Variant report

Variant	nsv593238
Chromosome Location	chr4:1078596-1081307
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	ARID3A	chr4:1078942-1079100	HepG2	liver:	n/a	n/a
2	JUND	chr4:1078964-1079063	HepG2	liver:	n/a	n/a
3	MYC	chr4:1078802-1078865	MCF-7	breast:	n/a	n/a
4	MYC	chr4:1078782-1078786	MCF-7	breast:	n/a	n/a
5	MYC	chr4:1078801-1078845	GM12878	blood:	n/a	n/a
6	STAT3	chr4:1079124-1079320	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1032616..1034149-chr4:1078104..1080094,2	K562	blood:
2	chr4:1076013..1078004-chr4:1078598..1081280,2	K562	blood:
3	chr4:1058468..1061069-chr4:1080892..1083707,2	K562	blood:
4	chr4:1078292..1079927-chr4:1283722..1285747,2	MCF-7	breast:

Variant related genes	Relation type
RNF212	TF binding region

Extended variants
information (count: 86 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17164229	chr4:1078596-1078597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532900941	chr4:1078739-1078740	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs115764266	chr4:1078748-1078749	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs569713009	chr4:1078767-1078768	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs116148541	chr4:1078777-1078778	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs539066682	chr4:1078815-1078816	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs550529227	chr4:1078834-1078835	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs534853284	chr4:1078857-1078858	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568632293	chr4:1078884-1078885	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs535689175	chr4:1078927-1078928	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs554190520	chr4:1078931-1078932	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs557496720	chr4:1078939-1078940	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs76115034	chr4:1078955-1078956	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374309005	chr4:1078970-1078971	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539972433	chr4:1079038-1079039	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557710508	chr4:1079083-1079084	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576065067	chr4:1079090-1079091	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs536913810	chr4:1079091-1079092	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs555263892	chr4:1079103-1079104	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs573735211	chr4:1079189-1079190	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs540878672	chr4:1079276-1079277	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs367842216	chr4:1079298-1079299	Weak transcription Bivalent Enhancer Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs140928446	chr4:1079324-1079325	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577660733	chr4:1079342-1079343	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545117149	chr4:1079346-1079347	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563257008	chr4:1079356-1079357	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530533480	chr4:1079378-1079379	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550464170	chr4:1079420-1079421	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs562370189	chr4:1079445-1079446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs370672337	chr4:1079475-1079476	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs183417554	chr4:1079513-1079514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs186026441	chr4:1079517-1079518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566293504	chr4:1079551-1079552	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs150384251	chr4:1079561-1079562	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs368058443	chr4:1079565-1079566	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569687395	chr4:1079568-1079569	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs537050829	chr4:1079622-1079623	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs145079835	chr4:1079623-1079624	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs372968790	chr4:1079633-1079634	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs573845600	chr4:1079634-1079635	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs369580247	chr4:1079640-1079641	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs534964140	chr4:1079645-1079646	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs190735018	chr4:1079651-1079652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs201086172	chr4:1079655-1079656	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs545089923	chr4:1079662-1079663	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs374307132	chr4:1079665-1079666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs540539692	chr4:1079667-1079668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs377718039	chr4:1079669-1079670	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs200680799	chr4:1079676-1079677	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs371423387	chr4:1079677-1079678	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Glioma	20126413	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1076800-1078600	Weak transcription	Adipose Nuclei	Adipose
2	chr4:1076800-1078800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:1076800-1080000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:1076800-1082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:1077600-1078600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:1077600-1078600	Weak transcription	Pancreas	Pancrea
7	chr4:1078600-1078800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:1078600-1078800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:1078600-1079000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:1078600-1080200	Enhancers	Adipose Nuclei	Adipose
11	chr4:1078600-1080200	Enhancers	Pancreas	Pancrea
12	chr4:1078800-1079000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:1078800-1079000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:1078800-1079000	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr4:1078800-1079200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:1079000-1079400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:1079000-1080200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:1079400-1080400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:1079800-1080000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:1080000-1080200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr4:1080000-1080200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:1080000-1080200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr4:1080000-1080400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr4:1080000-1080400	Enhancers	Spleen	Spleen
25	chr4:1080200-1086000	Weak transcription	Pancreas	Pancrea
26	chr4:1080400-1081200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:1081200-1082600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood

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