Variant report

Variant	esv3467721
Chromosome Location	chr4:165862102-165867000
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	CTCF	chr4:165864460-165864610	NHEK	skin:	n/a	n/a
2	CTCF	chr4:165864520-165864670	MCF-7	breast:	n/a	n/a
3	CTCF	chr4:165864593-165864638	MCF-7	breast:	n/a	n/a
4	CTCF	chr4:165864559-165864620	MCF-7	breast:	n/a	n/a
5	STAT3	chr4:165866541-165866563	MCF10A-Er-Src	breast:	n/a	n/a
6	WRNIP1	chr4:165864527-165864679	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:165866322..165867965-chr4:165877072..165879577,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236941	TF binding region
ENSG00000248645	TF binding region
NACA3P	TF binding region
ENSG00000250486	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570478553	chr4:165862149-165862150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376204026	chr4:165862173-165862174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551421051	chr4:165862250-165862251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs138764859	chr4:165862251-165862252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533980985	chr4:165862308-165862309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181213312	chr4:165862377-165862378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567283544	chr4:165862378-165862379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537954989	chr4:165862383-165862384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556590782	chr4:165862408-165862409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367753012	chr4:165862425-165862426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539204633	chr4:165862447-165862448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554193888	chr4:165862454-165862455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572772843	chr4:165862463-165862464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570166875	chr4:165862470-165862471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140367773	chr4:165862524-165862525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561674958	chr4:165862540-165862541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573631787	chr4:165862542-165862543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543988685	chr4:165862577-165862578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562590326	chr4:165862578-165862579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4383571	chr4:165862591-165862592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533008259	chr4:165862659-165862660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185356399	chr4:165862688-165862689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560231551	chr4:165862699-165862700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7694572	chr4:165862707-165862708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs137936141	chr4:165862718-165862719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567347246	chr4:165862719-165862720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372463575	chr4:165862732-165862733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537812445	chr4:165862751-165862752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189846899	chr4:165862757-165862758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367925675	chr4:165862760-165862761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149454134	chr4:165862772-165862773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370261568	chr4:165862805-165862806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375392950	chr4:165862845-165862846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554333835	chr4:165862853-165862854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182127017	chr4:165862939-165862940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187661340	chr4:165862993-165862994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200918518	chr4:165863040-165863041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60635034	chr4:165863041-165863042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200591986	chr4:165863054-165863055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs58111719	chr4:165863060-165863061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573715408	chr4:165863084-165863085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544173205	chr4:165863085-165863086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369563218	chr4:165863103-165863104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12501482	chr4:165863110-165863111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577660073	chr4:165863227-165863228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56921121	chr4:165863265-165863266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544739944	chr4:165863271-165863272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138722613	chr4:165863288-165863289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs80222343	chr4:165863340-165863341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368544261	chr4:165863341-165863342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165859200-165864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:165859200-165869200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:165864200-165864600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:165864200-165864800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:165864400-165864600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:165864400-165864600	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr4:165864400-165864800	Enhancers	NHEK	skin
8	chr4:165864600-165864800	Enhancers	Fetal Muscle Leg	muscle
9	chr4:165864600-165865000	Enhancers	HSMMtube	muscle
10	chr4:165864600-165865200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr4:165864600-165869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:165864800-165869000	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:165864800-165869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:165865800-165867000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr4:165866200-165866600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:165866200-165866800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:165866200-165866800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:165866600-165866800	Enhancers	HMEC	breast
19	chr4:165866600-165868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:165866800-165869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr4:165866800-165870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:165867000-165870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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