Variant report

Variant	esv3416466
Chromosome Location	chr4:96790179-96792127
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	chr4:96791240-96791451	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F4	chr4:96792032-96792329	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFF	chr4:96790269-96790501	HepG2	liver:	n/a	chr4:96790395-96790413
4	MAFF	chr4:96790268-96790432	K562	blood:	n/a	chr4:96790395-96790413
5	MAFK	chr4:96790262-96790558	HepG2	liver:	n/a	n/a
6	MAFK	chr4:96790345-96790499	IMR90	lung:	n/a	n/a
7	RAD21	chr4:96791136-96791445	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU6-1059P	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560450787	chr4:96790196-96790197	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs148117266	chr4:96790199-96790200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542502305	chr4:96790210-96790211	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372647464	chr4:96790242-96790243	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs72874508	chr4:96790251-96790252	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531379481	chr4:96790286-96790287	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs544774870	chr4:96790298-96790299	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115119016	chr4:96790311-96790312	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs527342371	chr4:96790317-96790318	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs184913299	chr4:96790384-96790385	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs567253688	chr4:96790421-96790422	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs566510504	chr4:96790431-96790432	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs143890705	chr4:96790440-96790441	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs549684560	chr4:96790447-96790448	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs35388399	chr4:96790500-96790501	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs533749908	chr4:96790560-96790561	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs374257328	chr4:96790562-96790563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114208683	chr4:96790564-96790565	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs3975033	chr4:96790575-96790576	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs145724366	chr4:96790584-96790585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143071160	chr4:96790589-96790590	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs70948454	chr4:96790591-96790592	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs3975032	chr4:96790592-96790593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs565383394	chr4:96790593-96790594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs550970699	chr4:96790607-96790608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs181551695	chr4:96790611-96790612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs60799268	chr4:96790621-96790622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554013374	chr4:96790624-96790625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140558322	chr4:96790636-96790637	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs144402314	chr4:96790640-96790641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs60433708	chr4:96790679-96790680	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs575895505	chr4:96790694-96790695	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs544908554	chr4:96790713-96790714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560396494	chr4:96790810-96790811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112787813	chr4:96790812-96790813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186604556	chr4:96790829-96790830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527706328	chr4:96790835-96790836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149884457	chr4:96790843-96790844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529692961	chr4:96790881-96790882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202086438	chr4:96790882-96790883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376963961	chr4:96790907-96790908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370187652	chr4:96790908-96790909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144875458	chr4:96790911-96790912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3975031	chr4:96790928-96790929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149061775	chr4:96790929-96790930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531995834	chr4:96790934-96790935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551832662	chr4:96790947-96790948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567112146	chr4:96790954-96790955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28636556	chr4:96790956-96790957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10701393	chr4:96790964-96790965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96788600-96790800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:96790800-96791200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:96790800-96791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:96791200-96791600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:96791200-96791600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:96791200-96791600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:96791400-96791600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:96791400-96791600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:96791400-96791800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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