Variant report

Variant	nsv980250
Chromosome Location	chr4:119114295-119115982
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	POLR2A	chr4:119115800-119115852	Gliobla	brain:	n/a	n/a
2	POLR2A	chr4:119114503-119114714	ProgFib	skin:	n/a	n/a
3	POLR2A	chr4:119114533-119114553	Gliobla	brain:	n/a	n/a
4	POLR2A	chr4:119115897-119115968	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
FKBP4P1	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188786447	chr4:119114321-119114322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs541776421	chr4:119114387-119114388	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs79073302	chr4:119114417-119114418	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs4240320	chr4:119114424-119114425	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs58703298	chr4:119114466-119114467	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192112017	chr4:119114493-119114494	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531169146	chr4:119114565-119114566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs551374381	chr4:119114610-119114611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573987858	chr4:119114629-119114630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs185569181	chr4:119114670-119114671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79984068	chr4:119114691-119114692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553690126	chr4:119114703-119114704	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs567118365	chr4:119114704-119114705	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs529583019	chr4:119114711-119114712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534030355	chr4:119114724-119114725	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs56307714	chr4:119114741-119114742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs71608351	chr4:119114748-119114749	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs577123634	chr4:119114763-119114764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370280218	chr4:119114773-119114774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs190449622	chr4:119114828-119114829	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114063606	chr4:119114858-119114859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs572386196	chr4:119114863-119114864	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs546194081	chr4:119114872-119114873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs144336747	chr4:119114922-119114923	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs561615811	chr4:119114966-119114967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548026323	chr4:119115014-119115015	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs180828674	chr4:119115028-119115029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576234783	chr4:119115099-119115100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs544040346	chr4:119115123-119115124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs562410307	chr4:119115155-119115156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531413209	chr4:119115195-119115196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551220846	chr4:119115202-119115203	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs17049656	chr4:119115234-119115235	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs56339949	chr4:119115246-119115247	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs547239163	chr4:119115263-119115264	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370856338	chr4:119115297-119115298	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536005729	chr4:119115312-119115313	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556343609	chr4:119115331-119115332	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs12505156	chr4:119115366-119115367	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs539108106	chr4:119115438-119115439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs115419567	chr4:119115483-119115484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561538282	chr4:119115488-119115489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs148781687	chr4:119115537-119115538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs541030230	chr4:119115547-119115548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs28740899	chr4:119115649-119115650	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575229356	chr4:119115671-119115672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs544005137	chr4:119115679-119115680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs563889769	chr4:119115727-119115728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577402543	chr4:119115734-119115735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs115291256	chr4:119115744-119115745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Esophageal squamous carcinoma	18350619	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Esophageal cancer	21851588	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119105200-119117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:119110600-119114600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:119114000-119116400	ZNF genes & repeats	Dnd41	blood
5	chr4:119114600-119114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:119114800-119115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:119115200-119116000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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