcription	NHLF	lung
7	chr14:35521000-35559400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:35526600-35552400	Weak transcription	Brain Substantia Nigra	brain
9	chr14:35528200-35552200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:35528200-35559400	Weak transcription	Colonic Mucosa	Colon
11	chr14:35528600-35552400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:35528600-35552800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:35528800-35563200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr14:35529000-35552000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:35529400-35555800	Weak transcription	Aorta	Aorta
16	chr14:35529400-35590200	Weak transcription	Esophagus	oesophagus
17	chr14:35530400-35550600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr14:35530600-35550200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr14:35530600-35552400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:35530600-35563600	Weak transcription	Small Intestine	intestine
21	chr14:35530600-35590000	Weak transcription	Fetal Heart	heart
22	chr14:35530800-35552000	Weak transcription	Hela-S3	cervix
23	chr14:35531400-35550800	Weak transcription	HUVEC	blood vessel
24	chr14:35531400-35552600	Weak transcription	Pancreas	Pancrea
25	chr14:35531400-35563400	Weak transcription	Gastric	stomach
26	chr14:35538200-35581000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr14:35538400-35550800	Weak transcription	Dnd41	blood
28	chr14:35538400-35552600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:35538400-35559800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:35539000-35552400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:35542000-35589600	Weak transcription	Fetal Brain Male	brain
32	chr14:35542400-35554000	Weak transcription	Psoas Muscle	Psoas
33	chr14:35542600-35552600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:35543000-35552600	Weak transcription	Thymus	Thymus
35	chr14:35543200-35580800	Weak transcription	K562	blood
36	chr14:35544200-35552600	Weak transcription	Fetal Stomach	stomach
37	chr14:35544600-35550600	Weak transcription	A549	lung
38	chr14:35544600-35554400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:35545600-35559800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:35545600-35564600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr14:35545600-35568600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:35545600-35569800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:35545600-35580800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:35545600-35582800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:35545600-35590000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:35545800-35550200	Strong transcription	Primary T cells from cord blood	blood
47	chr14:35545800-35553800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr14:35545800-35566400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:35546000-35558600	Strong transcription	Left Ventricle	heart
50	chr14:35546000-35568000	Strong transcription	Osteobl	bone

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