Variant report

Variant	nsv595285
Chromosome Location	chr4:119117533-119130109
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

Variant related genes	Relation type
FKBP4P1	TF binding region

Extended variants
information (count: 388 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:388 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4833566	chr4:119117533-119117534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144766664	chr4:119117666-119117667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539727514	chr4:119117675-119117676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192061653	chr4:119117689-119117690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182842233	chr4:119117701-119117702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535656787	chr4:119117715-119117716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554204331	chr4:119117752-119117753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574519134	chr4:119117776-119117777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149073812	chr4:119117824-119117825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539575085	chr4:119117842-119117843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187743367	chr4:119117886-119117887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551893512	chr4:119117920-119117921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546115289	chr4:119117959-119117960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559686664	chr4:119118002-119118003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556121540	chr4:119118074-119118075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370191498	chr4:119118082-119118083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376787593	chr4:119118100-119118101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528253144	chr4:119118102-119118103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs59055512	chr4:119118113-119118114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57273623	chr4:119118205-119118206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532669063	chr4:119118232-119118233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199615310	chr4:119118316-119118317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541720237	chr4:119118332-119118333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111472985	chr4:119118339-119118340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572107478	chr4:119118375-119118376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189756497	chr4:119118448-119118449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541581991	chr4:119118505-119118506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551087263	chr4:119118517-119118518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563997459	chr4:119118531-119118532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570750006	chr4:119118566-119118567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570013921	chr4:119118639-119118640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs75017647	chr4:119118673-119118674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs182378667	chr4:119118674-119118675	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs187086164	chr4:119118720-119118721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549189612	chr4:119118754-119118755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs569465310	chr4:119118756-119118757	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs151213600	chr4:119118763-119118764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs557063936	chr4:119118865-119118866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs563264725	chr4:119118877-119118878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576714697	chr4:119118890-119118891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs539447369	chr4:119118910-119118911	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372865150	chr4:119118936-119118937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs371518886	chr4:119118949-119118950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs191939347	chr4:119118985-119118986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185305550	chr4:119119009-119119010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6813615	chr4:119119010-119119011	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs561715905	chr4:119119024-119119025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs367556987	chr4:119119064-119119065	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs544377988	chr4:119119077-119119078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564609449	chr4:119119090-119119091	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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119116000-119121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:119117400-119118600	Weak transcription	Dnd41	blood
4	chr4:119118600-119119600	ZNF genes & repeats	Dnd41	blood
5	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
6	chr4:119121400-119121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:119125800-119127600	Weak transcription	Dnd41	blood
9	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
10	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:119127600-119131200	Strong transcription	Dnd41	blood
12	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:119129000-119130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:119129200-119130400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:119129400-119130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:119129600-119129800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr4:119129800-119130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:119130000-119130400	Weak transcription	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links