Variant report

Variant	nsv10560
Chromosome Location	chr4:122293497-122297590
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	ATF3	chr4:122297220-122297606	HCT-116	colon:	n/a	n/a
2	CBX3	chr4:122297146-122297654	HCT-116	colon:	n/a	n/a
3	CBX3	chr4:122297242-122297685	HCT-116	colon:	n/a	n/a
4	CEBPB	chr4:122296251-122296905	HCT-116	colon:	n/a	n/a
5	CEBPB	chr4:122296462-122296778	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr4:122296277-122296972	HCT-116	colon:	n/a	n/a
7	CTCF	chr4:122297280-122297430	HPF	lung:	n/a	n/a
8	E2F4	chr4:122296460-122296790	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr4:122295093-122295319	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr4:122295520-122295667	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr4:122296551-122296832	Hela-S3	cervix:	n/a	chr4:122296645-122296654 chr4:122296646-122296655
12	FOS	chr4:122296371-122296868	MCF10A-Er-Src	breast:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
13	FOS	chr4:122295014-122295333	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:122297258-122297672	MCF10A-Er-Src	breast:	n/a	chr4:122297421-122297432 chr4:122297483-122297492
15	FOS	chr4:122297251-122297483	MCF10A-Er-Src	breast:	n/a	chr4:122297421-122297432
16	FOS	chr4:122295045-122295315	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr4:122297257-122297680	MCF10A-Er-Src	breast:	n/a	chr4:122297421-122297432 chr4:122297483-122297492
18	FOS	chr4:122296383-122296931	MCF10A-Er-Src	breast:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
19	FOS	chr4:122296415-122296979	MCF10A-Er-Src	breast:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
20	FOS	chr4:122296412-122296839	MCF10A-Er-Src	breast:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
21	FOS	chr4:122297482-122297589	MCF10A-Er-Src	breast:	n/a	chr4:122297483-122297492
22	FOS	chr4:122293620-122293677	MCF10A-Er-Src	breast:	n/a	n/a
23	FOSL1	chr4:122296262-122296913	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
24	FOSL1	chr4:122296354-122296916	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
25	FOSL1	chr4:122297189-122297676	HCT-116	colon:	n/a	chr4:122297421-122297432 chr4:122297483-122297492 chr4:122297246-122297258
26	JUN	chr4:122294552-122294588	K562	blood:	n/a	n/a
27	JUN	chr4:122296597-122296797	HepG2	liver:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296646-122296654 chr4:122296647-122296658
28	JUND	chr4:122296373-122296906	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296644-122296655 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
29	JUND	chr4:122296265-122296837	HCT-116	colon:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296644-122296655 chr4:122296646-122296654 chr4:122296821-122296832 chr4:122296647-122296658
30	JUND	chr4:122296560-122296795	HepG2	liver:	n/a	chr4:122296646-122296655 chr4:122296646-122296653 chr4:122296645-122296654 chr4:122296644-122296655 chr4:122296646-122296654 chr4:122296647-122296658
31	JUND	chr4:122297103-122297619	HCT-116	colon:	n/a	chr4:122297421-122297432 chr4:122297483-122297492 chr4:122297246-122297258
32	MYC	chr4:122295014-122295519	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:122297408-122297543	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr4:122295015-122295540	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr4:122296404-122296799	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654
36	MYC	chr4:122296347-122296867	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296856-122296865
37	POLR2A	chr4:122294169-122294304	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr4:122296461-122296635	MCF10A-Er-Src	breast:	n/a	n/a
39	SP1	chr4:122296340-122296903	HCT-116	colon:	n/a	n/a
40	SPI1	chr4:122293921-122294346	HL-60	blood:	n/a	n/a
41	STAT3	chr4:122296522-122296732	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296646-122296655
42	STAT3	chr4:122296435-122296790	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296646-122296655
43	STAT3	chr4:122295810-122295893	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT3	chr4:122297363-122297381	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr4:122297368-122297568	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr4:122296449-122296786	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296646-122296655
47	STAT3	chr4:122296435-122296777	MCF10A-Er-Src	breast:	n/a	chr4:122296645-122296654 chr4:122296646-122296655
48	TCF7L2	chr4:122296015-122296870	HCT-116	colon:	n/a	chr4:122296645-122296654
49	TCF7L2	chr4:122297076-122297924	HCT-116	colon:	n/a	chr4:122297437-122297451 chr4:122297436-122297452 chr4:122297436-122297452 chr4:122297439-122297448 chr4:122297438-122297448
50	YY1	chr4:122297327-122297561	HCT-116	colon:	n/a	chr4:122297389-122297405

