Variant report

Variant	esv3337184
Chromosome Location	chr4:143180627-143181017
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149366943	chr4:143180637-143180638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563784234	chr4:143180649-143180650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116186051	chr4:143180736-143180737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370260722	chr4:143180742-143180743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376287110	chr4:143180744-143180745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368475109	chr4:143180745-143180746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141438673	chr4:143180747-143180748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71957973	chr4:143180758-143180759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574868277	chr4:143180761-143180762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552488738	chr4:143180806-143180807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570553693	chr4:143180832-143180833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112922561	chr4:143180845-143180846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2636644	chr4:143180877-143180878	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531632517	chr4:143180904-143180905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201628280	chr4:143180923-143180924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535036526	chr4:143180935-143180936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116603170	chr4:143180951-143180952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113423468	chr4:143180965-143180966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575439991	chr4:143180989-143180990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539654058	chr4:143180991-143180992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2627835	chr4:143181009-143181010	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

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
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
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
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Renal cell carcinoma	20952505	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143058000-143181000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:143135400-143184200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:143151000-143185000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:143153800-143181000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr4:143159200-143181000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:143159200-143181000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:143160600-143185000	Weak transcription	HMEC	breast
8	chr4:143160600-143186400	Weak transcription	HSMM	muscle
9	chr4:143164400-143181000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:143164600-143186000	Weak transcription	HSMMtube	muscle
11	chr4:143170400-143181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:143171000-143185600	Weak transcription	NHDF-Ad	bronchial
13	chr4:143171000-143185800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:143171000-143186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:143171200-143182000	Weak transcription	A549	lung
16	chr4:143171600-143182600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:143173200-143181000	Weak transcription	NHEK	skin
18	chr4:143173200-143184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr4:143174400-143180800	Weak transcription	Primary T cells from cord blood	blood
20	chr4:143174400-143181000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr4:143174400-143183400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:143174400-143183400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr4:143174400-143185000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:143174600-143180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:143174600-143181000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:143174600-143181000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:143174600-143182600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr4:143174600-143186000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:143174600-143190200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:143175000-143181000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:143175200-143181000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:143179000-143181000	Weak transcription	Dnd41	blood
33	chr4:143179200-143186000	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:143179400-143182600	Weak transcription	Fetal Intestine Small	intestine
35	chr4:143179400-143186000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:143179600-143186000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr4:143179800-143191000	Weak transcription	Colonic Mucosa	Colon
38	chr4:143180000-143182400	Weak transcription	Fetal Intestine Large	intestine
39	chr4:143180000-143182800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:143180200-143185000	Weak transcription	Psoas Muscle	Psoas
41	chr4:143180400-143181600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:143180600-143181000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:143180800-143181000	Weak transcription	Left Ventricle	heart
44	chr4:143180800-143181200	Weak transcription	Right Ventricle	heart
45	chr4:143180800-143181600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr4:143180800-143181800	Strong transcription	Primary T cells from cord blood	blood
47	chr4:143181000-143181200	ZNF genes & repeats	NHEK	skin
48	chr4:143181000-143181400	ZNF genes & repeats	Left Ventricle	heart
49	chr4:143181000-143181600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:143181000-143181600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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