Variant report

Variant	esv20844
Chromosome Location	chr4:82054064-82055060
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375764129	chr4:82054106-82054107	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs11723204	chr4:82054126-82054127	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs368827920	chr4:82054142-82054143	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs10440436	chr4:82054188-82054189	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148096594	chr4:82054195-82054196	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187326258	chr4:82054202-82054203	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs10857207	chr4:82054207-82054208	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs141829720	chr4:82054275-82054276	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs576384445	chr4:82054300-82054301	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs542228470	chr4:82054322-82054323	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs537504401	chr4:82054394-82054395	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs577302022	chr4:82054402-82054403	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527986082	chr4:82054421-82054422	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs112081476	chr4:82054476-82054477	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs78543833	chr4:82054492-82054493	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs77501759	chr4:82054517-82054518	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs376801648	chr4:82054537-82054538	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs529539329	chr4:82054548-82054549	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs549645405	chr4:82054646-82054647	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs111395754	chr4:82054670-82054671	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs369258395	chr4:82054800-82054801	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377744164	chr4:82054802-82054803	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565640864	chr4:82054813-82054814	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566242190	chr4:82054868-82054869	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558084386	chr4:82054922-82054923	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538289624	chr4:82054947-82054948	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200122976	chr4:82054951-82054952	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138470285	chr4:82054958-82054959	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs72663829	chr4:82054959-82054960	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577552748	chr4:82054972-82054973	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576495297	chr4:82054984-82054985	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11411552	chr4:82055002-82055003	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541879604	chr4:82055011-82055012	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182791840	chr4:82055012-82055013	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551407205	chr4:82055021-82055022	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114160379	chr4:82055053-82055054	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82046000-82058600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:82049000-82057600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:82049800-82054800	Weak transcription	Brain Germinal Matrix	brain
4	chr4:82049800-82065800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:82050200-82055200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:82050400-82054600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:82050400-82056200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:82050600-82062000	Strong transcription	Fetal Intestine Large	intestine
9	chr4:82051600-82054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:82051600-82055200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:82052000-82058800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:82052000-82075000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr4:82052200-82056400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr4:82052200-82059000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:82052400-82074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:82052600-82056600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:82052600-82057200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:82052600-82059200	Weak transcription	Fetal Intestine Small	intestine
19	chr4:82052600-82062800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:82052800-82056200	Strong transcription	NHDF-Ad	bronchial
21	chr4:82052800-82069800	Weak transcription	Fetal Brain Female	brain
22	chr4:82053400-82074800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:82054400-82054600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:82054400-82055800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:82054400-82074400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr4:82054600-82065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:82054600-82075000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:82054800-82055200	Enhancers	Brain Germinal Matrix	brain

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