Variant report

Variant	nsv528104
Chromosome Location	chr4:122285263-122291522
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	CEBPB	chr4:122288309-122288515	HepG2	liver:	n/a	chr4:122288383-122288394
2	CTCF	chr4:122290900-122291050	NHDF-neo	bronchial:	n/a	n/a
3	CTCF	chr4:122291220-122291370	HPAF	blood vessel:	n/a	n/a
4	CTCF	chr4:122291020-122291170	GM12864	blood:	n/a	n/a
5	CTCF	chr4:122290640-122290708	Fibrobl	skin:	n/a	n/a
6	CTCF	chr4:122291260-122291410	AG09319	gingival:	n/a	n/a
7	CTCF	chr4:122291340-122291490	SAEC	small airway:	n/a	n/a
8	CTCF	chr4:122291394-122291460	GM12891	blood:	n/a	n/a
9	CTCF	chr4:122291234-122291270	GM12891	blood:	n/a	n/a
10	CTCF	chr4:122291408-122291472	GM19240	blood:	n/a	n/a
11	CTCF	chr4:122291220-122291370	GM12865	blood:	n/a	n/a
12	GATA3	chr4:122287890-122287995	SH-SY5Y	brain:	n/a	n/a
13	JUND	chr4:122287740-122287840	HepG2	liver:	n/a	n/a
14	MAFK	chr4:122287721-122287990	HepG2	liver:	n/a	n/a
15	POLR2A	chr4:122291409-122291418	Gliobla	brain:	n/a	n/a
16	POLR2A	chr4:122291373-122291406	Gliobla	brain:	n/a	n/a
17	STAT3	chr4:122289554-122289705	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr4:122288726-122288991	MCF10A-Er-Src	breast:	n/a	chr4:122288855-122288866
19	STAT3	chr4:122287187-122287286	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF384	chr4:122286114-122286218	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TNIP3-2	chr4:122290588-122291500	NONHSAT098140

Variant related genes	Relation type
ENSG00000213480	TF binding region

Extended variants
information (count: 267 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17051344	chr4:122285263-122285264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372618940	chr4:122285273-122285274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184173330	chr4:122285297-122285298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs691192	chr4:122285315-122285316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs546183696	chr4:122285319-122285320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112869663	chr4:122285336-122285337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367555579	chr4:122285348-122285349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116766621	chr4:122285352-122285353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372266707	chr4:122285365-122285366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188922320	chr4:122285378-122285379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375229469	chr4:122285414-122285415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181663724	chr4:122285449-122285450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367751922	chr4:122285470-122285471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs691182	chr4:122285480-122285481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373073840	chr4:122285509-122285510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550900369	chr4:122285521-122285522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570815796	chr4:122285546-122285547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375111704	chr4:122285560-122285561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575757976	chr4:122285594-122285595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs520057	chr4:122285614-122285615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186282447	chr4:122285624-122285625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191523540	chr4:122285628-122285629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535567651	chr4:122285634-122285635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555502258	chr4:122285639-122285640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373314531	chr4:122285661-122285662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575553115	chr4:122285665-122285666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544429894	chr4:122285673-122285674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372605868	chr4:122285717-122285718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11722208	chr4:122285728-122285729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs564644404	chr4:122285731-122285732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540122959	chr4:122285743-122285744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533638907	chr4:122285752-122285753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566181222	chr4:122285794-122285795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35353604	chr4:122285795-122285796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs692689	chr4:122285848-122285849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs568068764	chr4:122285867-122285868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58852363	chr4:122285868-122285869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs561833936	chr4:122285967-122285968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180753753	chr4:122286023-122286024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs885103	chr4:122286068-122286069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535494562	chr4:122286113-122286114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549850592	chr4:122286130-122286131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533716550	chr4:122286144-122286145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546957713	chr4:122286157-122286158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566511011	chr4:122286195-122286196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535099023	chr4:122286292-122286293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56225168	chr4:122286341-122286342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186131058	chr4:122286361-122286362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79663809	chr4:122286364-122286365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537912928	chr4:122286383-122286384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122282200-122294000	Weak transcription	HMEC	breast
2	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:122287600-122288400	Enhancers	Left Ventricle	heart
4	chr4:122290600-122290800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links