Variant report

Variant	esv2763369
Chromosome Location	chr4:79229435-79232154
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79231967..79234042-chr4:79240266..79243102,2	K562	blood:
2	chr4:79169561..79170479-chr4:79230995..79231833,2	MCF-7	breast:
3	chr4:79232089..79232591-chr4:79437995..79438547,2	MCF-7	breast:
4	chr4:79169550..79170466-chr4:79230990..79231892,2	MCF-7	breast:

Extended variants
information (count: 112 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41537644	chr4:79229435-79229436	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572033188	chr4:79229497-79229498	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184863890	chr4:79229509-79229510	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557342786	chr4:79229513-79229514	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188061202	chr4:79229572-79229573	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543026772	chr4:79229594-79229595	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139078775	chr4:79229595-79229596	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376102120	chr4:79229597-79229598	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573618499	chr4:79229608-79229609	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12505887	chr4:79229609-79229610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559938458	chr4:79229614-79229615	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376096999	chr4:79229665-79229666	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528804219	chr4:79229666-79229667	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180967655	chr4:79229727-79229728	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114273403	chr4:79229817-79229818	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530964007	chr4:79229838-79229839	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540193830	chr4:79229855-79229856	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185136969	chr4:79229900-79229901	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375485943	chr4:79229988-79229989	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567765233	chr4:79229995-79229996	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76278486	chr4:79230005-79230006	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144010273	chr4:79230042-79230043	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565500279	chr4:79230044-79230045	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375163421	chr4:79230045-79230046	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534502545	chr4:79230046-79230047	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557655497	chr4:79230052-79230053	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577841778	chr4:79230057-79230058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs537064111	chr4:79230062-79230063	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556653335	chr4:79230091-79230092	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189722982	chr4:79230159-79230160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562923435	chr4:79230166-79230167	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115602024	chr4:79230202-79230203	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181279217	chr4:79230205-79230206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112280041	chr4:79230217-79230218	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377437746	chr4:79230221-79230222	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573523871	chr4:79230223-79230224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545597169	chr4:79230258-79230259	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs370244262	chr4:79230260-79230261	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs77768610	chr4:79230266-79230267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72657049	chr4:79230272-79230273	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532069385	chr4:79230346-79230347	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191741919	chr4:79230361-79230362	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548892808	chr4:79230433-79230434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183305162	chr4:79230448-79230449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73827964	chr4:79230475-79230476	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561082120	chr4:79230514-79230515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530145557	chr4:79230539-79230540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72866304	chr4:79230550-79230551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs345527	chr4:79230568-79230569	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534539210	chr4:79230582-79230583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
5	chr4:79218600-79230000	Weak transcription	Fetal Kidney	kidney
6	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:79220400-79246600	Weak transcription	HMEC	breast
8	chr4:79220600-79229800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:79220600-79234200	Weak transcription	HSMMtube	muscle
10	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
11	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79221000-79237400	Weak transcription	Fetal Heart	heart
13	chr4:79221000-79240000	Weak transcription	Psoas Muscle	Psoas
14	chr4:79221200-79229800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:79221200-79229800	Weak transcription	Fetal Lung	lung
16	chr4:79221200-79231200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:79221200-79232600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
20	chr4:79228600-79229800	Strong transcription	Fetal Intestine Small	intestine
21	chr4:79228800-79230000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:79229000-79229600	Genic enhancers	H1 Cell Line	embryonic stem cell
23	chr4:79229000-79229600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:79229000-79229800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:79229000-79231000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:79229000-79232000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79229000-79233200	Strong transcription	HepG2	liver
28	chr4:79229200-79229600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr4:79229200-79229800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:79229200-79229800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:79229200-79229800	Strong transcription	Fetal Stomach	stomach
32	chr4:79229200-79230000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:79229200-79230000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:79229200-79230000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:79229200-79230800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:79229200-79231200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:79229200-79233200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:79229400-79229800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:79229400-79231800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:79229600-79229800	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr4:79229600-79230200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr4:79229600-79230200	Enhancers	Pancreas	Pancrea
45	chr4:79229600-79231800	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr4:79229600-79232400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:79229800-79230000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:79229800-79230000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:79229800-79230000	Strong transcription	Fetal Lung	lung
50	chr4:79229800-79230200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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