Variant report

Variant	esv3331261
Chromosome Location	chr4:129990655-129991653
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367599372	chr4:129990656-129990657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368147760	chr4:129990657-129990658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372390056	chr4:129990658-129990659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143352477	chr4:129990659-129990660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148367072	chr4:129990666-129990667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35442325	chr4:129990669-129990670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200025632	chr4:129990670-129990671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375559537	chr4:129990716-129990717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547389425	chr4:129990724-129990725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2777823	chr4:129990743-129990744	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs539758952	chr4:129990750-129990751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551758694	chr4:129990789-129990790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570308973	chr4:129990858-129990859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112771563	chr4:129990860-129990861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372601124	chr4:129990873-129990874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555919317	chr4:129990899-129990900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375666998	chr4:129990910-129990911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77951722	chr4:129990928-129990929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115325856	chr4:129990932-129990933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574790327	chr4:129990967-129990968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531113639	chr4:129990968-129990969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577678985	chr4:129990978-129990979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112500755	chr4:129990994-129990995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183721409	chr4:129990996-129990997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575483015	chr4:129991002-129991003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs138124986	chr4:129991003-129991004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560701951	chr4:129991042-129991043	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs529355713	chr4:129991049-129991050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs550930374	chr4:129991074-129991075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547450167	chr4:129991079-129991080	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559342235	chr4:129991124-129991125	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189505785	chr4:129991147-129991148	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs149535664	chr4:129991164-129991165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181566788	chr4:129991168-129991169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539563776	chr4:129991194-129991195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs549316942	chr4:129991199-129991200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567823000	chr4:129991205-129991206	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534725280	chr4:129991213-129991214	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552958648	chr4:129991218-129991219	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs372294015	chr4:129991225-129991226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553079078	chr4:129991250-129991251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs144185629	chr4:129991260-129991261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186745593	chr4:129991288-129991289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191643807	chr4:129991289-129991290	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs148503691	chr4:129991293-129991294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs535483212	chr4:129991294-129991295	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181631276	chr4:129991403-129991404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs186327690	chr4:129991413-129991414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs572672817	chr4:129991415-129991416	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs58689608	chr4:129991464-129991465	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129977200-130000600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:129983000-129994000	Weak transcription	Fetal Kidney	kidney
3	chr4:129983000-130001600	Weak transcription	Fetal Heart	heart
4	chr4:129985000-129991800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:129985000-130000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr4:129985000-130000000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:129985000-130000000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr4:129985000-130000200	Weak transcription	Brain Hippocampus Middle	brain
9	chr4:129985200-129992800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:129985200-129993800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:129985200-129993800	Weak transcription	Fetal Thymus	thymus
12	chr4:129985200-129993800	Weak transcription	Thymus	Thymus
13	chr4:129985200-129994000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:129985200-129994000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:129985200-129994000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129985200-129994000	Weak transcription	Left Ventricle	heart
17	chr4:129985200-129994000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:129985200-129994000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:129985200-129994200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:129985200-129994200	Weak transcription	Esophagus	oesophagus
21	chr4:129985200-129994200	Weak transcription	K562	blood
22	chr4:129985200-129997200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:129985200-129999000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:129985200-130000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:129985200-130000000	Weak transcription	Fetal Stomach	stomach
26	chr4:129985200-130000200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:129985200-130000600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:129985200-130000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:129985200-130000600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:129985200-130000600	Weak transcription	Placenta	Placenta
31	chr4:129985200-130000600	Weak transcription	Gastric	stomach
32	chr4:129985200-130000600	Weak transcription	Lung	lung
33	chr4:129985200-130000600	Weak transcription	Ovary	ovary
34	chr4:129985200-130000600	Weak transcription	Spleen	Spleen
35	chr4:129985200-130001000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:129985200-130001200	Weak transcription	Small Intestine	intestine
37	chr4:129985200-130002200	Weak transcription	Pancreas	Pancrea
38	chr4:129985200-130012200	Weak transcription	HSMM	muscle
39	chr4:129985200-130013000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:129985200-130013200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:129985400-129993200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:129985600-129993200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:129986600-130000800	Weak transcription	Osteobl	bone
44	chr4:129986600-130001000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:129987000-130011600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr4:129987200-129994000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:129987400-130000600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:129987600-130000600	Weak transcription	NHLF	lung
49	chr4:129989200-129994000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:129989200-129994000	Weak transcription	Aorta	Aorta

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