Variant report

Variant	esv10951
Chromosome Location	chr4:79421607-79431447
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	chr4:78976661..78978805-chr4:79430192..79432122,2	MCF-7	breast:
2	chr4:79416303..79418445-chr4:79420211..79422344,2	K562	blood:

Variant related genes	Relation type
ENSG00000138759	chromatin interactions

Extended variants
information (count: 421 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17003289	chr4:79421622-79421623	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17003290	chr4:79421677-79421678	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs572046004	chr4:79421680-79421681	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182546921	chr4:79421686-79421687	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1496585	chr4:79421698-79421699	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1496586	chr4:79421720-79421721	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565373277	chr4:79421722-79421723	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533192418	chr4:79421746-79421747	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549698243	chr4:79421770-79421771	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17429053	chr4:79421801-79421802	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs1496587	chr4:79421830-79421831	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs1496588	chr4:79421963-79421964	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186273693	chr4:79421992-79421993	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13107007	chr4:79422033-79422034	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs13132231	chr4:79422036-79422037	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4975135	chr4:79422054-79422055	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2867447	chr4:79422073-79422074	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs71661170	chr4:79422168-79422169	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2867449	chr4:79422169-79422170	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373117680	chr4:79422192-79422193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191093913	chr4:79422243-79422244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2867450	chr4:79422253-79422254	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs2867451	chr4:79422282-79422283	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs576262263	chr4:79422286-79422287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147568397	chr4:79422392-79422393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182802125	chr4:79422411-79422412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142618199	chr4:79422414-79422415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563342531	chr4:79422428-79422429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2867452	chr4:79422440-79422441	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs199795258	chr4:79422469-79422470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375625242	chr4:79422473-79422474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565635125	chr4:79422480-79422481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151298059	chr4:79422530-79422531	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2867453	chr4:79422562-79422563	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570881777	chr4:79422569-79422570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111389755	chr4:79422570-79422571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2867454	chr4:79422587-79422588	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541666685	chr4:79422601-79422602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550607722	chr4:79422676-79422677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567802196	chr4:79422686-79422687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11724180	chr4:79422723-79422724	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs553727947	chr4:79422736-79422737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60438529	chr4:79422741-79422742	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs60028211	chr4:79422749-79422750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs56941652	chr4:79422750-79422751	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs559723033	chr4:79422772-79422773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575550357	chr4:79422805-79422806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529150728	chr4:79422806-79422807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60285643	chr4:79422827-79422828	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs114635920	chr4:79422839-79422840	Weak transcription Strong transcription	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
5	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
6	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
8	chr4:79402000-79427600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:79403200-79428000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:79403800-79428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79404000-79427200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:79404200-79450200	Weak transcription	HMEC	breast
14	chr4:79404400-79431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:79408600-79435000	Weak transcription	Fetal Heart	heart
16	chr4:79410200-79428000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:79410200-79443600	Weak transcription	HSMMtube	muscle
18	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:79410400-79428800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:79410800-79439800	Weak transcription	Fetal Lung	lung
21	chr4:79411000-79428000	Weak transcription	Fetal Kidney	kidney
22	chr4:79411600-79428600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:79418000-79437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:79418200-79431200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:79420200-79422200	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr4:79420200-79423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79420400-79445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:79420600-79422200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:79420600-79422200	Strong transcription	HepG2	liver
30	chr4:79420800-79422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79420800-79422000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:79420800-79423000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:79421000-79422000	Strong transcription	Fetal Intestine Large	intestine
34	chr4:79421400-79421800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:79421400-79422200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr4:79421600-79428000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr4:79421800-79445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:79422000-79426600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:79422000-79428000	Weak transcription	Fetal Intestine Large	intestine
40	chr4:79422000-79428400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:79422200-79426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:79422200-79427200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:79422200-79428000	Weak transcription	HepG2	liver
44	chr4:79422200-79428600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:79423000-79427200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:79423000-79428600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:79426600-79427000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:79426800-79455000	Weak transcription	Esophagus	oesophagus
49	chr4:79427000-79428000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr4:79427200-79427800	Enhancers	H1 Cell Line	embryonic stem cell

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