Variant report

Variant	esv3493484
Chromosome Location	chr4:1088702-1091300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1073585..1077671-chr4:1089546..1092795,3	MCF-7	breast:
2	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:
3	chr4:1086221..1088731-chr4:1090765..1092594,2	MCF-7	breast:
4	chr4:1090535..1093016-chr4:1094804..1097177,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178222	chromatin interactions
ENSG00000251639	chromatin interactions

Extended variants
information (count: 212 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553640104	chr4:1088743-1088744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371621127	chr4:1088756-1088757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562820482	chr4:1088789-1088790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62294752	chr4:1088843-1088844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs78045754	chr4:1088871-1088872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561758986	chr4:1088872-1088873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530295559	chr4:1088886-1088887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561201867	chr4:1088891-1088892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548923165	chr4:1088909-1088910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567024203	chr4:1088911-1088912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs636976	chr4:1088915-1088916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs543414385	chr4:1088933-1088934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs582202	chr4:1088943-1088944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74578663	chr4:1088944-1088945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538366690	chr4:1088949-1088950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187688273	chr4:1088968-1088969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556266265	chr4:1088970-1088971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191845789	chr4:1088972-1088973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs582142	chr4:1088973-1088974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374588813	chr4:1088974-1088975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184182494	chr4:1088976-1088977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542540986	chr4:1089001-1089002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71602719	chr4:1089003-1089004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7670185	chr4:1089004-1089005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7687763	chr4:1089005-1089006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371780652	chr4:1089018-1089019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7686397	chr4:1089025-1089026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368612896	chr4:1089027-1089028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571867361	chr4:1089029-1089030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545582503	chr4:1089032-1089033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372901343	chr4:1089048-1089049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374876807	chr4:1089077-1089078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369048108	chr4:1089091-1089092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372657842	chr4:1089121-1089122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541119701	chr4:1089123-1089124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71602720	chr4:1089143-1089144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576033106	chr4:1089145-1089146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112740909	chr4:1089150-1089151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75180289	chr4:1089167-1089168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200772374	chr4:1089173-1089174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543520492	chr4:1089178-1089179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12647792	chr4:1089180-1089181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28537704	chr4:1089182-1089183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55829005	chr4:1089195-1089196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71602721	chr4:1089202-1089203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113099775	chr4:1089209-1089210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79149095	chr4:1089226-1089227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56294238	chr4:1089239-1089240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56213440	chr4:1089241-1089242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552785055	chr4:1089254-1089255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD
Type 2 diabetes	21754918	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1084200-1093400	Weak transcription	Ovary	ovary
2	chr4:1086000-1098400	Weak transcription	Lung	lung
3	chr4:1086200-1091400	Weak transcription	Gastric	stomach
4	chr4:1086200-1098600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:1087600-1090400	Weak transcription	Pancreas	Pancrea
6	chr4:1088400-1093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:1088600-1093600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:1090400-1093400	Enhancers	Pancreas	Pancrea
9	chr4:1090600-1091000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr4:1090800-1091000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:1090800-1091000	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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