Variant report

Variant	esv16089
Chromosome Location	chr4:9776572-9783031
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:244)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr4:9779146-9779367	GM12878	blood:	n/a	n/a
2	BCL11A	chr4:9779122-9779297	GM12878	blood:	n/a	n/a
3	CTCF	chr4:9781950-9782040	GM10248	blood:	n/a	n/a
4	CTCF	chr4:9778239-9778289	Pancreas_OC	pancreas:	n/a	n/a
5	CTCF	chr4:9779289-9779334	GM10248	blood:	n/a	n/a
6	CTCF	chr4:9779200-9779350	GM12864	blood:	n/a	n/a
7	EBF1	chr4:9779153-9779375	GM12878	blood:	n/a	n/a
8	EBF1	chr4:9779109-9779437	GM12878	blood:	n/a	n/a
9	EP300	chr4:9779126-9779262	GM12878	blood:	n/a	n/a
10	FOSL2	chr4:9781794-9782219	HepG2	liver:	n/a	n/a
11	FOSL2	chr4:9776586-9776812	HepG2	liver:	n/a	n/a
12	MAFK	chr4:9782348-9782451	H1-hESC	embryonic stem cell:	n/a	n/a
13	PAX5	chr4:9779746-9780014	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:9780704-9780716	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:9780750-9780836	HepG2	liver:	n/a	n/a
16	POLR2A	chr4:9776757-9776778	HepG2	liver:	n/a	n/a
17	SIN3A	chr4:9783001-9783554	H1-hESC	embryonic stem cell:	n/a	chr4:9783495-9783506 chr4:9783236-9783249
18	TBP	chr4:9782917-9783541	H1-hESC	embryonic stem cell:	n/a	n/a
19	USF1	chr4:9776719-9776909	H1-hESC	embryonic stem cell:	n/a	n/a
20	USF1	chr4:9777185-9777380	HepG2	liver:	n/a	chr4:9777297-9777308
21	USF2	chr4:9776711-9776905	GM12878	blood:	n/a	n/a
22	USF2	chr4:9783007-9783128	H1-hESC	embryonic stem cell:	n/a	n/a
23	WRNIP1	chr4:9779366-9779501	GM12878	blood:	n/a	n/a
24	ZNF384	chr4:9778810-9779046	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:9782931-9782981	SK-N-MC	brain:	n/a
2	chr4:9782931-9782981	Hepatocyte	liver:	n/a
3	chr4:9780269-9780319	HAEpiC	amniotic membrane:	n/a
4	chr4:9782931-9782981	NHBE	bronchial:	n/a
5	chr4:9780269-9780319	GM12891	blood:	n/a
6	chr4:9782931-9782981	T-47D	breast:	n/a
7	chr4:9782243-9782293	MCF-7	breast:	n/a
8	chr4:9782243-9782293	SK-N-MC	brain:	n/a
9	chr4:9782243-9782293	GM12878	blood:	n/a
10	chr4:9782243-9782293	SAEC	small airway:	n/a
11	chr4:9782931-9782981	PFSK-1	brain:	n/a
12	chr4:9782931-9782981	HCM	heart:	n/a
13	chr4:9782243-9782293	AG10803	skin:	n/a
14	chr4:9782243-9782293	NHBE	bronchial:	n/a
15	chr4:9782931-9782981	HRCEpiC	kidney:	n/a
16	chr4:9782243-9782293	HCF	heart:	n/a
17	chr4:9780269-9780319	NH-A	brain:	n/a
18	chr4:9780269-9780319	SK-N-SH_RA	brain:	n/a
19	chr4:9782891-9782941	GM06990	blood:	n/a
20	chr4:9782931-9782981	HNPCEpiC	eye:	n/a
21	chr4:9780269-9780319	Jurkat	blood:	n/a
22	chr4:9780269-9780319	LNCaP	prostate:	n/a
23	chr4:9782243-9782293	HepG2	liver:	n/a
24	chr4:9782243-9782293	AoSMC	blood vessel:	n/a
25	chr4:9782891-9782941	LNCaP	prostate:	n/a
26	chr4:9780269-9780319	SK-N-SH	brain:	n/a
27	chr4:9782891-9782941	HEEpiC	esophagus:	n/a
28	chr4:9782243-9782293	PFSK-1	brain:	n/a
29	chr4:9780269-9780319	PANC-1	pancreas:	n/a
30	chr4:9782931-9782981	AG04449	skin:	fetal
31	chr4:9782891-9782941	MCF10A-Er-Src	breast:	n/a
32	chr4:9780269-9780319	RPTEC	kidney:	n/a
33	chr4:9782931-9782981	SAEC	small airway:	n/a
34	chr4:9782931-9782981	HUVEC	blood vessel:	n/a
35	chr4:9780269-9780319	GM19239	blood:	n/a
36	chr4:9780269-9780319	T-47D	breast:	n/a
37	chr4:9782931-9782981	AG04450	lung:	fetal
38	chr4:9782891-9782941	T-47D	breast:	n/a
39	chr4:9782243-9782293	AG04449	skin:	fetal
40	chr4:9782891-9782941	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:9780269-9780319	GM12892	blood:	n/a
42	chr4:9782931-9782981	H1-hESC	embryonic stem cell:	embryo
43	chr4:9782891-9782941	RPTEC	kidney:	n/a
44	chr4:9780269-9780319	SK-N-MC	brain:	n/a
45	chr4:9782243-9782293	AG04450	lung:	fetal
46	chr4:9782243-9782293	PrEC	prostate:	n/a
47	chr4:9782891-9782941	ovcar-3	ovarian:	n/a
48	chr4:9782931-9782981	Hela-S3	cervix:	n/a
49	chr4:9780269-9780319	ECC-1	luminal epithelium:	n/a
50	chr4:9780269-9780319	HepG2	liver:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:9705037..9705657-chr4:9778184..9778690,2	K562	blood:

