Variant report

Variant	esv1803976
Chromosome Location	chr4:69282205-69288142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 244 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577716210	chr4:69282212-69282213	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1110398	chr4:69282254-69282255	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs556047912	chr4:69282265-69282266	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560427624	chr4:69282267-69282268	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192887025	chr4:69282278-69282279	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370780272	chr4:69282293-69282294	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542972343	chr4:69282359-69282360	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58246549	chr4:69282379-69282380	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532675328	chr4:69282387-69282388	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150530155	chr4:69282416-69282417	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368340935	chr4:69282432-69282433	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551161636	chr4:69282435-69282436	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564997362	chr4:69282497-69282498	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369860643	chr4:69282516-69282517	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533326625	chr4:69282525-69282526	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546782347	chr4:69282569-69282570	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1110397	chr4:69282582-69282583	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535729817	chr4:69282583-69282584	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185324677	chr4:69282652-69282653	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569126266	chr4:69282656-69282657	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35489050	chr4:69282671-69282672	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs563995350	chr4:69282684-69282685	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557929422	chr4:69282699-69282700	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578041620	chr4:69282709-69282710	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147433396	chr4:69282711-69282712	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374353940	chr4:69282717-69282718	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201583716	chr4:69282741-69282742	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553987141	chr4:69282792-69282793	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529470978	chr4:69282813-69282814	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs573917197	chr4:69282883-69282884	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536737715	chr4:69282920-69282921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62317494	chr4:69282968-69282969	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11312689	chr4:69282970-69282971	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs10582661	chr4:69282980-69282981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574595294	chr4:69282991-69282992	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373842330	chr4:69283003-69283004	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200716903	chr4:69283004-69283005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs71615037	chr4:69283005-69283006	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7684177	chr4:69283006-69283007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs59122350	chr4:69283027-69283028	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200066696	chr4:69283028-69283029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79064142	chr4:69283029-69283030	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs535093011	chr4:69283030-69283031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189145976	chr4:69283031-69283032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs145294577	chr4:69283109-69283110	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs575903594	chr4:69283145-69283146	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs181952243	chr4:69283201-69283202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs564770461	chr4:69283231-69283232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs527379113	chr4:69283274-69283275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4860942	chr4:69283310-69283311	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Lung cancer	18438408	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
Multiple myeloma	16616336	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
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69276400-69283600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:69276800-69283400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:69276800-69284600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69278800-69283400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:69280000-69286000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:69280800-69282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:69280800-69289600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:69282200-69282400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr4:69282200-69282600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:69282200-69282800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:69282200-69282800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:69282200-69282800	Enhancers	HMEC	breast
13	chr4:69282600-69282800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr4:69283400-69288000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr4:69283400-69288000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr4:69283600-69284200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr4:69284200-69285000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:69284600-69287000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr4:69284600-69288000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:69285000-69287800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr4:69285000-69288000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr4:69285400-69286800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
23	chr4:69285600-69286000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:69286000-69286400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:69286000-69286400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:69286000-69287400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
27	chr4:69287000-69288000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:69288000-69291600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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