Variant report

Variant	esv3451010
Chromosome Location	chr4:120159940-120160997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr4:120159045-120159946	GM12878	blood:	n/a	n/a
2	STAT3	chr4:120160907-120160972	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120132950..120135145-chr4:120157017..120160702,4	MCF-7	breast:
2	chr4:120158506..120160403-chr4:120160643..120163574,2	MCF-7	breast:
3	chr4:120158506..120160403-chr4:120160643..120163574,2	MCF-7	breast:
4	chr4:120133904..120136281-chr4:120160209..120162488,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP53-1	chr4:120160373-120160496	NONHSAT098037
2	lnc-USP53-1	chr4:120160373-120160467	NONHSAT098039

No data

Variant related genes	Relation type
USP53	TF binding region
ENSG00000178636	chromatin interactions
ENSG00000145390	chromatin interactions

Extended variants
information (count: 26 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74516697	chr4:120160124-120160125	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs536153838	chr4:120160159-120160160	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs549453037	chr4:120160236-120160237	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569545938	chr4:120160238-120160239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116050803	chr4:120160272-120160273	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs528685477	chr4:120160312-120160313	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs556313626	chr4:120160340-120160341	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs199550094	chr4:120160367-120160368	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs578009937	chr4:120160451-120160452	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs140456747	chr4:120160456-120160457	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs398107913	chr4:120160463-120160464	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs534060236	chr4:120160505-120160506	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs141430476	chr4:120160530-120160531	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572746521	chr4:120160614-120160615	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191638520	chr4:120160659-120160660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541709862	chr4:120160672-120160673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559109762	chr4:120160673-120160674	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75896930	chr4:120160688-120160689	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575496956	chr4:120160869-120160870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376020107	chr4:120160875-120160876	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368618955	chr4:120160879-120160880	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543833629	chr4:120160920-120160921	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372405059	chr4:120160926-120160927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs375688789	chr4:120160953-120160954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554098947	chr4:120160960-120160961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548222230	chr4:120160993-120160994	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	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
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120134800-120170000	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:120135000-120170400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120135000-120195800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr4:120135200-120163600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:120135200-120176200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:120135200-120176200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr4:120135400-120194600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr4:120135600-120173800	Weak transcription	Brain Anterior Caudate	brain
9	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
10	chr4:120139400-120165800	Weak transcription	Fetal Kidney	kidney
11	chr4:120140600-120167400	Weak transcription	Colonic Mucosa	Colon
12	chr4:120141000-120192400	Weak transcription	Hela-S3	cervix
13	chr4:120143000-120167200	Weak transcription	Placenta	Placenta
14	chr4:120143000-120176200	Weak transcription	Esophagus	oesophagus
15	chr4:120143800-120167000	Weak transcription	Fetal Intestine Large	intestine
16	chr4:120146000-120178600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:120152200-120167200	Weak transcription	Pancreas	Pancrea
19	chr4:120153800-120160600	Weak transcription	HSMM	muscle
20	chr4:120154800-120161800	Weak transcription	A549	lung
21	chr4:120155000-120166200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:120155200-120161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:120155200-120163400	Weak transcription	Brain Hippocampus Middle	brain
24	chr4:120155200-120167000	Weak transcription	NH-A	brain
25	chr4:120155400-120160600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:120155400-120160600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:120155400-120165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:120155400-120165800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:120155400-120166400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:120155400-120167200	Weak transcription	Aorta	Aorta
31	chr4:120155400-120167200	Weak transcription	Fetal Thymus	thymus
32	chr4:120155400-120167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr4:120155400-120169800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:120155400-120169800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:120155400-120169800	Weak transcription	Ovary	ovary
36	chr4:120155400-120176200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:120155400-120176400	Weak transcription	Right Ventricle	heart
38	chr4:120155600-120165800	Weak transcription	HSMMtube	muscle
39	chr4:120155600-120169800	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:120155600-120173800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr4:120155600-120176400	Weak transcription	Brain Substantia Nigra	brain
42	chr4:120155600-120186000	Weak transcription	Fetal Heart	heart
43	chr4:120155800-120163800	Strong transcription	NHDF-Ad	bronchial
44	chr4:120156200-120162400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:120156200-120165200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:120156200-120167200	Weak transcription	Psoas Muscle	Psoas
47	chr4:120156600-120163000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:120156800-120167200	Weak transcription	Fetal Intestine Small	intestine
49	chr4:120156800-120167200	Weak transcription	Fetal Stomach	stomach
50	chr4:120157000-120170000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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