Variant report

Variant	esv275267
Chromosome Location	chr4:79443674-79445639
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	chr4:79442586..79444586-chr4:79481129..79483159,2	K562	blood:
2	chr4:79438376..79441238-chr4:79442395..79444872,3	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559684720	chr4:79443703-79443704	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs931604	chr4:79443774-79443775	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142022558	chr4:79443778-79443779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183886250	chr4:79443785-79443786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549590134	chr4:79443831-79443832	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs931605	chr4:79443837-79443838	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs370549736	chr4:79443849-79443850	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs931606	chr4:79443850-79443851	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs537642354	chr4:79443859-79443860	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs202198985	chr4:79443878-79443879	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549513493	chr4:79443906-79443907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371381574	chr4:79443960-79443961	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs376073429	chr4:79443972-79443973	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377751457	chr4:79443981-79443982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199786207	chr4:79443982-79443983	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1496598	chr4:79444029-79444030	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs571649660	chr4:79444036-79444037	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11731315	chr4:79444043-79444044	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs369268888	chr4:79444067-79444068	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1496599	chr4:79444103-79444104	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574042003	chr4:79444113-79444114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535295858	chr4:79444145-79444146	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73828013	chr4:79444146-79444147	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs572025300	chr4:79444157-79444158	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534062792	chr4:79444161-79444162	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112392388	chr4:79444195-79444196	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11736504	chr4:79444270-79444271	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543544824	chr4:79444283-79444284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115662663	chr4:79444311-79444312	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150662989	chr4:79444377-79444378	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549331062	chr4:79444416-79444417	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138912626	chr4:79444417-79444418	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559950624	chr4:79444473-79444474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6829018	chr4:79444474-79444475	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs552078736	chr4:79444475-79444476	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373869674	chr4:79444545-79444546	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181402826	chr4:79444577-79444578	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116482249	chr4:79444582-79444583	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13118549	chr4:79444602-79444603	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs536717949	chr4:79444607-79444608	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115910774	chr4:79444616-79444617	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377480297	chr4:79444624-79444625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565516565	chr4:79444645-79444646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78113580	chr4:79444673-79444674	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186040528	chr4:79444798-79444799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577828358	chr4:79444799-79444800	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543053250	chr4:79444821-79444822	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190540482	chr4:79444822-79444823	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143105015	chr4:79444825-79444826	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542690906	chr4:79444846-79444847	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
renal disease	20603712	CNVD
Tracheal agenesis	20877625	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21990379	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
4	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
5	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
7	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:79404200-79450200	Weak transcription	HMEC	breast
9	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:79420400-79445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:79421800-79445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:79426800-79455000	Weak transcription	Esophagus	oesophagus
13	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:79428600-79449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:79430200-79456000	Weak transcription	Aorta	Aorta
17	chr4:79430200-79456000	Weak transcription	Pancreas	Pancrea
18	chr4:79430600-79451400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:79430800-79454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:79432200-79448600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:79435400-79447200	Weak transcription	Fetal Kidney	kidney
22	chr4:79435600-79455600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:79435600-79463000	Weak transcription	Fetal Heart	heart
24	chr4:79435600-79467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:79437200-79446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:79439800-79444000	Strong transcription	HepG2	liver
27	chr4:79439800-79450200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:79440000-79451000	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr4:79440200-79446000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:79440200-79448600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:79440200-79448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:79440600-79465800	Weak transcription	Lung	lung
33	chr4:79440600-79467200	Weak transcription	Left Ventricle	heart
34	chr4:79440800-79456200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:79441400-79446200	Weak transcription	Fetal Intestine Small	intestine
36	chr4:79441600-79447000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79442400-79449000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:79442400-79465600	Weak transcription	Fetal Stomach	stomach
39	chr4:79442600-79447000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:79442600-79450600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:79443000-79448600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:79443200-79443800	Strong transcription	Fetal Lung	lung
43	chr4:79443600-79445400	Strong transcription	HSMMtube	muscle
44	chr4:79443600-79446600	Strong transcription	Fetal Intestine Large	intestine
45	chr4:79443600-79447600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:79443800-79445200	Weak transcription	Fetal Lung	lung
47	chr4:79444000-79444800	Weak transcription	HepG2	liver
48	chr4:79444800-79445800	Strong transcription	HepG2	liver
49	chr4:79444800-79447000	Enhancers	K562	blood
50	chr4:79444800-79472400	Weak transcription	Right Atrium	heart

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