Variant report

Variant	nsv966561
Chromosome Location	chr4:119115482-119130733
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	CTCF	chr4:119121361-119121425	Kidney_OC	kidney:	n/a	n/a
2	FAM48A	chr4:119128616-119128917	GM12878	blood:	n/a	n/a
3	MAFK	chr4:119130682-119130819	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:119115800-119115852	Gliobla	brain:	n/a	n/a
5	POLR2A	chr4:119115897-119115968	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
FKBP4P1	TF binding region

Extended variants
information (count: 487 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:487 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115419567	chr4:119115483-119115484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561538282	chr4:119115488-119115489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs148781687	chr4:119115537-119115538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs541030230	chr4:119115547-119115548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs28740899	chr4:119115649-119115650	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575229356	chr4:119115671-119115672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs544005137	chr4:119115679-119115680	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs563889769	chr4:119115727-119115728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs577402543	chr4:119115734-119115735	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs115291256	chr4:119115744-119115745	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530024507	chr4:119115759-119115760	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs527252772	chr4:119115764-119115765	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141526068	chr4:119115765-119115766	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560820668	chr4:119115779-119115780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs372882066	chr4:119115830-119115831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs529917752	chr4:119115831-119115832	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs1523746	chr4:119115853-119115854	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs544731863	chr4:119115859-119115860	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs569824652	chr4:119115860-119115861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs1523745	chr4:119115880-119115881	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs552596515	chr4:119115881-119115882	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs566309647	chr4:119115882-119115883	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1523744	chr4:119115912-119115913	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs115997623	chr4:119115917-119115918	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs574918619	chr4:119115918-119115919	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs186056421	chr4:119115941-119115942	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs557413197	chr4:119115946-119115947	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs34419266	chr4:119115959-119115960	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577317727	chr4:119116022-119116023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs546089503	chr4:119116082-119116083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs571344728	chr4:119116093-119116094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs571829276	chr4:119116100-119116101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs78945399	chr4:119116122-119116123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs188653129	chr4:119116132-119116133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs533827440	chr4:119116199-119116200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs560533102	chr4:119116231-119116232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28567841	chr4:119116287-119116288	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181400471	chr4:119116299-119116300	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560943375	chr4:119116301-119116302	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs563438008	chr4:119116315-119116316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs532295567	chr4:119116320-119116321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372260004	chr4:119116343-119116344	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12498683	chr4:119116388-119116389	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs539622313	chr4:119116414-119116415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10014402	chr4:119116419-119116420	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535101805	chr4:119116432-119116433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548739239	chr4:119116467-119116468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568460266	chr4:119116485-119116486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567310747	chr4:119116532-119116533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139421807	chr4:119116634-119116635	Weak transcription	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:36 , 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	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119114000-119116400	ZNF genes & repeats	Dnd41	blood
4	chr4:119115200-119116000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:119116000-119121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:119116400-119117000	Weak transcription	Dnd41	blood
7	chr4:119117000-119117400	Strong transcription	Dnd41	blood
8	chr4:119117400-119118600	Weak transcription	Dnd41	blood
9	chr4:119118600-119119600	ZNF genes & repeats	Dnd41	blood
10	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
11	chr4:119121400-119121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:119125800-119127600	Weak transcription	Dnd41	blood
14	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
15	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:119127600-119131200	Strong transcription	Dnd41	blood
17	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:119129600-119129800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr4:119130200-119130600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:119130400-119131400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr4:119130400-119131600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:119130600-119130800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr4:119130600-119131200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr4:119130600-119131400	Enhancers	HUES48 Cell Line	embryonic stem cell

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