Variant report

Variant	esv3525713
Chromosome Location	chr4:3827104-3829102
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3822546..3824664-chr4:3827698..3829669,2	K562	blood:
2	chr4:3813333..3816584-chr4:3828376..3830899,3	MCF-7	breast:
3	chr4:3483725..3485778-chr4:3827881..3829780,2	MCF-7	breast:
4	chr4:3825945..3828484-chr4:3829762..3832273,2	K562	blood:
5	chr4:3826762..3828884-chr4:3861993..3864451,2	MCF-7	breast:
6	chr4:3784486..3786605-chr4:3826007..3828204,2	MCF-7	breast:
7	chr4:3781470..3783733-chr4:3828633..3831117,2	MCF-7	breast:
8	chr4:3688266..3689130-chr4:3828986..3829489,2	MCF-7	breast:
9	chr4:3783567..3786061-chr4:3828338..3831241,3	MCF-7	breast:
10	chr4:3827867..3829717-chr4:3860178..3862948,2	MCF-7	breast:
11	chr4:3824171..3826051-chr4:3826222..3829148,2	K562	blood:
12	chr4:3827600..3830833-chr4:3837890..3839545,3	MCF-7	breast:
13	chr4:3821388..3825394-chr4:3826472..3830558,5	MCF-7	breast:
14	chr4:3811417..3813091-chr4:3826463..3828582,2	MCF-7	breast:
15	chr4:3829000..3829903-chr4:3870469..3871233,2	MCF-7	breast:

No data

Extended variants
information (count: 217 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:217 , 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	rs540994056	chr4:3827144-3827145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142627918	chr4:3827156-3827157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578148034	chr4:3827157-3827158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544104550	chr4:3827158-3827159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79892844	chr4:3827160-3827161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs67439477	chr4:3827174-3827175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147632308	chr4:3827175-3827176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549191390	chr4:3827190-3827191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144838892	chr4:3827193-3827194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60735689	chr4:3827194-3827195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398092124	chr4:3827197-3827198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs202174874	chr4:3827198-3827199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200875353	chr4:3827214-3827215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559402570	chr4:3827239-3827240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs56260921	chr4:3827258-3827259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551332197	chr4:3827272-3827273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190055673	chr4:3827275-3827276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571626176	chr4:3827278-3827279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4072093	chr4:3827281-3827282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181349664	chr4:3827290-3827291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185333938	chr4:3827291-3827292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73082732	chr4:3827297-3827298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546207703	chr4:3827298-3827299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189855106	chr4:3827300-3827301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572144988	chr4:3827340-3827341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534712832	chr4:3827341-3827342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557427299	chr4:3827351-3827352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577555803	chr4:3827372-3827373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373847384	chr4:3827373-3827374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4072092	chr4:3827428-3827429	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs533885456	chr4:3827435-3827436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142282943	chr4:3827443-3827444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115312984	chr4:3827466-3827467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4072091	chr4:3827471-3827472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528526339	chr4:3827473-3827474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147678351	chr4:3827485-3827486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565285940	chr4:3827486-3827487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140982566	chr4:3827489-3827490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182130432	chr4:3827490-3827491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150226676	chr4:3827514-3827515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs55931100	chr4:3827518-3827519	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs186452634	chr4:3827525-3827526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191941114	chr4:3827540-3827541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545389642	chr4:3827543-3827544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565889502	chr4:3827600-3827601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534853720	chr4:3827601-3827602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28738892	chr4:3827631-3827632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183904695	chr4:3827639-3827640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537035188	chr4:3827687-3827688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs138827584	chr4:3827693-3827694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3821400-3828400	Enhancers	HepG2	liver
2	chr4:3821600-3829400	Weak transcription	A549	lung
3	chr4:3823800-3832400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:3824000-3828600	Weak transcription	Brain Germinal Matrix	brain
5	chr4:3824200-3828600	Weak transcription	Spleen	Spleen
6	chr4:3824400-3828600	Weak transcription	Pancreas	Pancrea
7	chr4:3824400-3831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3825800-3827200	Weak transcription	Liver	Liver
9	chr4:3825800-3828600	Weak transcription	Ovary	ovary
10	chr4:3827000-3828600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:3827200-3831400	Enhancers	Liver	Liver
12	chr4:3828000-3828800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr4:3828200-3828400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:3828200-3830200	Enhancers	Right Ventricle	heart
15	chr4:3828400-3829400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
16	chr4:3828400-3830200	Flanking Active TSS	HepG2	liver
17	chr4:3828400-3833400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr4:3828600-3828800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3828600-3829000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr4:3828600-3829000	Enhancers	Stomach Smooth Muscle	stomach
21	chr4:3828600-3829400	Bivalent Enhancer	Placenta	Placenta
22	chr4:3828600-3829600	Enhancers	Brain Hippocampus Middle	brain
23	chr4:3828600-3829800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr4:3828600-3830200	Enhancers	Lung	lung
25	chr4:3828600-3830200	Enhancers	Ovary	ovary
26	chr4:3828600-3830400	Enhancers	Spleen	Spleen
27	chr4:3828600-3832200	Enhancers	Fetal Brain Male	brain
28	chr4:3828600-3833400	Enhancers	Brain Germinal Matrix	brain
29	chr4:3828600-3833800	Enhancers	Pancreas	Pancrea
30	chr4:3828800-3829400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:3828800-3829800	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:3828800-3830600	Enhancers	Fetal Muscle Leg	muscle
33	chr4:3829000-3829400	Enhancers	Rectal Smooth Muscle	rectum
34	chr4:3829000-3829600	Enhancers	Brain Anterior Caudate	brain
35	chr4:3829000-3829600	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr4:3829000-3829800	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr4:3829000-3830000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:3829000-3830000	Enhancers	Adipose Nuclei	Adipose
39	chr4:3829000-3830000	Enhancers	Left Ventricle	heart
40	chr4:3829000-3830000	Enhancers	Right Atrium	heart
41	chr4:3829000-3830000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr4:3829000-3830200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:3829000-3830400	Enhancers	Duodenum Mucosa	Duodenum

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