Variant report

Variant	esv2763868
Chromosome Location	chr5:179618177-179632676
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179628027..179629201-chr5:179755361..179756060,4	K562	blood:
2	chr5:179632444..179634807-chr5:179634859..179636582,2	MCF-7	breast:
3	chr5:179627973..179628851-chr5:179897510..179898199,3	K562	blood:
4	chr5:179588724..179589352-chr5:179627753..179628617,2	MCF-7	breast:
5	chr5:179622475..179625183-chr5:179637307..179639559,2	K562	blood:
6	chr5:179627950..179628952-chr5:179742140..179743347,3	K562	blood:
7	chr5:179553629..179554257-chr5:179627968..179628886,2	MCF-7	breast:
8	chr5:179628533..179631132-chr5:179635388..179637884,2	MCF-7	breast:
9	chr5:179625670..179627645-chr5:179628111..179630511,2	K562	blood:
10	chr15:69451307..69452229-chr5:179628094..179628959,2	MCF-7	breast:
11	chr5:179630473..179631992-chr5:179632453..179634602,2	MCF-7	breast:
12	chr5:179630473..179631992-chr5:179632453..179634602,2	MCF-7	breast:
13	chr5:179630335..179632956-chr5:179634345..179636199,2	K562	blood:
14	chr5:179628568..179631712-chr5:179635028..179639037,3	K562	blood:
15	chr5:179628585..179630274-chr5:179634253..179636310,2	MCF-7	breast:
16	chr5:179628129..179628639-chr5:179720355..179721073,2	MCF-7	breast:
17	chr5:179625670..179627645-chr5:179628111..179630511,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146090	chromatin interactions

Extended variants
information (count: 665 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554472103	chr5:179618180-179618181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs180725329	chr5:179618181-179618182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560954875	chr5:179618214-179618215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6867780	chr5:179618281-179618282	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373351928	chr5:179618284-179618285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35378832	chr5:179618364-179618365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200152979	chr5:179618374-179618375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539847132	chr5:179618379-179618380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564854435	chr5:179618380-179618381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34848576	chr5:179618387-179618388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13157590	chr5:179618388-179618389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs13158703	chr5:179618395-179618396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531000612	chr5:179618396-179618397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190490358	chr5:179618397-179618398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565110152	chr5:179618418-179618419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13157604	chr5:179618420-179618421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567425018	chr5:179618426-179618427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377535092	chr5:179618429-179618430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535079033	chr5:179618439-179618440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553111270	chr5:179618442-179618443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367640402	chr5:179618449-179618450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538586627	chr5:179618450-179618451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557203294	chr5:179618482-179618483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563087785	chr5:179618502-179618503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370930665	chr5:179618506-179618507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554755680	chr5:179618514-179618515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75049160	chr5:179618515-179618516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542484404	chr5:179618518-179618519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540287661	chr5:179618539-179618540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6868288	chr5:179618540-179618541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532109546	chr5:179618546-179618547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6882357	chr5:179618547-179618548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374706128	chr5:179618566-179618567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62406148	chr5:179618578-179618579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs531063740	chr5:179618589-179618590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549175199	chr5:179618591-179618592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561114728	chr5:179618603-179618604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547781879	chr5:179618608-179618609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547051889	chr5:179618617-179618618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145172068	chr5:179618626-179618627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138995204	chr5:179618635-179618636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550937874	chr5:179618636-179618637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62406149	chr5:179618646-179618647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13158047	chr5:179618652-179618653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554819221	chr5:179618706-179618707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182312814	chr5:179618748-179618749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186241933	chr5:179618750-179618751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142150411	chr5:179618789-179618790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573779568	chr5:179618847-179618848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11249680	chr5:179618873-179618874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

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
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
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179606800-179618800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:179618200-179624400	Weak transcription	Fetal Brain Female	brain
3	chr5:179618800-179619400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:179619000-179619200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:179620600-179635400	Weak transcription	Right Atrium	heart
6	chr5:179621000-179622600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr5:179621600-179622400	Enhancers	HepG2	liver
8	chr5:179621800-179622200	Enhancers	Spleen	Spleen
9	chr5:179621800-179622400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr5:179622000-179622400	Enhancers	Pancreas	Pancrea
11	chr5:179622400-179625000	Weak transcription	Pancreas	Pancrea
12	chr5:179622600-179624200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179624200-179624400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:179624200-179625000	Enhancers	Fetal Brain Male	brain
15	chr5:179624400-179624800	Enhancers	Fetal Brain Female	brain
16	chr5:179624400-179624800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr5:179625000-179625200	Active TSS	Pancreas	Pancrea
18	chr5:179628000-179628800	Enhancers	Spleen	Spleen
19	chr5:179630400-179631800	Enhancers	Hela-S3	cervix
20	chr5:179631800-179635200	Weak transcription	Hela-S3	cervix
21	chr5:179632400-179633000	Enhancers	Fetal Brain Male	brain

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