Variant report

Variant	esv3426356
Chromosome Location	chr4:7387701-7390199
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7379670..7381494-chr4:7386089..7388164,2	MCF-7	breast:

Extended variants
information (count: 268 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:268 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565380496	chr4:7387708-7387709	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181217461	chr4:7387711-7387712	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554392268	chr4:7387742-7387743	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569751411	chr4:7387751-7387752	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11728442	chr4:7387766-7387767	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558724772	chr4:7387775-7387776	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577065010	chr4:7387789-7387790	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541383499	chr4:7387797-7387798	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553294022	chr4:7387798-7387799	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574914428	chr4:7387800-7387801	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73210454	chr4:7387817-7387818	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563501556	chr4:7387827-7387828	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543458118	chr4:7387834-7387835	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200686234	chr4:7387835-7387836	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202220291	chr4:7387836-7387837	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201628627	chr4:7387837-7387838	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201351249	chr4:7387851-7387852	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536093378	chr4:7387857-7387858	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531045763	chr4:7387858-7387859	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545931577	chr4:7387860-7387861	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529629525	chr4:7387866-7387867	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564388648	chr4:7387885-7387886	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368949169	chr4:7387891-7387892	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546927168	chr4:7387899-7387900	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375949915	chr4:7387900-7387901	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11728474	chr4:7387903-7387904	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529513543	chr4:7387907-7387908	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548181808	chr4:7387911-7387912	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560034497	chr4:7387917-7387918	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552207243	chr4:7387922-7387923	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200160636	chr4:7387923-7387924	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569507652	chr4:7387929-7387930	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149054466	chr4:7387932-7387933	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374004198	chr4:7387934-7387935	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12504772	chr4:7387939-7387940	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201107328	chr4:7387944-7387945	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570700234	chr4:7387963-7387964	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10937812	chr4:7387971-7387972	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553175380	chr4:7387980-7387981	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537817420	chr4:7387981-7387982	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574799015	chr4:7387999-7388000	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535347068	chr4:7388000-7388001	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557326978	chr4:7388018-7388019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575545193	chr4:7388023-7388024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546316357	chr4:7388024-7388025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564221841	chr4:7388029-7388030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11733692	chr4:7388030-7388031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376947796	chr4:7388035-7388036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540450408	chr4:7388040-7388041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561914124	chr4:7388047-7388048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7381000-7387800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:7383400-7393600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:7384200-7399600	Weak transcription	Right Atrium	heart
4	chr4:7384600-7390800	Weak transcription	Ovary	ovary
5	chr4:7385000-7391400	Weak transcription	Brain Anterior Caudate	brain
6	chr4:7385400-7389600	Weak transcription	Fetal Brain Male	brain
7	chr4:7385400-7391200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:7385800-7391800	Weak transcription	Brain Germinal Matrix	brain
9	chr4:7387000-7387800	Enhancers	Brain Substantia Nigra	brain
10	chr4:7387200-7388000	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:7387400-7389200	Weak transcription	Fetal Lung	lung
12	chr4:7387400-7389600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:7387600-7388000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:7387600-7391600	Weak transcription	Brain Angular Gyrus	brain
15	chr4:7387800-7390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:7387800-7391400	Weak transcription	Brain Substantia Nigra	brain
17	chr4:7388000-7389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:7388000-7391600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:7389200-7389400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:7389400-7389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:7389400-7389800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7389400-7390000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr4:7389400-7390000	ZNF genes & repeats	Fetal Lung	lung
24	chr4:7389600-7389800	ZNF genes & repeats	Fetal Brain Male	brain
25	chr4:7389600-7389800	ZNF genes & repeats	Fetal Kidney	kidney
26	chr4:7389600-7390000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:7389600-7390000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:7389800-7390000	Enhancers	Fetal Kidney	kidney
29	chr4:7389800-7390000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr4:7389800-7399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:7390000-7391200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr4:7390000-7391200	Weak transcription	Fetal Kidney	kidney
33	chr4:7390000-7393800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:7390000-7393800	Weak transcription	Fetal Lung	lung

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