Variant report

Variant	esv3416618
Chromosome Location	chr4:129181482-129188750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 284 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533460415	chr4:129181491-129181492	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs545114726	chr4:129181500-129181501	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149814035	chr4:129181526-129181527	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184892289	chr4:129181565-129181566	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189568580	chr4:129181593-129181594	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180798055	chr4:129181621-129181622	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561334607	chr4:129181638-129181639	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547242485	chr4:129181649-129181650	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2101808	chr4:129181660-129181661	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547127436	chr4:129181676-129181677	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144428958	chr4:129181695-129181696	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538872311	chr4:129181696-129181697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549672792	chr4:129181707-129181708	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147985792	chr4:129181735-129181736	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115889114	chr4:129181739-129181740	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568488081	chr4:129181765-129181766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141648700	chr4:129181770-129181771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554259622	chr4:129181803-129181804	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185944224	chr4:129181821-129181822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537456396	chr4:129181823-129181824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190862525	chr4:129181836-129181837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115268620	chr4:129181837-129181838	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544474476	chr4:129181850-129181851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563567854	chr4:129181875-129181876	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575728125	chr4:129181950-129181951	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114090210	chr4:129181954-129181955	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561372896	chr4:129181958-129181959	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181102985	chr4:129181966-129181967	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546916641	chr4:129181998-129181999	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150530386	chr4:129182002-129182003	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532719949	chr4:129182029-129182030	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139891271	chr4:129182078-129182079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533948415	chr4:129182090-129182091	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186380284	chr4:129182098-129182099	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190491639	chr4:129182131-129182132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547736141	chr4:129182148-129182149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56056542	chr4:129182160-129182161	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566237149	chr4:129182166-129182167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375657009	chr4:129182174-129182175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550054353	chr4:129182211-129182212	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533917413	chr4:129182254-129182255	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533885414	chr4:129182260-129182261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572404649	chr4:129182268-129182269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558500003	chr4:129182351-129182352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576953227	chr4:129182391-129182392	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537609758	chr4:129182405-129182406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556522367	chr4:129182438-129182439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553417516	chr4:129182443-129182444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182986628	chr4:129182479-129182480	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143365280	chr4:129182480-129182481	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129173800-129207400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:129178600-129190000	Weak transcription	NHDF-Ad	bronchial
3	chr4:129181200-129181600	Enhancers	Placenta	Placenta
4	chr4:129181400-129182600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129183200-129183400	Enhancers	Fetal Brain Male	brain
6	chr4:129183400-129191200	Weak transcription	Fetal Brain Male	brain
7	chr4:129184600-129206200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:129185800-129186600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:129186000-129187200	ZNF genes & repeats	Placenta	Placenta
10	chr4:129186000-129188000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:129186200-129186600	Enhancers	A549	lung
12	chr4:129186400-129186600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr4:129186400-129191000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:129186600-129187600	Weak transcription	A549	lung
15	chr4:129186600-129191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129186800-129190200	Weak transcription	Osteobl	bone
17	chr4:129186800-129190800	Weak transcription	HUVEC	blood vessel
18	chr4:129187200-129190000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:129187200-129190000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:129187200-129190800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:129187200-129191200	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:129187200-129191200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:129187200-129191200	Weak transcription	Fetal Thymus	thymus
24	chr4:129187400-129190000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:129187400-129190400	Weak transcription	Adipose Nuclei	Adipose
26	chr4:129187400-129190600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:129187400-129190600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:129187400-129191200	Weak transcription	Liver	Liver
29	chr4:129187600-129187800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:129187600-129187800	Enhancers	Ovary	ovary
31	chr4:129187600-129188400	Enhancers	Fetal Intestine Large	intestine
32	chr4:129187600-129188400	Enhancers	A549	lung
33	chr4:129187600-129188400	Enhancers	HepG2	liver
34	chr4:129187600-129188800	Enhancers	Stomach Mucosa	stomach
35	chr4:129187800-129188200	Enhancers	Fetal Intestine Small	intestine
36	chr4:129187800-129191000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr4:129187800-129191000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr4:129187800-129191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:129187800-129206400	Weak transcription	Ovary	ovary
40	chr4:129187800-129206600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:129187800-129207200	Weak transcription	Aorta	Aorta
42	chr4:129188000-129189800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:129188000-129190200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:129188000-129190600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:129188000-129190600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr4:129188000-129190800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:129188000-129190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:129188000-129191000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:129188000-129191000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:129188000-129191200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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