Variant report

Variant	nsv966365
Chromosome Location	chr4:103853934-103867198
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	chr4:103854368-103854411	LNCaP	prostate:	n/a	n/a
2	FOXA1	chr4:103861442-103861685	T-47D	breast:	n/a	n/a
3	MYC	chr4:103857012-103857094	MCF-7	breast:	n/a	n/a
4	POLR2A	chr4:103857050-103857107	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:103857149-103857238	Gliobla	brain:	n/a	n/a
6	POLR2A	chr4:103857047-103857175	A549	lung:	n/a	n/a
7	POLR2A	chr4:103857041-103857051	MCF-7	breast:	n/a	n/a
8	POLR2A	chr4:103857071-103857117	Gliobla	brain:	n/a	n/a
9	SIN3AK20	chr4:103859180-103859367	H1-hESC	embryonic stem cell:	n/a	n/a
10	SIX5	chr4:103859542-103859743	K562	blood:	n/a	n/a
11	SIX5	chr4:103861745-103861943	K562	blood:	n/a	n/a
12	SPI1	chr4:103863539-103863775	GM12891	blood:	n/a	n/a
13	ZBTB33	chr4:103857365-103857608	K562	blood:	n/a	n/a
14	ZBTB33	chr4:103854006-103854140	HepG2	liver:	n/a	n/a
15	ZBTB33	chr4:103854377-103854644	K562	blood:	n/a	n/a

Variant related genes	Relation type
SLC9B1	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188994518	chr4:103854018-103854019	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs12501737	chr4:103854043-103854044	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs200867309	chr4:103854063-103854064	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs566855991	chr4:103854376-103854377	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34727189	chr4:103854378-103854379	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs3974618	chr4:103854400-103854401	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs201860888	chr4:103854403-103854404	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79750148	chr4:103854414-103854415	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs201300098	chr4:103854432-103854433	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs3974617	chr4:103854440-103854441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186358727	chr4:103854452-103854453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs558914656	chr4:103854468-103854469	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs190996393	chr4:103854485-103854486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs3974616	chr4:103854500-103854501	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs573604005	chr4:103854507-103854508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs3974615	chr4:103854528-103854529	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs3960815	chr4:103854576-103854577	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181017491	chr4:103854590-103854591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186371692	chr4:103854593-103854594	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs368800726	chr4:103856800-103856801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374351222	chr4:103856829-103856830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534402339	chr4:103856836-103856837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74569787	chr4:103856842-103856843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77828967	chr4:103856851-103856852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542543578	chr4:103856869-103856870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201612094	chr4:103856872-103856873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199512821	chr4:103856899-103856900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115661172	chr4:103856939-103856940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572645767	chr4:103856957-103856958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75497833	chr4:103856977-103856978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376834357	chr4:103857000-103857001	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs34369472	chr4:103857001-103857002	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
33	rs370737984	chr4:103857003-103857004	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
34	rs201804494	chr4:103857004-103857005	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
35	rs6533037	chr4:103857022-103857023	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs538125464	chr4:103857044-103857045	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs114034010	chr4:103857063-103857064	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs531692339	chr4:103857072-103857073	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs368947581	chr4:103857100-103857101	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs370192675	chr4:103857115-103857116	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs377502780	chr4:103857144-103857145	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs555340768	chr4:103857146-103857147	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs192356371	chr4:103857147-103857148	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs374475974	chr4:103857165-103857166	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368566193	chr4:103857185-103857186	ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577670780	chr4:103857218-103857219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs371117874	chr4:103857228-103857229	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565734938	chr4:103857408-103857409	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs545163573	chr4:103857443-103857444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs575143492	chr4:103857477-103857478	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103856800-103857000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:103857000-103857200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:103857000-103857200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:103857000-103857200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:103857000-103857200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:103859000-103859200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr4:103859000-103859200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:103859000-103859400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr4:103859000-103859400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:103859000-103859600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr4:103859000-103859600	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links