Variant report

Variant	nsv292010
Chromosome Location	chr4:143757442-143757872
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:143757278..143761783-chr4:143763336..143768943,6	MCF-7	breast:
2	chr4:143393242..143395860-chr4:143757386..143759845,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181635021	chr4:143757445-143757446	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs72369870	chr4:143757455-143757456	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186770365	chr4:143757582-143757583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs75578396	chr4:143757583-143757584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111263404	chr4:143757586-143757587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs191285837	chr4:143757615-143757616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549238993	chr4:143757628-143757629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567453279	chr4:143757636-143757637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17016828	chr4:143757682-143757683	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs76454822	chr4:143757687-143757688	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182799149	chr4:143757692-143757693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs554006038	chr4:143757739-143757740	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs202153859	chr4:143757748-143757749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571524902	chr4:143757751-143757752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374299909	chr4:143757851-143757852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7663475	chr4:143757864-143757865	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138777384	chr4:143757872-143757873	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143740200-143765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143750600-143760000	Weak transcription	Left Ventricle	heart
3	chr4:143750800-143762200	Weak transcription	Fetal Heart	heart
4	chr4:143753800-143761000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr4:143756600-143758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143756600-143761000	Weak transcription	Dnd41	blood
7	chr4:143757000-143757600	Enhancers	Stomach Smooth Muscle	stomach
8	chr4:143757200-143759000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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