Variant report

Variant	esv3427149
Chromosome Location	chr4:7386951-7391049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7390826..7393048-chr4:7397978..7399599,2	K562	blood:
2	chr4:7385620..7387196-chr4:7395929..7398822,2	MCF-7	breast:
3	chr4:7379670..7381494-chr4:7386089..7388164,2	MCF-7	breast:
4	chr1:9471245..9471745-chr4:7390618..7391126,2	K562	blood:

Extended variants
information (count: 360 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:360 , 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	rs371494052	chr4:7386958-7386959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs548654580	chr4:7386978-7386979	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs545414118	chr4:7387008-7387009	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192362829	chr4:7387016-7387017	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs537636722	chr4:7387059-7387060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139541666	chr4:7387060-7387061	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs571146967	chr4:7387078-7387079	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs184435476	chr4:7387084-7387085	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs556007734	chr4:7387091-7387092	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs553362476	chr4:7387175-7387176	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs565292564	chr4:7387185-7387186	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs557993021	chr4:7387205-7387206	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs74520849	chr4:7387222-7387223	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs554642509	chr4:7387256-7387257	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs7662100	chr4:7387271-7387272	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs149654446	chr4:7387297-7387298	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs558436764	chr4:7387305-7387306	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs142473474	chr4:7387316-7387317	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs11735515	chr4:7387340-7387341	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189778776	chr4:7387376-7387377	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs531476210	chr4:7387388-7387389	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs11735546	chr4:7387402-7387403	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs367996106	chr4:7387421-7387422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576347576	chr4:7387450-7387451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12503904	chr4:7387528-7387529	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs530882326	chr4:7387541-7387542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144447145	chr4:7387575-7387576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73210453	chr4:7387619-7387620	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528764604	chr4:7387640-7387641	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546888513	chr4:7387648-7387649	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565380496	chr4:7387708-7387709	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181217461	chr4:7387711-7387712	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554392268	chr4:7387742-7387743	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569751411	chr4:7387751-7387752	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs11728442	chr4:7387766-7387767	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558724772	chr4:7387775-7387776	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577065010	chr4:7387789-7387790	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541383499	chr4:7387797-7387798	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553294022	chr4:7387798-7387799	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574914428	chr4:7387800-7387801	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73210454	chr4:7387817-7387818	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs563501556	chr4:7387827-7387828	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543458118	chr4:7387834-7387835	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200686234	chr4:7387835-7387836	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs202220291	chr4:7387836-7387837	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201628627	chr4:7387837-7387838	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201351249	chr4:7387851-7387852	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536093378	chr4:7387857-7387858	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531045763	chr4:7387858-7387859	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545931577	chr4:7387860-7387861	Active TSS Weak transcription Enhancers	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:49 , 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	chr4:7383800-7387400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7384000-7387200	Weak transcription	Right Ventricle	heart
5	chr4:7384200-7399600	Weak transcription	Right Atrium	heart
6	chr4:7384600-7390800	Weak transcription	Ovary	ovary
7	chr4:7385000-7391400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:7385200-7387000	Weak transcription	Brain Substantia Nigra	brain
9	chr4:7385400-7387000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:7385400-7389600	Weak transcription	Fetal Brain Male	brain
11	chr4:7385400-7391200	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7385800-7391800	Weak transcription	Brain Germinal Matrix	brain
13	chr4:7386000-7387200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:7386400-7387400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr4:7386800-7387400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr4:7387000-7387600	Enhancers	Brain Angular Gyrus	brain
17	chr4:7387000-7387800	Enhancers	Brain Substantia Nigra	brain
18	chr4:7387200-7387400	Enhancers	Right Ventricle	heart
19	chr4:7387200-7388000	Enhancers	Brain Cingulate Gyrus	brain
20	chr4:7387400-7389200	Weak transcription	Fetal Lung	lung
21	chr4:7387400-7389600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:7387600-7388000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:7387600-7391600	Weak transcription	Brain Angular Gyrus	brain
24	chr4:7387800-7390400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr4:7387800-7391400	Weak transcription	Brain Substantia Nigra	brain
26	chr4:7388000-7389200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr4:7388000-7391600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr4:7389200-7389400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:7389400-7389600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:7389400-7389800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:7389400-7390000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
32	chr4:7389400-7390000	ZNF genes & repeats	Fetal Lung	lung
33	chr4:7389600-7389800	ZNF genes & repeats	Fetal Brain Male	brain
34	chr4:7389600-7389800	ZNF genes & repeats	Fetal Kidney	kidney
35	chr4:7389600-7390000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:7389600-7390000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:7389800-7390000	Enhancers	Fetal Kidney	kidney
38	chr4:7389800-7390000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr4:7389800-7399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:7390000-7391200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:7390000-7391200	Weak transcription	Fetal Kidney	kidney
42	chr4:7390000-7393800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:7390000-7393800	Weak transcription	Fetal Lung	lung
44	chr4:7390400-7390600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
45	chr4:7390600-7390800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:7390800-7391800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr4:7390800-7392000	Enhancers	Ovary	ovary
48	chr4:7390800-7397400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:7391000-7392200	Bivalent Enhancer	Fetal Stomach	stomach

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