Variant report

Variant	esv3524414
Chromosome Location	chr4:119106398-119131703
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	chr4:119106698-119106763	GM13976	blood:	n/a	n/a
2	CTCF	chr4:119121361-119121425	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr4:119109035-119109038	Lung_OC	lung:	n/a	n/a
4	CTCF	chr4:119108985-119109033	Lung_OC	lung:	n/a	n/a
5	E2F4	chr4:119109753-119109978	MCF10A-Er-Src	breast:	n/a	n/a
6	FAM48A	chr4:119128616-119128917	GM12878	blood:	n/a	n/a
7	FOS	chr4:119130839-119131152	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr4:119130853-119131151	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr4:119130850-119131192	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr4:119130861-119131181	MCF10A-Er-Src	breast:	n/a	n/a
11	JUND	chr4:119130882-119131132	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAFK	chr4:119130682-119130819	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:119115800-119115852	Gliobla	brain:	n/a	n/a
14	POLR2A	chr4:119114533-119114553	Gliobla	brain:	n/a	n/a
15	POLR2A	chr4:119114503-119114714	ProgFib	skin:	n/a	n/a
16	POLR2A	chr4:119131329-119131394	ProgFib	skin:	n/a	n/a
17	POLR2A	chr4:119115897-119115968	Gliobla	brain:	n/a	n/a
18	SRF	chr4:119106682-119107043	ECC-1	luminal epithelium:	n/a	n/a
19	TBL1XR1	chr4:119112416-119112417	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FKBP4P1	TF binding region

Extended variants
information (count: 784 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34918708	chr4:119106477-119106478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547766073	chr4:119106518-119106519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149544820	chr4:119106540-119106541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530272550	chr4:119106595-119106596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs34548920	chr4:119106609-119106610	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs180766888	chr4:119106660-119106661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572607608	chr4:119106684-119106685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541484203	chr4:119106690-119106691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568938348	chr4:119106701-119106702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185262656	chr4:119106714-119106715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555040160	chr4:119106770-119106771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551534628	chr4:119106798-119106799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571146639	chr4:119106804-119106805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143859755	chr4:119106844-119106845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10024548	chr4:119106872-119106873	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs77612026	chr4:119107035-119107036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60355085	chr4:119107105-119107106	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386678886	chr4:119107127-119107128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10024765	chr4:119107128-119107129	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75846457	chr4:119107138-119107139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79051846	chr4:119107141-119107142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28847597	chr4:119107147-119107148	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565421439	chr4:119107315-119107316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572348070	chr4:119107331-119107332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76116179	chr4:119107365-119107366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114629924	chr4:119107389-119107390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7435331	chr4:119107392-119107393	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs550369142	chr4:119107395-119107396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148205685	chr4:119107409-119107410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532794591	chr4:119107413-119107414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551184127	chr4:119107447-119107448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186356496	chr4:119107458-119107459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533513097	chr4:119107468-119107469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558870970	chr4:119107483-119107484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547383504	chr4:119107542-119107543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191722235	chr4:119107553-119107554	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183087387	chr4:119107567-119107568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187823755	chr4:119107572-119107573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564238796	chr4:119107573-119107574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1589719	chr4:119107577-119107578	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs111986114	chr4:119107605-119107606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540056238	chr4:119107636-119107637	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62326152	chr4:119107643-119107644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs1589718	chr4:119107654-119107655	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs1829911	chr4:119107690-119107691	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs541032183	chr4:119107709-119107710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1829910	chr4:119107712-119107713	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76927601	chr4:119107769-119107770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531644575	chr4:119107879-119107880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574916232	chr4:119107895-119107896	Weak transcription Strong 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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119103800-119106800	Weak transcription	Dnd41	blood
2	chr4:119105200-119117000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:119106800-119108200	Strong transcription	Dnd41	blood
4	chr4:119108200-119111600	Weak transcription	Dnd41	blood
5	chr4:119110400-119110600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:119110600-119114600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:119111600-119112200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:119111600-119112200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr4:119111600-119112800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr4:119111600-119113200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:119111600-119113600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:119111600-119114000	Strong transcription	Dnd41	blood
13	chr4:119111800-119112000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:119111800-119112400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr4:119111800-119112600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:119111800-119113200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:119111800-119113400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:119112000-119125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:119112200-119112600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:119112200-119112600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr4:119112200-119112800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:119112600-119112800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:119112600-119112800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr4:119112600-119113000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:119112600-119113200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:119112800-119113600	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:119114000-119116400	ZNF genes & repeats	Dnd41	blood
28	chr4:119114600-119114800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:119114800-119115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:119115200-119116000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:119116000-119121400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr4:119116400-119117000	Weak transcription	Dnd41	blood
33	chr4:119117000-119117400	Strong transcription	Dnd41	blood
34	chr4:119117400-119118600	Weak transcription	Dnd41	blood
35	chr4:119118600-119119600	ZNF genes & repeats	Dnd41	blood
36	chr4:119120800-119125800	ZNF genes & repeats	Dnd41	blood
37	chr4:119121400-119121600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:119125200-119125600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:119125800-119127600	Weak transcription	Dnd41	blood
40	chr4:119126600-119126800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
41	chr4:119126800-119129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:119127600-119131200	Strong transcription	Dnd41	blood
43	chr4:119128400-119128800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:119128400-119129000	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:119128600-119129000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:119128600-119129200	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr4:119128600-119129800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr4:119128800-119129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:119128800-119130000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr4:119129000-119129400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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