Variant report

Variant	esv3436888
Chromosome Location	chr4:88291128-88295326
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	chr4:88293414-88293431	K562	blood:	n/a	n/a
2	CEBPB	chr4:88295317-88295595	IMR90	lung:	n/a	chr4:88295424-88295435
3	CTCF	chr4:88294757-88294840	Medullo	brain:	n/a	n/a
4	CTCF	chr4:88291617-88291680	GM13976	blood:	n/a	n/a
5	POLR2A	chr4:88293050-88293065	K562	blood:	n/a	n/a
6	POLR2A	chr4:88294268-88294363	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:88292413-88292948	HepG2	liver:	n/a	n/a
8	POLR2A	chr4:88294944-88295120	K562	blood:	n/a	n/a
9	POLR2A	chr4:88293026-88293042	K562	blood:	n/a	n/a
10	POLR2A	chr4:88292686-88292736	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr4:88294468-88294744	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:88292276-88292990	K562	blood:	n/a	n/a
13	POLR2A	chr4:88292944-88293010	K562	blood:	n/a	n/a
14	POLR2A	chr4:88293093-88293105	K562	blood:	n/a	n/a
15	POLR2A	chr4:88294838-88294905	K562	blood:	n/a	n/a
16	POLR2A	chr4:88294753-88294835	K562	blood:	n/a	n/a
17	POLR2A	chr4:88295184-88295467	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:88293076-88293086	K562	blood:	n/a	n/a
19	SPI1	chr4:88291311-88291534	GM12878	blood:	n/a	chr4:88291426-88291439 chr4:88291439-88291448 chr4:88291429-88291438

No.	Distal block	Cell Line	Cell type
1	chr4:88294120..88296895-chr4:88310582..88312667,2	K562	blood:
2	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:
3	chr4:88288892..88291753-chr4:88294244..88297136,3	MCF-7	breast:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs531173705	chr4:88291154-88291155	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149189747	chr4:88291194-88291195	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34109910	chr4:88291197-88291198	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567023123	chr4:88291228-88291229	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs6531983	chr4:88291233-88291234	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs142423937	chr4:88291250-88291251	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369312843	chr4:88291270-88291271	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547264493	chr4:88291299-88291300	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551331995	chr4:88291325-88291326	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs566009056	chr4:88291390-88291391	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11737402	chr4:88291439-88291440	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs548426748	chr4:88291450-88291451	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567681443	chr4:88291514-88291515	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538216063	chr4:88291520-88291521	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6531984	chr4:88291535-88291536	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs558649956	chr4:88291560-88291561	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112590010	chr4:88291580-88291581	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562682875	chr4:88291581-88291582	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs184770478	chr4:88291595-88291596	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs140301833	chr4:88291598-88291599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145206676	chr4:88291600-88291601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542967466	chr4:88291632-88291633	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190069812	chr4:88291670-88291671	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs575658524	chr4:88291689-88291690	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs542997093	chr4:88291692-88291693	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs111544354	chr4:88291693-88291694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113704319	chr4:88291729-88291730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200418323	chr4:88291733-88291734	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs56142885	chr4:88291741-88291742	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs10213098	chr4:88291760-88291761	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs376028397	chr4:88291883-88291884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61554951	chr4:88291895-88291896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61008645	chr4:88291898-88291899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369074117	chr4:88291901-88291902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552549847	chr4:88291904-88291905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199788505	chr4:88291906-88291907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372305240	chr4:88291907-88291908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375212399	chr4:88291908-88291909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13126720	chr4:88291910-88291911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55775401	chr4:88291911-88291912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs13126721	chr4:88291913-88291914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs28610908	chr4:88291914-88291915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57047986	chr4:88291920-88291921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559296502	chr4:88291927-88291928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529866545	chr4:88291964-88291965	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28514476	chr4:88291971-88291972	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572851373	chr4:88291990-88291991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544700863	chr4:88292049-88292050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550191512	chr4:88292050-88292051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562221562	chr4:88292071-88292072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:88256200-88292800	Weak transcription	Gastric	stomach
5	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
6	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
8	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:88267600-88292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
11	chr4:88268000-88292200	Weak transcription	Ovary	ovary
12	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
13	chr4:88273000-88292200	Weak transcription	Brain Substantia Nigra	brain
14	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
15	chr4:88274200-88296200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr4:88274400-88296400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:88274600-88296200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr4:88274600-88296400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr4:88274600-88296600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
23	chr4:88274800-88296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:88275200-88292200	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:88275200-88292400	Weak transcription	GM12878-XiMat	blood
27	chr4:88275200-88296200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:88275200-88299400	Strong transcription	Dnd41	blood
29	chr4:88276000-88292400	Weak transcription	NHDF-Ad	bronchial
30	chr4:88276200-88292400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:88276200-88292600	Weak transcription	NHLF	lung
32	chr4:88276200-88296000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:88276400-88292200	Weak transcription	Osteobl	bone
35	chr4:88276400-88292400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:88276400-88295800	Weak transcription	HMEC	breast
37	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:88277000-88292400	Weak transcription	Brain Anterior Caudate	brain
39	chr4:88278000-88295800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr4:88278200-88292800	Weak transcription	Esophagus	oesophagus
41	chr4:88278400-88292400	Weak transcription	HSMM	muscle
42	chr4:88278600-88292600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:88278600-88292600	Weak transcription	Stomach Mucosa	stomach
44	chr4:88278800-88292400	Weak transcription	Brain Angular Gyrus	brain
45	chr4:88278800-88297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr4:88279800-88297200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr4:88280200-88296400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:88280600-88296200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:88281800-88292200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:88281800-88292200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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