Variant report

Variant	nsv4485
Chromosome Location	chr4:119103349-119144334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

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	CTCF	chr4:119109035-119109038	Lung_OC	lung:	n/a	n/a
3	CTCF	chr4:119104060-119104210	NHLF	lung:	n/a	n/a
4	CTCF	chr4:119140536-119140576	Lung_OC	lung:	n/a	n/a
5	CTCF	chr4:119139497-119139592	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr4:119106698-119106763	GM13976	blood:	n/a	n/a
7	CTCF	chr4:119108985-119109033	Lung_OC	lung:	n/a	n/a
8	CUX1	chr4:119141963-119142120	GM12878	blood:	n/a	n/a
9	E2F4	chr4:119109753-119109978	MCF10A-Er-Src	breast:	n/a	n/a
10	EBF1	chr4:119103560-119103907	GM12878	blood:	n/a	chr4:119103741-119103752
11	EBF1	chr4:119103623-119103840	GM12878	blood:	n/a	chr4:119103741-119103752
12	FAM48A	chr4:119128616-119128917	GM12878	blood:	n/a	n/a
13	FOS	chr4:119130853-119131151	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr4:119130861-119131181	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr4:119130839-119131152	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr4:119130850-119131192	MCF10A-Er-Src	breast:	n/a	n/a
17	GATA3	chr4:119142580-119143181	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr4:119142672-119143025	SH-SY5Y	brain:	n/a	n/a
19	GATA3	chr4:119135989-119136085	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr4:119142489-119143113	SK-N-SH	brain:	n/a	n/a
21	JUND	chr4:119130882-119131132	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr4:119136143-119136357	HepG2	liver:	n/a	n/a
23	MAFK	chr4:119135515-119135585	HepG2	liver:	n/a	n/a
24	MAFK	chr4:119135603-119135605	HepG2	liver:	n/a	n/a
25	MAFK	chr4:119130682-119130819	HepG2	liver:	n/a	n/a
26	MAFK	chr4:119136168-119136394	HepG2	liver:	n/a	n/a
27	NRF1	chr4:119135778-119135943	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr4:119131329-119131394	ProgFib	skin:	n/a	n/a
29	POLR2A	chr4:119115800-119115852	Gliobla	brain:	n/a	n/a
30	POLR2A	chr4:119115897-119115968	Gliobla	brain:	n/a	n/a
31	POLR2A	chr4:119138956-119139063	HUVEC	blood vessel:	n/a	n/a
32	POLR2A	chr4:119114503-119114714	ProgFib	skin:	n/a	n/a
33	POLR2A	chr4:119114533-119114553	Gliobla	brain:	n/a	n/a
34	SRF	chr4:119106682-119107043	ECC-1	luminal epithelium:	n/a	n/a
35	STAT3	chr4:119143529-119143729	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr4:119143630-119143826	MCF10A-Er-Src	breast:	n/a	n/a
37	TBL1XR1	chr4:119112416-119112417	GM12878	blood:	n/a	n/a
38	TBP	chr4:119135374-119135534	GM12878	blood:	n/a	n/a
39	TCF12	chr4:119142200-119143133	SK-N-SH	brain:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119103980..119104963-chr9:127026146..127026708,2	MCF-7	breast:

No data

Variant related genes	Relation type
FKBP4P1	TF binding region

Extended variants
information (count: 1276 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1276 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547062437	chr4:119103391-119103392	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566899360	chr4:119103394-119103395	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535795546	chr4:119103398-119103399	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573342669	chr4:119103437-119103438	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549118653	chr4:119103481-119103482	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576008050	chr4:119103535-119103536	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569179840	chr4:119103536-119103537	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72913092	chr4:119103538-119103539	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558062710	chr4:119103667-119103668	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563557227	chr4:119103675-119103676	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370205757	chr4:119103676-119103677	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139505895	chr4:119103684-119103685	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578146528	chr4:119103791-119103792	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534171960	chr4:119103919-119103920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552983879	chr4:119103934-119103935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13129847	chr4:119104006-119104007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375742738	chr4:119104016-119104017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75676282	chr4:119104056-119104057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74391621	chr4:119104057-119104058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71608348	chr4:119104092-119104093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139817621	chr4:119104102-119104103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575342232	chr4:119104105-119104106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372212631	chr4:119104107-119104108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149699609	chr4:119104146-119104147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564415815	chr4:119104158-119104159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572570306	chr4:119104162-119104163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533149117	chr4:119104217-119104218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13434825	chr4:119104224-119104225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189477195	chr4:119104268-119104269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146363501	chr4:119104299-119104300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181584201	chr4:119104300-119104301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561299343	chr4:119104375-119104376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139657906	chr4:119104381-119104382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531634930	chr4:119104435-119104436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185122202	chr4:119104479-119104480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571608711	chr4:119104482-119104483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28430981	chr4:119104615-119104616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554085255	chr4:119104658-119104659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566530830	chr4:119104661-119104662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144405324	chr4:119104665-119104666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372755598	chr4:119104730-119104731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146628464	chr4:119104740-119104741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149222651	chr4:119104786-119104787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142264795	chr4:119104866-119104867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115920388	chr4:119104868-119104869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558039389	chr4:119104898-119104899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79342491	chr4:119104905-119104906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540389538	chr4:119104916-119104917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531376492	chr4:119105007-119105008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549467750	chr4:119105008-119105009	Enhancers Weak transcription	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119099800-119103800	Genic enhancers	Dnd41	blood
2	chr4:119103800-119106800	Weak transcription	Dnd41	blood
3	chr4:119105000-119105200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:119105200-119117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:119106800-119108200	Strong transcription	Dnd41	blood
6	chr4:119108200-119111600	Weak transcription	Dnd41	blood
7	chr4:119110400-119110600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:119110600-119114600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:119111600-119112200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:119111600-119112200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr4:119111600-119112800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:119111600-119113200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr4:119111600-119113600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:119111600-119114000	Strong transcription	Dnd41	blood
15	chr4:119111800-119112000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:119111800-119112400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:119111800-119112600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:119111800-119113200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr4:119111800-119113400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:119112200-119112600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr4:119112200-119112600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:119112200-119112800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:119112600-119112800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:119112600-119112800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:119112600-119113000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr4:119112600-119113200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:119112800-119113600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:119114000-119116400	ZNF genes & repeats	Dnd41	blood
30	chr4:119114600-119114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:119114800-119115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:119115200-119116000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:119116000-119121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:119116400-119117000	Weak transcription	Dnd41	blood
35	chr4:119117000-119117400	Strong transcription	Dnd41	blood
36	chr4:119117400-119118600	Weak transcription	Dnd41	blood
37	chr4:119118600-119119600	ZNF genes & repeats	Dnd41	blood
38	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
39	chr4:119121400-119121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:119125800-119127600	Weak transcription	Dnd41	blood
42	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
43	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr4:119127600-119131200	Strong transcription	Dnd41	blood
45	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links