Variant report

Variant	esv3400295
Chromosome Location	chr4:165875177-165875495
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	chr4:165874581..165877460-chr4:165878651..165880772,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192530768	chr4:165875177-165875178	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76852934	chr4:165875183-165875184	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542503774	chr4:165875237-165875238	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567915507	chr4:165875261-165875262	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200209485	chr4:165875276-165875277	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557791878	chr4:165875302-165875303	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572722811	chr4:165875312-165875313	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533904874	chr4:165875352-165875353	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139794503	chr4:165875358-165875359	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28544252	chr4:165875359-165875360	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543992669	chr4:165875375-165875376	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149369015	chr4:165875376-165875377	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144719802	chr4:165875379-165875380	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544874199	chr4:165875407-165875408	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530740168	chr4:165875426-165875427	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558825580	chr4:165875444-165875445	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560548564	chr4:165875450-165875451	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575693009	chr4:165875451-165875452	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114249943	chr4:165875457-165875458	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184518745	chr4:165875474-165875475	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165871000-165877800	Weak transcription	Spleen	Spleen
2	chr4:165871200-165877600	Weak transcription	GM12878-XiMat	blood
3	chr4:165874000-165877800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:165874000-165878000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:165874200-165877800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:165874800-165875200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:165875000-165875200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:165875000-165875400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:165875000-165875600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:165875200-165875600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:165875400-165877600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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