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122290131..122292541-chr4:122296588..122298243,2	K562	blood:

Variant related genes	Relation type
ENSG00000213480	TF binding region
ENSG00000213480	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150410507	chr4:122293504-122293505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377532479	chr4:122293505-122293506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369679992	chr4:122293544-122293545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145182114	chr4:122293570-122293571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542669462	chr4:122293592-122293593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149176259	chr4:122293598-122293599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143289521	chr4:122293602-122293603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116688459	chr4:122293649-122293650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs543657320	chr4:122293678-122293679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181410344	chr4:122293702-122293703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527470734	chr4:122293725-122293726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138843319	chr4:122293753-122293754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13140392	chr4:122293765-122293766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs536112188	chr4:122293779-122293780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549001500	chr4:122293812-122293813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542918228	chr4:122293826-122293827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555886639	chr4:122293897-122293898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558223152	chr4:122293947-122293948	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs35097879	chr4:122293979-122293980	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs531359680	chr4:122293981-122293982	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs76790400	chr4:122293996-122293997	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs574403857	chr4:122294010-122294011	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs542381465	chr4:122294059-122294060	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs530701670	chr4:122294116-122294117	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs373717309	chr4:122294117-122294118	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs72668980	chr4:122294153-122294154	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs6855166	chr4:122294155-122294156	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs575983494	chr4:122294174-122294175	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs13119176	chr4:122294213-122294214	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs565001275	chr4:122294304-122294305	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375397486	chr4:122294346-122294347	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527413315	chr4:122294388-122294389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547210342	chr4:122294417-122294418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560714159	chr4:122294421-122294422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547514435	chr4:122294444-122294445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529966441	chr4:122294505-122294506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567900518	chr4:122294518-122294519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142568138	chr4:122294525-122294526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114272918	chr4:122294528-122294529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538250130	chr4:122294530-122294531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375820962	chr4:122294531-122294532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571736078	chr4:122294543-122294544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201595629	chr4:122294575-122294576	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534253553	chr4:122294578-122294579	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs144738728	chr4:122294606-122294607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530064250	chr4:122294633-122294634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13120639	chr4:122294678-122294679	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs180768230	chr4:122294679-122294680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185377421	chr4:122294729-122294730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71602335	chr4:122294745-122294746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:32 , 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	chr4:122294000-122294200	Enhancers	HMEC	breast
4	chr4:122294000-122294800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:122294200-122294600	Weak transcription	HMEC	breast
6	chr4:122294600-122295000	Enhancers	HMEC	breast
7	chr4:122294800-122295200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:122294800-122298800	Enhancers	NHEK	skin
9	chr4:122295000-122295400	Flanking Active TSS	HMEC	breast
10	chr4:122295000-122295800	Enhancers	Fetal Lung	lung
11	chr4:122295200-122297600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:122295200-122299000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:122295400-122296000	Enhancers	HMEC	breast
14	chr4:122295400-122297600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:122295600-122299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:122295800-122297000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:122295800-122297600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:122296000-122296200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr4:122296000-122296200	Enhancers	Fetal Muscle Leg	muscle
20	chr4:122296000-122296200	Flanking Active TSS	HMEC	breast
21	chr4:122296000-122296400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:122296000-122296600	Enhancers	Right Ventricle	heart
23	chr4:122296200-122296400	Enhancers	Fetal Intestine Large	intestine
24	chr4:122296200-122296400	Enhancers	HMEC	breast
25	chr4:122296200-122296400	Bivalent Enhancer	NHDF-Ad	bronchial
26	chr4:122296200-122296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:122296200-122296800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:122296200-122297200	Enhancers	Hela-S3	cervix
29	chr4:122296400-122296600	Flanking Active TSS	HMEC	breast
30	chr4:122296400-122301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:122296600-122299200	Enhancers	HMEC	breast
32	chr4:122296600-122300800	Weak transcription	Right Ventricle	heart

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