Variant report

Variant	esv1794034
Chromosome Location	chr4:7441746-7455090
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:7452936..7455745-chr4:7457448..7459365,2	MCF-7	breast:
2	chr4:7426666..7428188-chr4:7440042..7442576,2	MCF-7	breast:
3	chr4:7455060..7457538-chr4:7459563..7461357,2	K562	blood:
4	chr4:7445641..7447880-chr4:7451112..7453216,2	K562	blood:
5	chr4:7436453..7438238-chr4:7441242..7443096,2	MCF-7	breast:
6	chr4:7432269..7435967-chr4:7438458..7442398,4	MCF-7	breast:
7	chr4:7445641..7447880-chr4:7451112..7453216,2	K562	blood:
8	chr4:7444681..7447159-chr4:7457852..7459823,2	MCF-7	breast:
9	chr4:7421765..7423604-chr4:7439157..7441831,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178597	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4689119	chr4:7441746-7441747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs377515554	chr4:7441757-7441758	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539369031	chr4:7441777-7441778	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs182183278	chr4:7441788-7441789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562177830	chr4:7441791-7441792	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4425375	chr4:7441852-7441853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374277841	chr4:7441871-7441872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs187191550	chr4:7441872-7441873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs544548978	chr4:7441896-7441897	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562831201	chr4:7441904-7441905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533404620	chr4:7441912-7441913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551909730	chr4:7441933-7441934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377629279	chr4:7441948-7441949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4234806	chr4:7441974-7441975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs546655626	chr4:7441981-7441982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4234807	chr4:7441983-7441984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs535635956	chr4:7441984-7441985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565481896	chr4:7442001-7442002	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550756056	chr4:7442002-7442003	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs371810846	chr4:7442030-7442031	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs367968148	chr4:7442031-7442032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535918501	chr4:7442032-7442033	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540964490	chr4:7442051-7442052	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559224553	chr4:7442052-7442053	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573174972	chr4:7442078-7442079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4234808	chr4:7442086-7442087	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs555824911	chr4:7442120-7442121	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs4689748	chr4:7442126-7442127	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544409302	chr4:7442128-7442129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562717058	chr4:7442132-7442133	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191344627	chr4:7442247-7442248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs4586934	chr4:7442279-7442280	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563956581	chr4:7442295-7442296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201550900	chr4:7442303-7442304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs376454873	chr4:7442320-7442321	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74517891	chr4:7442334-7442335	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183585381	chr4:7442336-7442337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373010771	chr4:7442343-7442344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77375122	chr4:7442349-7442350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577025802	chr4:7442360-7442361	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs61365943	chr4:7442383-7442384	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs146711013	chr4:7442442-7442443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566796545	chr4:7442465-7442466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534186128	chr4:7442504-7442505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs560489709	chr4:7442511-7442512	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs577574891	chr4:7442512-7442513	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs572601078	chr4:7442517-7442518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs555299183	chr4:7442542-7442543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188712558	chr4:7442544-7442545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139222297	chr4:7442558-7442559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7436800-7443000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7437800-7462400	Weak transcription	Right Atrium	heart
3	chr4:7438200-7442600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7438200-7447000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:7441200-7442000	Enhancers	HSMMtube	muscle
6	chr4:7441200-7442800	Enhancers	Stomach Mucosa	stomach
7	chr4:7442000-7442200	Flanking Active TSS	HSMMtube	muscle
8	chr4:7442200-7443000	Enhancers	Esophagus	oesophagus
9	chr4:7442600-7442800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:7442600-7443400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7442800-7443000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:7442800-7443200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:7443000-7443200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:7443000-7443200	Enhancers	Stomach Mucosa	stomach
15	chr4:7443000-7443400	Enhancers	H1 Cell Line	embryonic stem cell
16	chr4:7443000-7443400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:7443200-7443400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:7443200-7444400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:7443400-7444400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:7443400-7444400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:7443400-7444400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:7443400-7444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7444400-7444800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:7444400-7444800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:7444400-7444800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:7444400-7444800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:7444400-7444800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:7444400-7444800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr4:7444400-7445000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:7444400-7445000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:7444400-7445200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:7444400-7445200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:7444600-7444800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr4:7444800-7448000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:7445200-7445800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:7445800-7451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:7446200-7446600	Enhancers	HepG2	liver
38	chr4:7446200-7447000	Enhancers	Liver	Liver
39	chr4:7446200-7447000	Enhancers	Stomach Mucosa	stomach
40	chr4:7446600-7453400	Weak transcription	Brain Substantia Nigra	brain
41	chr4:7446800-7447200	Enhancers	Fetal Muscle Leg	muscle
42	chr4:7447000-7447200	Bivalent Enhancer	Fetal Stomach	stomach
43	chr4:7447000-7447800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr4:7447000-7448200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:7447200-7447600	Bivalent Enhancer	Fetal Muscle Leg	muscle
46	chr4:7448000-7448200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:7448000-7448400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr4:7449200-7449400	Enhancers	Ovary	ovary
49	chr4:7449400-7449600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr4:7449400-7449800	Flanking Active TSS	Ovary	ovary

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