Variant report

Variant	esv3468211
Chromosome Location	chr4:1047813-1048403
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1042064..1045606-chr4:1047862..1051205,4	K562	blood:
2	chr4:1046102..1048749-chr4:1049067..1050606,2	MCF-7	breast:
3	chr4:1048335..1050594-chr4:1053315..1054904,2	K562	blood:
4	chr4:1045118..1048090-chr4:1052343..1053975,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200300959	chr4:1047813-1047814	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs55877919	chr4:1047837-1047838	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554501332	chr4:1047856-1047857	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs71604337	chr4:1047875-1047876	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs56179846	chr4:1047901-1047902	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs71604338	chr4:1047904-1047905	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572870938	chr4:1047927-1047928	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs71604339	chr4:1047970-1047971	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533811768	chr4:1048023-1048024	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs79907751	chr4:1048028-1048029	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs112920560	chr4:1048167-1048168	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs200383974	chr4:1048169-1048170	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs112609004	chr4:1048177-1048178	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs373329644	chr4:1048214-1048215	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs376759572	chr4:1048235-1048236	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs578257023	chr4:1048253-1048254	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs545554925	chr4:1048257-1048258	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs369235343	chr4:1048296-1048297	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs563739420	chr4:1048300-1048301	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs62294694	chr4:1048307-1048308	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs377415130	chr4:1048345-1048346	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs113555289	chr4:1048347-1048348	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs113344601	chr4:1048397-1048398	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs561088302	chr4:1048398-1048399	Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1040800-1048600	Weak transcription	Right Atrium	heart
2	chr4:1041200-1049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:1042200-1052200	Weak transcription	Gastric	stomach
4	chr4:1046600-1049200	Weak transcription	Lung	lung
5	chr4:1047000-1049200	Active TSS	Right Ventricle	heart
6	chr4:1047200-1049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:1047200-1049200	Weak transcription	Spleen	Spleen
8	chr4:1047400-1049800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr4:1047600-1048000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:1047600-1048000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:1047600-1048000	Active TSS	Psoas Muscle	Psoas
12	chr4:1047600-1048000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
13	chr4:1047600-1049400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:1047800-1048000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
15	chr4:1047800-1048000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:1047800-1048000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr4:1048000-1049200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:1048000-1049200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:1048400-1049200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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