Variant report

Variant	esv2763384
Chromosome Location	chr4:110939666-110942596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555489346	chr4:110939682-110939683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56025809	chr4:110939710-110939711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147194305	chr4:110939720-110939721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185252060	chr4:110939724-110939725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566150710	chr4:110939746-110939747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557867266	chr4:110939757-110939758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189645073	chr4:110939767-110939768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543410128	chr4:110939774-110939775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60640078	chr4:110939822-110939823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577046432	chr4:110939825-110939826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563199576	chr4:110939847-110939848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181780047	chr4:110939873-110939874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183838870	chr4:110939903-110939904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140467662	chr4:110939930-110939931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144538194	chr4:110939961-110939962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527878616	chr4:110940003-110940004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140961255	chr4:110940009-110940010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34916630	chr4:110940010-110940011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4698804	chr4:110940045-110940046	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs570594858	chr4:110940074-110940075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144589629	chr4:110940112-110940113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549734688	chr4:110940133-110940134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569853763	chr4:110940136-110940137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28780412	chr4:110940197-110940198	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555361933	chr4:110940225-110940226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188162028	chr4:110940267-110940268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148516681	chr4:110940297-110940298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557904203	chr4:110940322-110940323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577786334	chr4:110940325-110940326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140041772	chr4:110940333-110940334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75045209	chr4:110940364-110940365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556957329	chr4:110940373-110940374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142786604	chr4:110940464-110940465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151075952	chr4:110940476-110940477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375933052	chr4:110940537-110940538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181467444	chr4:110940560-110940561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572634617	chr4:110940579-110940580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541191404	chr4:110940629-110940630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73839504	chr4:110940630-110940631	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186471740	chr4:110940658-110940659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191352654	chr4:110940669-110940670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9993323	chr4:110940706-110940707	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529267031	chr4:110940710-110940711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111644788	chr4:110940715-110940716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181872972	chr4:110940716-110940717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140992607	chr4:110940752-110940753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs33933065	chr4:110940824-110940825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564237718	chr4:110940827-110940828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397966741	chr4:110940829-110940830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185849393	chr4:110940871-110940872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	20688739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16397240	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	16272173	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110930400-110941600	Weak transcription	Fetal Heart	heart
2	chr4:110930800-110941600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:110931000-110941600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr4:110935400-110941200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:110935600-110941200	Weak transcription	Fetal Kidney	kidney
6	chr4:110935800-110941000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:110938200-110941200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:110941000-110941400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:110941000-110941400	Enhancers	HSMM	muscle
10	chr4:110941000-110941600	Enhancers	Fetal Stomach	stomach
11	chr4:110941000-110941800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:110941000-110941800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:110941000-110941800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:110941000-110941800	Enhancers	Fetal Lung	lung
15	chr4:110941000-110942000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:110941000-110942200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:110941000-110942400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:110941000-110942600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:110941200-110941600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:110941200-110941600	Enhancers	NH-A	brain
21	chr4:110941200-110941800	Enhancers	Brain Germinal Matrix	brain
22	chr4:110941200-110941800	Enhancers	Fetal Kidney	kidney
23	chr4:110941200-110941800	Enhancers	HepG2	liver
24	chr4:110941200-110941800	Enhancers	Osteobl	bone
25	chr4:110941200-110942000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:110941200-110942000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr4:110941200-110942200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:110941200-110942400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:110941200-110942600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr4:110941400-110942400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:110941600-110941800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr4:110941600-110941800	Enhancers	Fetal Heart	heart
33	chr4:110941600-110942400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:110941600-110942400	Enhancers	HSMMtube	muscle
35	chr4:110941600-110942800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr4:110941600-110943000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:110941800-110942400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr4:110941800-110943000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:110941800-110945400	Weak transcription	Brain Germinal Matrix	brain
40	chr4:110941800-110946200	Weak transcription	Fetal Lung	lung
41	chr4:110942000-110942200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
42	chr4:110942000-110942400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr4:110942400-110942600	Enhancers	H1 Cell Line	embryonic stem cell
44	chr4:110942400-110942600	Enhancers	H9 Cell Line	embryonic stem cell

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