No data

Variant related genes	Relation type
DRD5	TF binding region
DRD5	CpG island

Extended variants
information (count: 379 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4096270	chr4:9776578-9776579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539901034	chr4:9776585-9776586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555546313	chr4:9776600-9776601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114376031	chr4:9776641-9776642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528478306	chr4:9776642-9776643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573795073	chr4:9776644-9776645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546631644	chr4:9776652-9776653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4516717	chr4:9776653-9776654	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189317574	chr4:9776657-9776658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181889899	chr4:9776661-9776662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569368171	chr4:9776676-9776677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142021630	chr4:9776684-9776685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557895887	chr4:9776704-9776705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566611139	chr4:9776725-9776726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544416741	chr4:9776727-9776728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533766106	chr4:9776765-9776766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555428872	chr4:9776811-9776812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145873314	chr4:9776817-9776818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544192132	chr4:9776846-9776847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556292503	chr4:9776858-9776859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185129831	chr4:9776874-9776875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371697515	chr4:9776890-9776891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564233804	chr4:9776904-9776905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189585860	chr4:9776938-9776939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540212779	chr4:9776939-9776940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377301789	chr4:9776966-9776967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56095448	chr4:9776967-9776968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs551012442	chr4:9776972-9776973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35732725	chr4:9777031-9777032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181177345	chr4:9777040-9777041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115795392	chr4:9777160-9777161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186021745	chr4:9777185-9777186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566548949	chr4:9777203-9777204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545374153	chr4:9777204-9777205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202008581	chr4:9777264-9777265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369543699	chr4:9777270-9777271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150252857	chr4:9777272-9777273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371659085	chr4:9777303-9777304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189988257	chr4:9777356-9777357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556196899	chr4:9777386-9777387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62293225	chr4:9777387-9777388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs180782192	chr4:9777388-9777389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1878275	chr4:9777401-9777402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs572987355	chr4:9777411-9777412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540345381	chr4:9777422-9777423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564277839	chr4:9777441-9777442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562086698	chr4:9777447-9777448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540085178	chr4:9777458-9777459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529274881	chr4:9777460-9777461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73090796	chr4:9777468-9777469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Wilms tumour	21544195	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
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
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
Sezary syndrome	18413736	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Neuroblastoma	20406844	CNVD
early-passage human iPS cells	21368824	CNVD
Sinonasal adenocarcinoma	21360264	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9766800-9782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:9775200-9776800	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:9781200-9781600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:9781400-9781600	Enhancers	HMEC	breast
5	chr4:9781400-9781800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:9781400-9781800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:9781400-9781800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:9781400-9781800	Bivalent Enhancer	NHEK	skin
9	chr4:9781600-9781800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:9781600-9781800	Bivalent Enhancer	Small Intestine	intestine
11	chr4:9781800-9782200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr4:9782000-9782200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:9782400-9783000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:9782400-9783400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr4:9782600-9783800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:9782600-9784000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:9782800-9783000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:9782800-9783400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:9782800-9783400	Active TSS	Colonic Mucosa	Colon
20	chr4:9782800-9783400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr4:9782800-9783600	Active TSS	H9 Cell Line	embryonic stem cell
22	chr4:9782800-9783600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:9782800-9783800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr4:9782800-9783800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:9782800-9783800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:9782800-9784000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr4:9782800-9784000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr4:9782800-9784000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr4:9783000-9783200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:9783000-9783400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:9783000-9783400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
32	chr4:9783000-9783600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:9783000-9783600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:9783000-9783600	Bivalent/Poised TSS	Fetal Brain Female	brain
35	chr4:9783000-9783600	Active TSS	Right Atrium	heart
36	chr4:9783000-9783800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:9783000-9783800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:9783000-9783800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:9783000-9784000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:9783000-9784000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr4:9783000-9784000	Bivalent Enhancer	Fetal Brain Male	brain

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