Variant report

Variant	esv17647
Chromosome Location	chr4:79218331-79218938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149411022	chr4:79218392-79218393	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181338177	chr4:79218411-79218412	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561925116	chr4:79218418-79218419	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534364977	chr4:79218433-79218434	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs184351228	chr4:79218450-79218451	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115774533	chr4:79218472-79218473	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1825417	chr4:79218496-79218497	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs537271333	chr4:79218504-79218505	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs111855871	chr4:79218514-79218515	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs199811087	chr4:79218549-79218550	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs62309861	chr4:79218660-79218661	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34304637	chr4:79218702-79218703	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs528958313	chr4:79218710-79218711	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs57078733	chr4:79218735-79218736	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145557364	chr4:79218760-79218761	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73827959	chr4:79218775-79218776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs534950958	chr4:79218787-79218788	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs551926463	chr4:79218837-79218838	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs139645929	chr4:79218853-79218854	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs78891286	chr4:79218863-79218864	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368726853	chr4:79218877-79218878	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73827960	chr4:79218899-79218900	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Pancreatic cancer	17952125	CNVD
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79188600-79218400	Weak transcription	Aorta	Aorta
2	chr4:79198600-79220200	Weak transcription	Pancreas	Pancrea
3	chr4:79198600-79221000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:79208400-79220800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:79208400-79229200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79210600-79218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:79214000-79220200	Weak transcription	Fetal Intestine Small	intestine
10	chr4:79214000-79220200	Weak transcription	Psoas Muscle	Psoas
11	chr4:79214000-79223400	Weak transcription	Colon Smooth Muscle	Colon
12	chr4:79215600-79219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:79215600-79219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:79215600-79219800	Weak transcription	NHEK	skin
15	chr4:79215600-79220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:79215600-79220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:79215600-79220200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:79215600-79223000	Weak transcription	Fetal Brain Male	brain
19	chr4:79215600-79229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:79215800-79220000	Weak transcription	HMEC	breast
21	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
23	chr4:79216000-79219000	Weak transcription	HSMM	muscle
24	chr4:79217200-79218600	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr4:79217200-79218600	Flanking Active TSS	Fetal Lung	lung
26	chr4:79217200-79222200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79217400-79218600	Enhancers	Fetal Stomach	stomach
28	chr4:79217400-79218600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr4:79217400-79219000	Enhancers	Adipose Nuclei	Adipose
30	chr4:79217600-79218400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:79217600-79218600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:79217600-79218600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:79217600-79218600	Enhancers	Fetal Muscle Leg	muscle
34	chr4:79217600-79222200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:79217800-79218400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:79217800-79218400	Genic enhancers	Fetal Kidney	kidney
37	chr4:79217800-79218600	Enhancers	Fetal Heart	heart
38	chr4:79217800-79218600	Flanking Active TSS	GM12878-XiMat	blood
39	chr4:79217800-79218600	Enhancers	HSMMtube	muscle
40	chr4:79217800-79219800	Weak transcription	HepG2	liver
41	chr4:79217800-79221400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:79218000-79218400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr4:79218000-79218400	Enhancers	NHLF	lung
44	chr4:79218000-79218600	Enhancers	Hela-S3	cervix
45	chr4:79218000-79218600	Enhancers	NH-A	brain
46	chr4:79218000-79219600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:79218000-79220000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:79218000-79220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:79218000-79220200	Weak transcription	Lung	lung
50	chr4:79218000-79224600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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