Variant report

Variant	esv3342348
Chromosome Location	chr4:3466704-3469502
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3113077..3115750-chr4:3467353..3469747,2	MCF-7	breast:
2	chr4:3294365..3296058-chr4:3468605..3470363,2	MCF-7	breast:
3	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
4	chr4:3231157..3234122-chr4:3467560..3470032,2	MCF-7	breast:
5	chr11:3078361..3079999-chr4:3467036..3469656,2	MCF-7	breast:
6	chr4:3465519..3467686-chr4:3526203..3530625,4	MCF-7	breast:
7	chr4:3343221..3349626-chr4:3462156..3471133,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110619	chromatin interactions
ENSG00000159788	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	rs16844413	chr4:3467450-3467451	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552568948	chr4:3467470-3467471	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570385504	chr4:3467488-3467489	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs528365442	chr4:3467490-3467491	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs386670688	chr4:3467504-3467505	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6815437	chr4:3467505-3467506	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs565452079	chr4:3467506-3467507	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575793928	chr4:3467508-3467509	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115507242	chr4:3467509-3467510	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs10022329	chr4:3467519-3467520	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530423544	chr4:3467524-3467525	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184107950	chr4:3467533-3467534	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529066875	chr4:3467550-3467551	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560494543	chr4:3467555-3467556	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs532636651	chr4:3467567-3467568	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs188614025	chr4:3467611-3467612	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs9993560	chr4:3467629-3467630	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs571419092	chr4:3467632-3467633	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs181099868	chr4:3467638-3467639	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183638703	chr4:3467650-3467651	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568935395	chr4:3467653-3467654	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs28532795	chr4:3467658-3467659	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557121741	chr4:3467661-3467662	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3464600-3466800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
2	chr4:3464600-3467400	Active TSS	Right Ventricle	heart
3	chr4:3464800-3468600	Active TSS	HSMMtube	muscle
4	chr4:3465200-3466800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
5	chr4:3465200-3468400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:3465400-3467000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
7	chr4:3465400-3467600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3465400-3467600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr4:3465800-3467000	Active TSS	Left Ventricle	heart
10	chr4:3465800-3470000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:3466000-3467000	Enhancers	Aorta	Aorta
12	chr4:3466000-3468200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr4:3466200-3469200	Weak transcription	Gastric	stomach
14	chr4:3466400-3466800	Flanking Active TSS	HSMM	muscle
15	chr4:3466400-3467600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:3466400-3468000	Weak transcription	Psoas Muscle	Psoas
17	chr4:3466400-3468200	Enhancers	Pancreas	Pancrea
18	chr4:3466400-3468800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr4:3466400-3482400	Weak transcription	Right Atrium	heart
20	chr4:3466600-3466800	Flanking Active TSS	Fetal Heart	heart
21	chr4:3466800-3467000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:3466800-3467000	Enhancers	Fetal Heart	heart
23	chr4:3466800-3467000	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr4:3466800-3467200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:3466800-3469200	Active TSS	HSMM	muscle
26	chr4:3467000-3467200	Flanking Active TSS	Fetal Heart	heart
27	chr4:3467000-3467200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr4:3467000-3467600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:3467000-3468000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr4:3467000-3468400	Enhancers	Left Ventricle	heart
31	chr4:3467000-3469600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr4:3467000-3493600	Weak transcription	Aorta	Aorta
33	chr4:3467200-3469600	Enhancers	Fetal Heart	heart
34	chr4:3467200-3470400	Enhancers	Fetal Muscle Leg	muscle
35	chr4:3467400-3467600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr4:3467400-3467600	Flanking Active TSS	Right Ventricle	heart
37	chr4:3467600-3467800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr4:3467600-3467800	Active TSS	Right Ventricle	heart
39	chr4:3467600-3468000	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr4:3467600-3468200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:3467600-3468800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr4:3467600-3469400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr4:3467600-3473000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:3467800-3468000	Flanking Active TSS	Right Ventricle	heart
45	chr4:3468000-3468200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:3468000-3468200	Bivalent Enhancer	Colonic Mucosa	Colon
47	chr4:3468000-3468200	Active TSS	Right Ventricle	heart
48	chr4:3468000-3468200	Flanking Bivalent TSS/Enh	HepG2	liver
49	chr4:3468000-3468800	Enhancers	Psoas Muscle	Psoas
50	chr4:3468000-3468800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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