Variant report

Variant	nsv980512
Chromosome Location	chr4:122361338-122372596
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	ARID3A	chr4:122369407-122369765	HepG2	liver:	n/a	n/a
2	CBX3	chr4:122369301-122369870	HCT-116	colon:	n/a	n/a
3	CEBPB	chr4:122369204-122369938	HCT-116	colon:	n/a	n/a
4	CTCF	chr4:122363714-122363743	GM10266	blood:	n/a	n/a
5	FOS	chr4:122369420-122369827	MCF10A-Er-Src	breast:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
6	FOS	chr4:122369397-122369776	MCF10A-Er-Src	breast:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
7	FOS	chr4:122369406-122369801	MCF10A-Er-Src	breast:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
8	FOS	chr4:122369459-122369724	MCF10A-Er-Src	breast:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
9	FOSL1	chr4:122369149-122370001	HCT-116	colon:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
10	FOSL1	chr4:122369228-122369949	HCT-116	colon:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
11	FOSL2	chr4:122369357-122369736	HepG2	liver:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
12	HNF4A	chr4:122369378-122369715	HepG2	liver:	n/a	chr4:122369591-122369606 chr4:122369541-122369554 chr4:122369591-122369606 chr4:122369542-122369555 chr4:122369541-122369556 chr4:122369539-122369557 chr4:122369591-122369606 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369540-122369555 chr4:122369589-122369607 chr4:122369541-122369556 chr4:122369590-122369605 chr4:122369547-122369555 chr4:122369541-122369555 chr4:122369543-122369555 chr4:122369541-122369554 chr4:122369541-122369555 chr4:122369541-122369556 chr4:122369541-122369554 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369591-122369606
13	HNF4A	chr4:122369397-122369768	HepG2	liver:	n/a	chr4:122369591-122369606 chr4:122369541-122369554 chr4:122369591-122369606 chr4:122369542-122369555 chr4:122369541-122369556 chr4:122369539-122369557 chr4:122369591-122369606 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369540-122369555 chr4:122369589-122369607 chr4:122369541-122369556 chr4:122369590-122369605 chr4:122369547-122369555 chr4:122369541-122369555 chr4:122369543-122369555 chr4:122369541-122369554 chr4:122369541-122369555 chr4:122369541-122369556 chr4:122369541-122369554 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369591-122369606
14	HNF4G	chr4:122369388-122369690	HepG2	liver:	n/a	chr4:122369591-122369606 chr4:122369541-122369554 chr4:122369591-122369606 chr4:122369542-122369555 chr4:122369541-122369556 chr4:122369539-122369557 chr4:122369591-122369606 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369589-122369607 chr4:122369541-122369556 chr4:122369539-122369554 chr4:122369547-122369555 chr4:122369541-122369555 chr4:122369543-122369555 chr4:122369541-122369554 chr4:122369541-122369555 chr4:122369541-122369556 chr4:122369541-122369554 chr4:122369541-122369556 chr4:122369542-122369554 chr4:122369591-122369606
15	JUN	chr4:122369503-122369710	HepG2	liver:	n/a	chr4:122369559-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
16	JUND	chr4:122369283-122370000	HCT-116	colon:	n/a	chr4:122369559-122369569 chr4:122369558-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
17	JUND	chr4:122369311-122369948	HCT-116	colon:	n/a	chr4:122369559-122369569 chr4:122369558-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
18	JUND	chr4:122369407-122369607	HepG2	liver:	n/a	chr4:122369559-122369569 chr4:122369558-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
19	JUND	chr4:122369408-122369743	HepG2	liver:	n/a	chr4:122369559-122369569 chr4:122369558-122369569 chr4:122369559-122369569 chr4:122369560-122369568 chr4:122369561-122369572 chr4:122369559-122369569 chr4:122369559-122369569
20	MAFK	chr4:122364437-122364513	HepG2	liver:	n/a	n/a
21	MYC	chr4:122369458-122369687	MCF10A-Er-Src	breast:	n/a	n/a
22	NFIC	chr4:122369318-122369764	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:122369411-122369671	HCT-116	colon:	n/a	n/a
24	POLR2A	chr4:122369323-122369764	HCT-116	colon:	n/a	n/a
25	SP1	chr4:122369287-122369924	HCT-116	colon:	n/a	n/a
26	SP1	chr4:122369220-122369960	HCT-116	colon:	n/a	n/a
27	STAT3	chr4:122369516-122369686	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr4:122369464-122369664	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF7L2	chr4:122369356-122369894	HCT-116	colon:	n/a	chr4:122369559-122369568
30	YY1	chr4:122369362-122369674	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
TUBB4BP5	TF binding region

Extended variants
information (count: 485 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:485 , 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	rs10010429	chr4:122361381-122361382	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568017373	chr4:122361385-122361386	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs536907320	chr4:122361453-122361454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12644995	chr4:122361480-122361481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12645047	chr4:122361485-122361486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186506630	chr4:122361515-122361516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558999360	chr4:122361544-122361545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112042423	chr4:122361567-122361568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10022468	chr4:122361570-122361571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140884769	chr4:122361601-122361602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577184829	chr4:122361631-122361632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17051353	chr4:122361659-122361660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs189387347	chr4:122361666-122361667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563302851	chr4:122361734-122361735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532120038	chr4:122361772-122361773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552030066	chr4:122361874-122361875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28409572	chr4:122361926-122361927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528128938	chr4:122361993-122361994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368091428	chr4:122361997-122361998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567882184	chr4:122362012-122362013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73843716	chr4:122362017-122362018	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs550444124	chr4:122362031-122362032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34379496	chr4:122362064-122362065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569991199	chr4:122362118-122362119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539020170	chr4:122362147-122362148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558631852	chr4:122362256-122362257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547996034	chr4:122362258-122362259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535084332	chr4:122362292-122362293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370303273	chr4:122362342-122362343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528636279	chr4:122362351-122362352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555220580	chr4:122362365-122362366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374407348	chr4:122362427-122362428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372589163	chr4:122362431-122362432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544163825	chr4:122362447-122362448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11943942	chr4:122362482-122362483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs576813161	chr4:122362490-122362491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138958550	chr4:122362504-122362505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140746605	chr4:122362517-122362518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199710769	chr4:122362520-122362521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541498356	chr4:122362567-122362568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386679081	chr4:122362600-122362601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180968384	chr4:122362602-122362603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373461486	chr4:122362647-122362648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569244577	chr4:122362701-122362702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186334503	chr4:122362706-122362707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191092346	chr4:122362734-122362735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201640874	chr4:122362750-122362751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182885642	chr4:122362752-122362753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550062491	chr4:122362767-122362768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138308047	chr4:122362772-122362773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122360600-122361400	ZNF genes & repeats	Spleen	Spleen
2	chr4:122361200-122372600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:122368400-122369600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:122369000-122370000	Enhancers	Fetal Intestine Small	intestine
5	chr4:122369000-122370000	Enhancers	Stomach Mucosa	stomach
6	chr4:122369200-122369800	Enhancers	HepG2	liver
7	chr4:122370000-122375600	Weak transcription	Stomach Mucosa	stomach
8	chr4:122370400-122371200	Enhancers	Fetal Kidney	kidney

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