Variant report

Variant	esv3467216
Chromosome Location	chr4:78267799-78268635
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	chr4:78257188..78259774-chr4:78266144..78268332,2	K562	blood:
2	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 73 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75820344	chr4:78267813-78267814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140491240	chr4:78267879-78267880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529262957	chr4:78267885-78267886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543053161	chr4:78267892-78267893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559490632	chr4:78267897-78267898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562687292	chr4:78267903-78267904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550456700	chr4:78267934-78267935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373858162	chr4:78267938-78267939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551679893	chr4:78267939-78267940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571486087	chr4:78267950-78267951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112021932	chr4:78267952-78267953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181434591	chr4:78268022-78268023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79549997	chr4:78268038-78268039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77165781	chr4:78268043-78268044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186061536	chr4:78268064-78268065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190282648	chr4:78268066-78268067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114851007	chr4:78268107-78268108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558109091	chr4:78268138-78268139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61169633	chr4:78268141-78268142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139073585	chr4:78268151-78268152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149907078	chr4:78268176-78268177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181928330	chr4:78268178-78268179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542763253	chr4:78268194-78268195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs10000660	chr4:78268196-78268197	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10002978	chr4:78268215-78268216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17002564	chr4:78268226-78268227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs565280407	chr4:78268262-78268263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2194119	chr4:78268280-78268281	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs73827154	chr4:78268338-78268339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113464981	chr4:78268352-78268353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572123112	chr4:78268364-78268365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534393273	chr4:78268367-78268368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187566735	chr4:78268368-78268369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548824840	chr4:78268379-78268380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80221769	chr4:78268396-78268397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199699536	chr4:78268411-78268412	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs190643524	chr4:78268432-78268433	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182148934	chr4:78268433-78268434	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571614941	chr4:78268482-78268483	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144867184	chr4:78268540-78268541	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs185179386	chr4:78268555-78268556	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149870376	chr4:78268560-78268561	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs573776909	chr4:78268566-78268567	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs58695394	chr4:78268578-78268579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561730308	chr4:78268581-78268582	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574376265	chr4:78268600-78268601	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs553225913	chr4:78268601-78268602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs113871366	chr4:78268606-78268607	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs386357080	chr4:78268607-78268608	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115807013	chr4:78268620-78268621	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78265400-78270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78266200-78270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78266400-78269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78266600-78269800	Weak transcription	HMEC	breast
5	chr4:78267400-78269800	Enhancers	Fetal Intestine Small	intestine
6	chr4:78267400-78270000	Enhancers	Stomach Mucosa	stomach
7	chr4:78267400-78270200	Enhancers	Fetal Intestine Large	intestine
8	chr4:78267600-78268800	Enhancers	Pancreas	Pancrea
9	chr4:78268000-78268400	Enhancers	HepG2	liver
10	chr4:78268200-78269200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:78268400-78268600	Enhancers	Colonic Mucosa	Colon
12	chr4:78268400-78268800	Enhancers	A549	lung
13	chr4:78268400-78268800	Flanking Active TSS	HepG2	liver
14	chr4:78268400-78269000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:78268400-78269000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:78268400-78269400	Enhancers	Duodenum Mucosa	Duodenum

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