Variant report

Variant	esv20349
Chromosome Location	chr5:111915807-111944317
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111930631..111932232-chr5:111935331..111936839,2	K562	blood:
2	chr5:111886884..111887988-chr5:111940509..111941323,3	K562	blood:
3	chr5:111871115..111873160-chr5:111927827..111929771,2	K562	blood:
4	chr5:111916636..111918197-chr5:111918834..111921338,2	K562	blood:
5	chr5:111930631..111932232-chr5:111935331..111936839,2	K562	blood:
6	chr5:111938998..111941379-chr5:111945188..111946889,2	MCF-7	breast:
7	chr5:111916636..111918197-chr5:111918834..111921338,2	K562	blood:

No data

Extended variants
information (count: 1177 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:1177 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572745480	chr5:111915820-111915821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370087681	chr5:111915871-111915872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6897239	chr5:111915880-111915881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs7445902	chr5:111915902-111915903	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567639400	chr5:111915903-111915904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564933783	chr5:111915919-111915920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72795807	chr5:111915933-111915934	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs116012966	chr5:111915937-111915938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369734475	chr5:111915941-111915942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375012571	chr5:111915955-111915956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34424943	chr5:111915991-111915992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145848249	chr5:111916024-111916025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548149568	chr5:111916032-111916033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567671245	chr5:111916044-111916045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571762240	chr5:111916071-111916072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6861523	chr5:111916089-111916090	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549869966	chr5:111916116-111916117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13170674	chr5:111916117-111916118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs538743629	chr5:111916122-111916123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs56927888	chr5:111916131-111916132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572530166	chr5:111916154-111916155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367771969	chr5:111916167-111916168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191704808	chr5:111916171-111916172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575998569	chr5:111916181-111916182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542885075	chr5:111916221-111916222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564873319	chr5:111916228-111916229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577042817	chr5:111916230-111916231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541114570	chr5:111916233-111916234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376429188	chr5:111916243-111916244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs116347769	chr5:111916256-111916257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529820202	chr5:111916260-111916261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7446738	chr5:111916294-111916295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563393333	chr5:111916298-111916299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530703907	chr5:111916307-111916308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549810731	chr5:111916308-111916309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554871069	chr5:111916331-111916332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145059414	chr5:111916338-111916339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538781091	chr5:111916411-111916412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147562198	chr5:111916441-111916442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142108935	chr5:111916448-111916449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184054878	chr5:111916456-111916457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs375373414	chr5:111916457-111916458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145826780	chr5:111916470-111916471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151195914	chr5:111916473-111916474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs9885446	chr5:111916511-111916512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs558622137	chr5:111916530-111916531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576875230	chr5:111916565-111916566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541147398	chr5:111916573-111916574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs71579191	chr5:111916613-111916614	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs140266092	chr5:111916619-111916620	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111915400-111916000	Enhancers	Fetal Heart	heart
2	chr5:111915400-111917000	Enhancers	HSMMtube	muscle
3	chr5:111915800-111919200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:111916000-111916400	Weak transcription	Fetal Heart	heart
5	chr5:111916400-111918600	Enhancers	Fetal Heart	heart
6	chr5:111917000-111920200	Weak transcription	HSMMtube	muscle
7	chr5:111917400-111917600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:111917400-111917800	Bivalent Enhancer	Placenta	Placenta
9	chr5:111917600-111918000	Enhancers	K562	blood
10	chr5:111918000-111921400	Weak transcription	K562	blood
11	chr5:111918200-111918400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr5:111918400-111918600	Enhancers	Lung	lung
13	chr5:111918600-111920000	Weak transcription	Fetal Heart	heart
14	chr5:111919200-111919600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:111919600-111922600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:111920000-111920800	Enhancers	Placenta	Placenta
17	chr5:111920000-111921200	Enhancers	Fetal Heart	heart
18	chr5:111920600-111920800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:111920600-111920800	Enhancers	HSMMtube	muscle
20	chr5:111920800-111921800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:111921200-111922600	Weak transcription	Fetal Heart	heart
22	chr5:111921400-111921800	Enhancers	K562	blood
23	chr5:111921800-111922600	Flanking Active TSS	K562	blood
24	chr5:111921800-111922800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:111921800-111922800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:111921800-111922800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:111922000-111922200	Enhancers	HepG2	liver
28	chr5:111922000-111922800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:111922000-111922800	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:111922200-111922800	Enhancers	H1 Cell Line	embryonic stem cell
31	chr5:111922200-111922800	Flanking Active TSS	HepG2	liver
32	chr5:111922200-111923000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr5:111922400-111922800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:111922400-111922800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr5:111922600-111922800	Enhancers	Fetal Heart	heart
36	chr5:111922600-111923000	Enhancers	K562	blood
37	chr5:111922800-111925800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:111927800-111929600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr5:111928400-111928800	Enhancers	Brain Germinal Matrix	brain
40	chr5:111928400-111928800	Enhancers	Brain Substantia Nigra	brain
41	chr5:111928600-111930800	Enhancers	Fetal Stomach	stomach
42	chr5:111928800-111929200	Weak transcription	Brain Germinal Matrix	brain
43	chr5:111928800-111929200	Weak transcription	Brain Substantia Nigra	brain
44	chr5:111928800-111929200	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:111929200-111929600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr5:111929200-111929800	Enhancers	Brain Germinal Matrix	brain
47	chr5:111929200-111930200	Enhancers	Brain Substantia Nigra	brain
48	chr5:111929200-111930600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:111929400-111929600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:111929400-111929800	Enhancers	Brain Anterior Caudate	brain

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