Variant report

Variant	esv3339376
Chromosome Location	chr4:73830113-73833061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:73831662-73831942	A549	lung:	n/a	n/a
2	CEBPB	chr4:73831647-73831941	K562	blood:	n/a	n/a
3	EBF1	chr4:73830549-73830745	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:73832060..73834957-chr4:73837760..73840547,2	K562	blood:

Variant related genes	Relation type
RNU4ATAC9P	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11930322	chr4:73830116-73830117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532369565	chr4:73830149-73830150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544155216	chr4:73830163-73830164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536613922	chr4:73830175-73830176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372278272	chr4:73830195-73830196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181575942	chr4:73830238-73830239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555109975	chr4:73830253-73830254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76867420	chr4:73830275-73830276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141061054	chr4:73830296-73830297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528588324	chr4:73830345-73830346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547138110	chr4:73830348-73830349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57639620	chr4:73830418-73830419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559146974	chr4:73830430-73830431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116314388	chr4:73830436-73830437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186278131	chr4:73830484-73830485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144781611	chr4:73830515-73830516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554626461	chr4:73830560-73830561	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs544874168	chr4:73830574-73830575	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572939786	chr4:73830589-73830590	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs117853831	chr4:73830620-73830621	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs188494771	chr4:73830640-73830641	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs576958332	chr4:73830659-73830660	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544433570	chr4:73830665-73830666	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs562399053	chr4:73830677-73830678	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs181313881	chr4:73830678-73830679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs185829309	chr4:73830688-73830689	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs113909738	chr4:73830695-73830696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs374384258	chr4:73830746-73830747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191124154	chr4:73830823-73830824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571760564	chr4:73830827-73830828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182690983	chr4:73830828-73830829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532587380	chr4:73830887-73830888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76302065	chr4:73830913-73830914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375108625	chr4:73830921-73830922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200664837	chr4:73830940-73830941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138623343	chr4:73830947-73830948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34779391	chr4:73830972-73830973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536960888	chr4:73830982-73830983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555334806	chr4:73831006-73831007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544384405	chr4:73831049-73831050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560968789	chr4:73831055-73831056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533829699	chr4:73831063-73831064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115667116	chr4:73831084-73831085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148907839	chr4:73831155-73831156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143432576	chr4:73831215-73831216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555964950	chr4:73831232-73831233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111966465	chr4:73831248-73831249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115985272	chr4:73831259-73831260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34080573	chr4:73831266-73831267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201432008	chr4:73831272-73831273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Non-small cell lung cancer	21829676	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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Abnormal phenotypes	18644119	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:73825400-73835600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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