Variant report

Variant	esv3351002
Chromosome Location	chr4:90739963-90741840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2737021	chr4:90739992-90739993	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570550166	chr4:90740070-90740071	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2583965	chr4:90740103-90740104	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183595909	chr4:90740186-90740187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140350691	chr4:90740251-90740252	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186897161	chr4:90740267-90740268	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192056103	chr4:90740356-90740357	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144313722	chr4:90740357-90740358	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544120714	chr4:90740365-90740366	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559153271	chr4:90740395-90740396	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183942433	chr4:90740456-90740457	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567511880	chr4:90740517-90740518	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186711330	chr4:90740589-90740590	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564738616	chr4:90740728-90740729	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191125291	chr4:90740736-90740737	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541828513	chr4:90740778-90740779	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs147342746	chr4:90740804-90740805	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs139049978	chr4:90740831-90740832	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs113001988	chr4:90740868-90740869	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs552164939	chr4:90740877-90740878	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs2737020	chr4:90740878-90740879	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182545898	chr4:90740882-90740883	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs187191539	chr4:90740883-90740884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191651029	chr4:90740886-90740887	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs535503393	chr4:90740915-90740916	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs545827606	chr4:90740950-90740951	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557036683	chr4:90741033-90741034	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs149952390	chr4:90741106-90741107	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs145130848	chr4:90741132-90741133	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs35038172	chr4:90741180-90741181	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs149083750	chr4:90741273-90741274	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs534337792	chr4:90741279-90741280	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs201320000	chr4:90741352-90741353	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564178607	chr4:90741435-90741436	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs35001620	chr4:90741507-90741508	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs546549020	chr4:90741518-90741519	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2583966	chr4:90741519-90741520	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs574629916	chr4:90741546-90741547	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs185311810	chr4:90741547-90741548	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs146726833	chr4:90741549-90741550	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190123319	chr4:90741562-90741563	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs141277719	chr4:90741573-90741574	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs377755404	chr4:90741581-90741582	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546756745	chr4:90741591-90741592	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564245063	chr4:90741681-90741682	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528341292	chr4:90741682-90741683	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2619341	chr4:90741773-90741774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548229925	chr4:90741795-90741796	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3775461	chr4:90741803-90741804	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529047796	chr4:90741828-90741829	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	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
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Parkinson disease	20733075	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90714800-90740400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:90718800-90748000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:90719000-90747600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr4:90722200-90751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:90722400-90741200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:90722600-90741400	Weak transcription	HMEC	breast
7	chr4:90723000-90741400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:90727000-90743200	Weak transcription	Fetal Lung	lung
9	chr4:90729000-90741600	Weak transcription	NHEK	skin
10	chr4:90730200-90757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:90730800-90757000	Weak transcription	Fetal Stomach	stomach
12	chr4:90731600-90743000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:90732600-90741200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:90734600-90743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:90734800-90740800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:90734800-90750600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:90735400-90749600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:90735800-90741200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:90735800-90755600	Weak transcription	Fetal Brain Male	brain
20	chr4:90736000-90743200	Weak transcription	Ovary	ovary
21	chr4:90736200-90750600	Weak transcription	Fetal Thymus	thymus
22	chr4:90737400-90740200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:90738000-90750800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:90738000-90755800	Weak transcription	Fetal Brain Female	brain
25	chr4:90738200-90750400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:90738200-90750800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:90738400-90745400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:90738400-90750400	Weak transcription	Brain Anterior Caudate	brain
29	chr4:90738400-90750600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:90738400-90756600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:90739400-90743800	Genic enhancers	HUVEC	blood vessel
32	chr4:90739600-90743800	Strong transcription	Dnd41	blood
33	chr4:90739600-90744400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:90739600-90750600	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:90739800-90740600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr4:90740000-90750600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:90740200-90742400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:90740200-90742800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr4:90740400-90740600	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:90740400-90740800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr4:90740600-90742600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr4:90740600-90750400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:90740800-90741600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:90740800-90744200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:90741200-90741400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:90741200-90741600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:90741200-90742400	Enhancers	Fetal Heart	heart
48	chr4:90741200-90742600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:90741400-90741600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:90741400-90741600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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