Variant report

Variant	esv1808917
Chromosome Location	chr4:3466277-3475334
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:3464468..3466347-chr4:3532849..3534407,2	MCF-7	breast:
2	chr4:3287264..3290154-chr4:3470213..3472155,2	MCF-7	breast:
3	chr4:3231157..3234122-chr4:3467560..3470032,2	MCF-7	breast:
4	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:
5	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
6	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
7	chr4:3471602..3475518-chr4:3476351..3479966,4	K562	blood:
8	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
9	chr4:3320217..3323147-chr4:3474744..3477107,2	MCF-7	breast:
10	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
11	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:
12	chr4:3075047..3077442-chr4:3472520..3475162,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159788	chromatin interactions
ENSG00000110619	chromatin interactions
ENSG00000163956	chromatin interactions
ENSG00000197386	chromatin interactions
ENSG00000251075	chromatin interactions

Extended variants
information (count: 611 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10016794	chr4:3466333-3466334	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555583432	chr4:3466350-3466351	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572295138	chr4:3466357-3466358	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73792097	chr4:3466374-3466375	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs558123343	chr4:3466380-3466381	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10032725	chr4:3466428-3466429	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147835136	chr4:3466443-3466444	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs563159824	chr4:3466447-3466448	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10019149	chr4:3466472-3466473	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs4476554	chr4:3466478-3466479	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs4282114	chr4:3466486-3466487	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs10027913	chr4:3466514-3466515	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559500706	chr4:3466568-3466569	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4577517	chr4:3466570-3466571	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs528709229	chr4:3466584-3466585	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs187086457	chr4:3466621-3466622	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191565597	chr4:3466636-3466637	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531129801	chr4:3466655-3466656	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550915558	chr4:3466658-3466659	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567584158	chr4:3466661-3466662	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536727448	chr4:3466662-3466663	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547162662	chr4:3466683-3466684	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114126206	chr4:3466684-3466685	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs182367227	chr4:3466744-3466745	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577931707	chr4:3466745-3466746	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141399316	chr4:3466818-3466819	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186605977	chr4:3466866-3466867	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536961501	chr4:3466917-3466918	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs556903731	chr4:3466920-3466921	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370224000	chr4:3466946-3466947	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs542705677	chr4:3466963-3466964	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs193107785	chr4:3466977-3466978	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78694208	chr4:3467002-3467003	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs115908547	chr4:3467039-3467040	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs565150590	chr4:3467076-3467077	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs534306496	chr4:3467079-3467080	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531217226	chr4:3467088-3467089	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551018542	chr4:3467095-3467096	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs147011735	chr4:3467158-3467159	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs377388888	chr4:3467166-3467167	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs530079593	chr4:3467176-3467177	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185638799	chr4:3467180-3467181	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566925886	chr4:3467282-3467283	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs539158228	chr4:3467297-3467298	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374760723	chr4:3467305-3467306	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs551568711	chr4:3467320-3467321	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs188552642	chr4:3467321-3467322	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs10019922	chr4:3467338-3467339	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs372908449	chr4:3467361-3467362	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs193061998	chr4:3467367-3467368	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Lung cancer	18438408	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
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3464600-3466400	Active TSS	HSMM	muscle
2	chr4:3464600-3466800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
3	chr4:3464600-3467400	Active TSS	Right Ventricle	heart
4	chr4:3464800-3466400	Active TSS	Right Atrium	heart
5	chr4:3464800-3466400	Bivalent/Poised TSS	HepG2	liver
6	chr4:3464800-3468600	Active TSS	HSMMtube	muscle
7	chr4:3465200-3466800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr4:3465200-3468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:3465400-3466400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr4:3465400-3466600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:3465400-3467000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
12	chr4:3465400-3467600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:3465400-3467600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr4:3465600-3466600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:3465800-3467000	Active TSS	Left Ventricle	heart
16	chr4:3465800-3470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3466000-3466400	Flanking Active TSS	Pancreas	Pancrea
18	chr4:3466000-3466400	Flanking Active TSS	Psoas Muscle	Psoas
19	chr4:3466000-3467000	Enhancers	Aorta	Aorta
20	chr4:3466000-3468200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr4:3466200-3466400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:3466200-3466600	Enhancers	Fetal Heart	heart
23	chr4:3466200-3469200	Weak transcription	Gastric	stomach
24	chr4:3466400-3466800	Flanking Active TSS	HSMM	muscle
25	chr4:3466400-3467600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:3466400-3468000	Weak transcription	Psoas Muscle	Psoas
27	chr4:3466400-3468200	Enhancers	Pancreas	Pancrea
28	chr4:3466400-3468800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
30	chr4:3466600-3466800	Flanking Active TSS	Fetal Heart	heart
31	chr4:3466800-3467000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr4:3466800-3467000	Enhancers	Fetal Heart	heart
33	chr4:3466800-3467000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr4:3466800-3467200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:3466800-3469200	Active TSS	HSMM	muscle
36	chr4:3467000-3467200	Flanking Active TSS	Fetal Heart	heart
37	chr4:3467000-3467200	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr4:3467000-3467600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:3467000-3468000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:3467000-3468400	Enhancers	Left Ventricle	heart
41	chr4:3467000-3469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
43	chr4:3467200-3469600	Enhancers	Fetal Heart	heart
44	chr4:3467200-3470400	Enhancers	Fetal Muscle Leg	muscle
45	chr4:3467400-3467600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr4:3467400-3467600	Flanking Active TSS	Right Ventricle	heart
47	chr4:3467600-3467800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:3467600-3467800	Active TSS	Right Ventricle	heart
49	chr4:3467600-3468000	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr4:3467600-3468200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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