Variant report

Variant	esv3437373
Chromosome Location	chr4:89866629-89867727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4416442	chr4:89866713-89866714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs544417018	chr4:89866791-89866792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562813563	chr4:89866803-89866804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs193231524	chr4:89866810-89866811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371128113	chr4:89866812-89866813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529413885	chr4:89866815-89866816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559917367	chr4:89866821-89866822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2704594	chr4:89866859-89866860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527242041	chr4:89866869-89866870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185693073	chr4:89866876-89866877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529791447	chr4:89866895-89866896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189528487	chr4:89866928-89866929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13135630	chr4:89866932-89866933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146789971	chr4:89866934-89866935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146354160	chr4:89866951-89866952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535689832	chr4:89866985-89866986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552740338	chr4:89866987-89866988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550746864	chr4:89866995-89866996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199669630	chr4:89866999-89867000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180766108	chr4:89867027-89867028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2464524	chr4:89867031-89867032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539765374	chr4:89867041-89867042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185328964	chr4:89867064-89867065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7687920	chr4:89867129-89867130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9684935	chr4:89867135-89867136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7687931	chr4:89867137-89867138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9684936	chr4:89867139-89867140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7440403	chr4:89867141-89867142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199936059	chr4:89867142-89867143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200668381	chr4:89867143-89867144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9683569	chr4:89867145-89867146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9683570	chr4:89867147-89867148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201757233	chr4:89867149-89867150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199974656	chr4:89867151-89867152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374389142	chr4:89867155-89867156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs367969285	chr4:89867157-89867158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28376243	chr4:89867165-89867166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs28758578	chr4:89867167-89867168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573166122	chr4:89867349-89867350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534151774	chr4:89867357-89867358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149708979	chr4:89867367-89867368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569751795	chr4:89867377-89867378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114928391	chr4:89867389-89867390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373568453	chr4:89867429-89867430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs78080938	chr4:89867461-89867462	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113701071	chr4:89867462-89867463	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs577886370	chr4:89867492-89867493	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs561417117	chr4:89867520-89867521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113280338	chr4:89867542-89867543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs181438543	chr4:89867543-89867544	Weak transcription ZNF genes & repeats	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
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:89850200-89878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:89851400-89883600	Weak transcription	Fetal Intestine Large	intestine
4	chr4:89852400-89885000	Weak transcription	Fetal Lung	lung
5	chr4:89852600-89877800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:89852600-89879200	Weak transcription	Fetal Stomach	stomach
7	chr4:89852600-89879400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:89856200-89869200	Weak transcription	Left Ventricle	heart
9	chr4:89856400-89872000	Weak transcription	Aorta	Aorta
10	chr4:89857000-89867800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr4:89857800-89867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:89857800-89868200	Weak transcription	Placenta	Placenta
13	chr4:89857800-89869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:89857800-89872000	Weak transcription	Pancreas	Pancrea
15	chr4:89857800-89879400	Weak transcription	Lung	lung
16	chr4:89859600-89867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:89859600-89872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:89859600-89877800	Weak transcription	Fetal Intestine Small	intestine
19	chr4:89860000-89867600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:89861600-89873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:89861600-89874600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:89863000-89874600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:89864000-89867400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:89864400-89881400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr4:89864800-89870400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:89865400-89869200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:89865400-89870200	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr4:89865400-89874600	Weak transcription	Primary T cells from cord blood	blood
29	chr4:89865600-89870800	Weak transcription	Ovary	ovary
30	chr4:89865600-89878400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:89865800-89870400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:89866000-89866800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:89866400-89866800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:89866400-89866800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr4:89866400-89866800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:89866600-89867600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:89866600-89869400	Weak transcription	Fetal Kidney	kidney
38	chr4:89867400-89867600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr4:89867400-89868200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:89867600-89868000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr4:89867600-89868000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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