Variant report

Variant	esv3363073
Chromosome Location	chr4:1144802-1147300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr4:1144722-1144917	K562	blood:	n/a	n/a
2	CBX3	chr4:1144667-1144959	K562	blood:	n/a	n/a
3	FOXA1	chr4:1145969-1146382	HepG2	liver:	n/a	chr4:1146175-1146190
4	FOXA1	chr4:1145973-1146392	HepG2	liver:	n/a	chr4:1146175-1146190
5	FOXA1	chr4:1145957-1146371	HepG2	liver:	n/a	chr4:1146175-1146190
6	FOXA1	chr4:1145971-1146261	HepG2	liver:	n/a	chr4:1146175-1146190
7	FOXA2	chr4:1145995-1146240	HepG2	liver:	n/a	n/a
8	SETDB1	chr4:1144644-1144993	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:
2	chr4:1142209..1145011-chr4:1146072..1149745,6	K562	blood:
3	chr4:1142209..1146106-chr4:1146804..1150062,3	K562	blood:
4	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
5	chr4:1146501..1148469-chr4:1159921..1162668,2	MCF-7	breast:
6	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227189	TF binding region
ENSG00000159692	chromatin interactions
ENSG00000227189	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000273179	chromatin interactions

Extended variants
information (count: 103 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557307549	chr4:1144855-1144856	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs187629342	chr4:1144858-1144859	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs538142131	chr4:1144917-1144918	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs529126611	chr4:1145002-1145003	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369455871	chr4:1145026-1145027	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs566055335	chr4:1145052-1145053	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs533961038	chr4:1145062-1145063	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs115574499	chr4:1145063-1145064	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs542079723	chr4:1145065-1145066	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs145622120	chr4:1145072-1145073	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572556677	chr4:1145081-1145082	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546348080	chr4:1145122-1145123	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs374265280	chr4:1145137-1145138	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146763678	chr4:1145148-1145149	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs28785628	chr4:1145184-1145185	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191705081	chr4:1145255-1145256	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543694841	chr4:1145267-1145268	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs573835785	chr4:1145271-1145272	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs561856121	chr4:1145277-1145278	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs529047169	chr4:1145279-1145280	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs140436378	chr4:1145300-1145301	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373534924	chr4:1145320-1145321	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs538180584	chr4:1145337-1145338	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs182849832	chr4:1145344-1145345	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs370177515	chr4:1145422-1145423	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs532858911	chr4:1145450-1145451	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369270423	chr4:1145462-1145463	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs551104622	chr4:1145473-1145474	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs571259616	chr4:1145488-1145489	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs79238958	chr4:1145497-1145498	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs569272233	chr4:1145529-1145530	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556190261	chr4:1145561-1145562	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs536655105	chr4:1145575-1145576	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550421249	chr4:1145578-1145579	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568676467	chr4:1145579-1145580	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs58186580	chr4:1145630-1145631	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs536181646	chr4:1145664-1145665	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554052257	chr4:1145665-1145666	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372568908	chr4:1145679-1145680	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs117917542	chr4:1145680-1145681	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558286627	chr4:1145685-1145686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576477805	chr4:1145722-1145723	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543466114	chr4:1145730-1145731	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376527332	chr4:1145731-1145732	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562145227	chr4:1145756-1145757	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573829934	chr4:1145782-1145783	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs541361907	chr4:1145787-1145788	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559115040	chr4:1145847-1145848	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532971547	chr4:1145896-1145897	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs577749328	chr4:1145913-1145914	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	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	20932292	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1124800-1149600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:1143600-1145200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:1143600-1145400	Enhancers	Pancreas	Pancrea
4	chr4:1143800-1146200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:1144000-1145400	ZNF genes & repeats	Fetal Stomach	stomach
6	chr4:1144800-1145000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
7	chr4:1145000-1148200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:1145200-1146000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:1145400-1146200	Flanking Active TSS	Pancreas	Pancrea
10	chr4:1145400-1146600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:1145600-1146400	Enhancers	Gastric	stomach
12	chr4:1145800-1146000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:1145800-1146200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:1145800-1146400	Bivalent Enhancer	Stomach Mucosa	stomach
15	chr4:1145800-1146400	Bivalent Enhancer	HepG2	liver
16	chr4:1145800-1148600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:1146000-1146800	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr4:1146200-1148400	Active TSS	Pancreas	Pancrea
19	chr4:1146400-1146600	Enhancers	Stomach Mucosa	stomach
20	chr4:1146400-1146800	Weak transcription	Gastric	stomach
21	chr4:1146600-1160800	Weak transcription	Ovary	ovary
22	chr4:1146800-1147000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr4:1146800-1147000	Enhancers	Gastric	stomach
24	chr4:1147000-1147400	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr4:1147000-1148400	Weak transcription	Gastric	stomach

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