Variant report

Variant	esv3360982
Chromosome Location	chr5:15448952-15453750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:15451280-15451430	WERI-Rb-1	eye:	n/a	n/a
2	HEY1	chr5:15452012-15452325	K562	blood:	n/a	n/a
3	MAX	chr5:15448942-15449142	NB4	blood:	n/a	n/a
4	POLR2A	chr5:15452029-15452337	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:15450987-15451040	A549	lung:	n/a	n/a
6	POLR2A	chr5:15451790-15451903	GM12878	blood:	n/a	n/a
7	POLR2A	chr5:15452085-15452243	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:15451747-15451914	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:15451594-15452351	GM12878	blood:	n/a	n/a
10	POLR2A	chr5:15451430-15451878	A549	lung:	n/a	n/a
11	POLR2A	chr5:15451361-15451406	A549	lung:	n/a	n/a
12	POLR2A	chr5:15451778-15451931	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:15449877-15449946	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr5:15451084-15451141	A549	lung:	n/a	n/a
15	POLR2A	chr5:15451763-15451931	GM12891	blood:	n/a	n/a
16	REST	chr5:15451578-15451760	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr5:15451568-15451824	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr5:15451533-15451823	PFSK-1	brain:	n/a	n/a
19	REST	chr5:15451548-15451783	SK-N-SH	brain:	n/a	n/a
20	REST	chr5:15451506-15451839	U87	brain:	n/a	n/a
21	REST	chr5:15451506-15451817	U87	brain:	n/a	n/a
22	REST	chr5:15451617-15451737	Hela-S3	cervix:	n/a	n/a
23	REST	chr5:15451491-15451869	MCF-7	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL7-5	chr5:15452105-15452449	NONHSAT100581
2	lnc-FBXL7-5	chr5:15452544-15452662	NONHSAT100581

No data

Variant related genes	Relation type
ENSG00000248699	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:219 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570557224	chr5:15448959-15448960	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184286357	chr5:15449055-15449056	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528191976	chr5:15449067-15449068	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569253369	chr5:15449103-15449104	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs536203146	chr5:15449119-15449120	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373863436	chr5:15449175-15449176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367839010	chr5:15449185-15449186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568061897	chr5:15449193-15449194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150561653	chr5:15449243-15449244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534439667	chr5:15449262-15449263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559173207	chr5:15449273-15449274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78122428	chr5:15449332-15449333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544310650	chr5:15449361-15449362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562398302	chr5:15449376-15449377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189032729	chr5:15449396-15449397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541416685	chr5:15449456-15449457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560064489	chr5:15449596-15449597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527562258	chr5:15449599-15449600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554817846	chr5:15449658-15449659	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551990215	chr5:15449674-15449675	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181898953	chr5:15449678-15449679	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531374819	chr5:15449689-15449690	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185291659	chr5:15449691-15449692	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190220010	chr5:15449704-15449705	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536689372	chr5:15449707-15449708	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548597446	chr5:15449723-15449724	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567198281	chr5:15449732-15449733	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78325622	chr5:15449737-15449738	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116372263	chr5:15449748-15449749	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371319965	chr5:15449750-15449751	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374600892	chr5:15449777-15449778	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537240968	chr5:15449789-15449790	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538013898	chr5:15449877-15449878	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs368676715	chr5:15449941-15449942	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs113147245	chr5:15449988-15449989	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs541451362	chr5:15450021-15450022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76481035	chr5:15450027-15450028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558774890	chr5:15450054-15450055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577222709	chr5:15450055-15450056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571671262	chr5:15450078-15450079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112156814	chr5:15450080-15450081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541525494	chr5:15450084-15450085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9312889	chr5:15450106-15450107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531546099	chr5:15450109-15450110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543245467	chr5:15450118-15450119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563047759	chr5:15450138-15450139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553060177	chr5:15450142-15450143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530197633	chr5:15450143-15450144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147382926	chr5:15450164-15450165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566887748	chr5:15450202-15450203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15447600-15451600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:15448200-15451200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:15448400-15452200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:15449200-15450200	Enhancers	Brain Hippocampus Middle	brain
5	chr5:15449600-15450000	Active TSS	Brain Cingulate Gyrus	brain
6	chr5:15449600-15452400	Enhancers	Stomach Smooth Muscle	stomach
7	chr5:15450600-15451800	Weak transcription	Left Ventricle	heart
8	chr5:15451000-15453800	Enhancers	Colon Smooth Muscle	Colon
9	chr5:15451200-15451600	Enhancers	Esophagus	oesophagus
10	chr5:15451200-15452000	Enhancers	Ovary	ovary
11	chr5:15451200-15453200	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:15451400-15451600	ZNF genes & repeats	Gastric	stomach
13	chr5:15451600-15451800	ZNF genes & repeats	Esophagus	oesophagus
14	chr5:15451600-15453000	Enhancers	Fetal Heart	heart
15	chr5:15451600-15453400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:15451800-15452400	Enhancers	Left Ventricle	heart
17	chr5:15451800-15453000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:15451800-15453000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:15451800-15453800	Enhancers	Fetal Stomach	stomach
20	chr5:15452000-15453000	Weak transcription	Ovary	ovary
21	chr5:15452200-15452600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:15452200-15453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:15452400-15452600	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr5:15452600-15452800	Enhancers	Stomach Smooth Muscle	stomach
25	chr5:15452600-15453000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:15452800-15453000	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr5:15452800-15453200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:15453000-15453200	Enhancers	Ovary	ovary
29	chr5:15453000-15453800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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