Variant report

Variant	esv3370310
Chromosome Location	chr4:120472620-120472913
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:120451722..120454309-chr4:120472350..120475109,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533013061	chr4:120472692-120472693	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559632227	chr4:120472709-120472710	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148509214	chr4:120472729-120472730	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571723642	chr4:120472738-120472739	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10016736	chr4:120472789-120472790	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2306457	chr4:120472839-120472840	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs201358321	chr4:120472862-120472863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200161795	chr4:120472863-120472864	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs398063965	chr4:120472865-120472866	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142765943	chr4:120472893-120472894	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Renal cell carcinoma	18194544	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120377600-120501200	Weak transcription	Pancreas	Pancrea
2	chr4:120420200-120485400	Weak transcription	Fetal Brain Male	brain
3	chr4:120434600-120474400	Weak transcription	Gastric	stomach
4	chr4:120435000-120473200	Weak transcription	Esophagus	oesophagus
5	chr4:120435000-120487600	Weak transcription	Colonic Mucosa	Colon
6	chr4:120436200-120473800	Weak transcription	Fetal Brain Female	brain
7	chr4:120436800-120474000	Weak transcription	Thymus	Thymus
8	chr4:120437600-120474200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:120437800-120479200	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:120438200-120484800	Weak transcription	Brain Anterior Caudate	brain
11	chr4:120439400-120474200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:120440000-120474000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:120440600-120478200	Weak transcription	Primary B cells from cord blood	blood
14	chr4:120441200-120476200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:120442200-120474200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:120442800-120484600	Weak transcription	Psoas Muscle	Psoas
17	chr4:120447400-120484800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:120448000-120484800	Weak transcription	Fetal Heart	heart
19	chr4:120449400-120473600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr4:120451600-120485200	Weak transcription	Brain Angular Gyrus	brain
21	chr4:120455600-120483800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:120456200-120488800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:120456400-120473000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:120456400-120484400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr4:120456400-120484800	Weak transcription	Liver	Liver
26	chr4:120456600-120473800	Weak transcription	Fetal Thymus	thymus
27	chr4:120456600-120484600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:120456600-120484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:120458200-120484600	Weak transcription	Fetal Intestine Small	intestine
30	chr4:120459400-120485400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:120459400-120491600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:120459600-120474200	Weak transcription	Adipose Nuclei	Adipose
33	chr4:120460200-120474200	Weak transcription	Fetal Kidney	kidney
34	chr4:120463200-120484800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr4:120463200-120485600	Weak transcription	Ovary	ovary
36	chr4:120463600-120481200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:120463800-120484800	Weak transcription	Left Ventricle	heart
38	chr4:120463800-120485400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:120463800-120485400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:120464000-120482600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:120465000-120481000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:120465000-120489600	Weak transcription	Lung	lung
43	chr4:120465200-120477400	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:120465400-120477200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:120470200-120479400	Strong transcription	Osteobl	bone
46	chr4:120470400-120472800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:120470400-120480800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr4:120470800-120472800	Strong transcription	Fetal Intestine Large	intestine
49	chr4:120470800-120473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:120471000-120472800	Strong transcription	Fetal Lung	lung

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