Variant report

Variant	esv4358
Chromosome Location	chr4:165861368-165869440
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr4:165867270-165867286	GM12878	blood:	n/a	n/a
2	CTCF	chr4:165864520-165864670	MCF-7	breast:	n/a	n/a
3	CTCF	chr4:165864559-165864620	MCF-7	breast:	n/a	n/a
4	CTCF	chr4:165864460-165864610	NHEK	skin:	n/a	n/a
5	CTCF	chr4:165864593-165864638	MCF-7	breast:	n/a	n/a
6	CTCF	chr4:165869324-165869372	MCF-7	breast:	n/a	n/a
7	EBF1	chr4:165867950-165868316	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:165869143-165869152	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:165869127-165869138	MCF-7	breast:	n/a	n/a
10	POLR2A	chr4:165869111-165869148	ProgFib	skin:	n/a	n/a
11	POLR2A	chr4:165867055-165867726	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:165869313-165869341	MCF-7	breast:	n/a	n/a
13	SPI1	chr4:165868011-165868245	GM12878	blood:	n/a	n/a
14	SPI1	chr4:165868014-165868265	GM12891	blood:	n/a	n/a
15	SPI1	chr4:165867396-165867621	GM12891	blood:	n/a	chr4:165867507-165867520
16	SPI1	chr4:165867366-165867600	K562	blood:	n/a	chr4:165867507-165867520
17	SPI1	chr4:165868069-165868229	GM12878	blood:	n/a	n/a
18	STAT3	chr4:165866541-165866563	MCF10A-Er-Src	breast:	n/a	n/a
19	WRNIP1	chr4:165864527-165864679	GM12878	blood:	n/a	n/a
20	WRNIP1	chr4:165861195-165861370	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:11966992..11968590-chr4:165867023..165868624,2	K562	blood:
2	chr4:165866322..165867965-chr4:165877072..165879577,2	MCF-7	breast:
3	chr4:165868972..165872041-chr4:165876298..165879460,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf39-3	chr4:165869231-165869699	NONHSAT099093

No data

Variant related genes	Relation type
ENSG00000236941	TF binding region
ENSG00000248645	TF binding region
NACA3P	TF binding region
ENSG00000199347	chromatin interactions
ENSG00000250486	chromatin interactions

Extended variants
information (count: 328 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71646834	chr4:165861373-165861374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71646833	chr4:165861382-165861383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71641129	chr4:165861385-165861386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569881616	chr4:165861386-165861387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71641128	chr4:165861388-165861389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs71641127	chr4:165861397-165861398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550791213	chr4:165861422-165861423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569172088	chr4:165861424-165861425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117428490	chr4:165861425-165861426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185062274	chr4:165861437-165861438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140672728	chr4:165861451-165861452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149713303	chr4:165861452-165861453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558005602	chr4:165861496-165861497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114303274	chr4:165861498-165861499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533918115	chr4:165861559-165861560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555469420	chr4:165861613-165861614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573795733	chr4:165861620-165861621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4443238	chr4:165861678-165861679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs377320524	chr4:165861684-165861685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371196021	chr4:165861702-165861703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370909633	chr4:165861711-165861712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578090283	chr4:165861740-165861741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190305849	chr4:165861757-165861758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182193899	chr4:165861794-165861795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144773489	chr4:165861802-165861803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527561124	chr4:165861843-165861844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540211682	chr4:165861879-165861880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186719996	chr4:165861923-165861924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528987522	chr4:165861975-165861976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs73000592	chr4:165861986-165861987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375456140	chr4:165862041-165862042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34508937	chr4:165862077-165862078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533116218	chr4:165862099-165862100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570478553	chr4:165862149-165862150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376204026	chr4:165862173-165862174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551421051	chr4:165862250-165862251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138764859	chr4:165862251-165862252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533980985	chr4:165862308-165862309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181213312	chr4:165862377-165862378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567283544	chr4:165862378-165862379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537954989	chr4:165862383-165862384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556590782	chr4:165862408-165862409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367753012	chr4:165862425-165862426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539204633	chr4:165862447-165862448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554193888	chr4:165862454-165862455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572772843	chr4:165862463-165862464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570166875	chr4:165862470-165862471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140367773	chr4:165862524-165862525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561674958	chr4:165862540-165862541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573631787	chr4:165862542-165862543	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:32 , 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	chr4:165861200-165861400	Enhancers	Fetal Muscle Leg	muscle
4	chr4:165864200-165864600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:165864200-165864800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:165864400-165864600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:165864400-165864600	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr4:165864400-165864800	Enhancers	NHEK	skin
9	chr4:165864600-165864800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:165864600-165865000	Enhancers	HSMMtube	muscle
11	chr4:165864600-165865200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr4:165864600-165869200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:165864800-165869000	Weak transcription	Fetal Muscle Leg	muscle
14	chr4:165864800-165869200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:165865800-165867000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:165866200-165866600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:165866200-165866800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:165866200-165866800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr4:165866600-165866800	Enhancers	HMEC	breast
20	chr4:165866600-165868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:165866800-165869200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr4:165866800-165870800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:165867000-165870800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:165867600-165869400	Enhancers	GM12878-XiMat	blood
25	chr4:165869000-165869600	Enhancers	Fetal Muscle Trunk	muscle
26	chr4:165869000-165871200	Enhancers	Fetal Muscle Leg	muscle
27	chr4:165869200-165869400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:165869200-165869400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr4:165869200-165869600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:165869200-165869600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:165869200-165869600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:165869400-165870200	Weak transcription	GM12878-XiMat	blood

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