Variant report

Variant	esv3386540
Chromosome Location	chr4:78738050-78738352
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	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:
2	chr4:78731203..78732890-chr4:78737622..78739382,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112799826	chr4:78738082-78738083	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs1814033	chr4:78738089-78738090	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs377261195	chr4:78738096-78738097	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs150496927	chr4:78738106-78738107	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541847297	chr4:78738131-78738132	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189648384	chr4:78738136-78738137	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572129407	chr4:78738140-78738141	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541224066	chr4:78738141-78738142	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530686003	chr4:78738156-78738157	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549362752	chr4:78738204-78738205	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559907783	chr4:78738228-78738229	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114290476	chr4:78738282-78738283	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
lymphocytic leukemia	21291569	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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78718800-78738600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:78722200-78738600	Weak transcription	HSMM	muscle
3	chr4:78722600-78738600	Weak transcription	NHEK	skin
4	chr4:78722600-78739000	Weak transcription	Ovary	ovary
5	chr4:78722600-78739200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:78722800-78738600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:78723000-78738600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:78723200-78738600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:78724400-78738600	Weak transcription	Colonic Mucosa	Colon
10	chr4:78724800-78738600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:78725800-78738600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:78728600-78738600	Weak transcription	Psoas Muscle	Psoas
13	chr4:78728800-78738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr4:78730400-78738600	Weak transcription	K562	blood
15	chr4:78732200-78738600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:78732400-78738600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:78732800-78738800	Weak transcription	Lung	lung
18	chr4:78733200-78738600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:78733600-78738600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:78734800-78738600	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:78735600-78738400	Enhancers	HepG2	liver
22	chr4:78735600-78738600	Enhancers	Liver	Liver
23	chr4:78735800-78738600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:78735800-78738600	Weak transcription	Fetal Kidney	kidney
25	chr4:78735800-78738800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:78736400-78738600	Enhancers	Primary hematopoietic stem cells	blood
27	chr4:78736400-78738600	Weak transcription	A549	lung
28	chr4:78736600-78738600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:78736600-78738800	Enhancers	Primary B cells from cord blood	blood
30	chr4:78736600-78739200	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr4:78736800-78738600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:78736800-78738800	Weak transcription	Brain Germinal Matrix	brain
33	chr4:78737000-78738200	Weak transcription	HUVEC	blood vessel
34	chr4:78737000-78738400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr4:78737000-78738600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:78737000-78738600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:78737000-78738600	Weak transcription	Right Ventricle	heart
38	chr4:78737000-78738600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr4:78737000-78738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:78737000-78738800	Weak transcription	Aorta	Aorta
41	chr4:78737000-78738800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:78737000-78738800	Weak transcription	Esophagus	oesophagus
43	chr4:78737000-78738800	Weak transcription	Fetal Brain Male	brain
44	chr4:78737000-78738800	Weak transcription	Fetal Brain Female	brain
45	chr4:78737000-78738800	Weak transcription	Fetal Muscle Leg	muscle
46	chr4:78737000-78738800	Weak transcription	Small Intestine	intestine
47	chr4:78737000-78738800	Weak transcription	Spleen	Spleen
48	chr4:78737000-78742400	Active TSS	Thymus	Thymus
49	chr4:78737200-78738600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:78737200-78738600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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