Variant report

Variant	esv3356058
Chromosome Location	chr5:178919746-178924044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:178594236..178594749-chr5:178920299..178921066,2	K562	blood:
2	chr5:177708522..177710701-chr5:178921263..178923252,2	K562	blood:
3	chr5:178912346..178914624-chr5:178918648..178920688,2	K562	blood:
4	chr5:178593773..178595177-chr5:178920715..178921686,6	MCF-7	breast:
5	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
6	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
7	chr5:178219841..178220793-chr5:178920740..178921735,2	MCF-7	breast:
8	chr5:178219922..178220838-chr5:178920668..178921270,2	MCF-7	breast:
9	chr5:178923732..178926017-chr5:178977562..178979960,2	MCF-7	breast:
10	chr5:178921207..178921791-chr5:179095335..179095939,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000176783	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146729747	chr5:178919768-178919769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528146050	chr5:178919783-178919784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79176577	chr5:178919789-178919790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571287895	chr5:178919800-178919801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367622177	chr5:178919813-178919814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372162173	chr5:178919852-178919853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552049487	chr5:178919894-178919895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570293478	chr5:178919918-178919919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537356167	chr5:178919920-178919921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555491517	chr5:178919922-178919923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76495957	chr5:178919947-178919948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534929727	chr5:178919950-178919951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553037197	chr5:178919971-178919972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140324898	chr5:178920012-178920013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183534463	chr5:178920014-178920015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557094124	chr5:178920047-178920048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187875159	chr5:178920052-178920053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542945842	chr5:178920063-178920064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145693089	chr5:178920095-178920096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117907322	chr5:178920099-178920100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs151051777	chr5:178920122-178920123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564963256	chr5:178920125-178920126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192262698	chr5:178920127-178920128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186328565	chr5:178920132-178920133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368499261	chr5:178920140-178920141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111273526	chr5:178920144-178920145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146641304	chr5:178920202-178920203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140984676	chr5:178920280-178920281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113130901	chr5:178920367-178920368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554300830	chr5:178920368-178920369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572611208	chr5:178920386-178920387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577512302	chr5:178920423-178920424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372294349	chr5:178920426-178920427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553314012	chr5:178920434-178920435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546454473	chr5:178920446-178920447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114988639	chr5:178920483-178920484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557276641	chr5:178920519-178920520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575547243	chr5:178920612-178920613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79704043	chr5:178920623-178920624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375893634	chr5:178920660-178920661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115635042	chr5:178920666-178920667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369743045	chr5:178920694-178920695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79877996	chr5:178920741-178920742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540394108	chr5:178920811-178920812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79011961	chr5:178920812-178920813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13159787	chr5:178920852-178920853	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200715366	chr5:178920879-178920880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572463616	chr5:178920944-178920945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566631844	chr5:178920962-178920963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372982696	chr5:178920968-178920969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178913800-178935200	Weak transcription	Right Atrium	heart
2	chr5:178914200-178921800	Weak transcription	Fetal Kidney	kidney
3	chr5:178918200-178921800	Weak transcription	Pancreas	Pancrea
4	chr5:178918200-178921800	Weak transcription	Spleen	Spleen
5	chr5:178918400-178925400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:178918600-178921800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:178921600-178922200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:178921800-178922000	Bivalent/Poised TSS	Fetal Lung	lung
9	chr5:178921800-178922000	Enhancers	Spleen	Spleen
10	chr5:178921800-178922200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:178921800-178922200	ZNF genes & repeats	Fetal Kidney	kidney
12	chr5:178921800-178922200	ZNF genes & repeats	Pancreas	Pancrea
13	chr5:178922000-178922200	Bivalent Enhancer	Fetal Brain Male	brain
14	chr5:178922000-178922200	Enhancers	Gastric	stomach
15	chr5:178922000-178922400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:178922000-178923000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:178922000-178925200	Weak transcription	Spleen	Spleen
18	chr5:178922200-178931400	Weak transcription	Pancreas	Pancrea
19	chr5:178922600-178922800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:178923000-178923200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:178923000-178923600	Enhancers	Fetal Brain Female	brain
22	chr5:178923600-178923800	Bivalent Enhancer	HepG2	liver
23	chr5:178923600-178924800	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links