Variant report

Variant	esv3412514
Chromosome Location	chr4:151095502-151097400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:151095620-151095770	GM12869	blood:	n/a	n/a
2	EP300	chr4:151097369-151098404	SK-N-SH	brain:	n/a	n/a
3	EP300	chr4:151096726-151098548	SK-N-SH	brain:	n/a	n/a
4	FOXM1	chr4:151097369-151098460	SK-N-SH	brain:	n/a	n/a
5	GATA2	chr4:151095192-151095610	HUVEC	blood vessel:	n/a	chr4:151095227-151095237
6	GATA3	chr4:151097353-151098500	SK-N-SH	brain:	n/a	chr4:151098149-151098156 chr4:151098149-151098156 chr4:151098138-151098155 chr4:151098149-151098156 chr4:151098147-151098156
7	NFIC	chr4:151097364-151098437	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr4:151095233-151095538	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:151094423-151095547	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr4:151095275-151095506	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr4:151094963-151095712	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr4:151095125-151095593	HUVEC	blood vessel:	n/a	n/a
13	REST	chr4:151094334-151095800	H1-neurons	neurons:	n/a	chr4:151095606-151095624
14	REST	chr4:151095147-151095605	PFSK-1	brain:	n/a	n/a
15	REST	chr4:151094197-151095930	H1-neurons	neurons:	n/a	chr4:151095606-151095624
16	REST	chr4:151097352-151098436	H1-neurons	neurons:	n/a	n/a
17	REST	chr4:151095158-151095600	PFSK-1	brain:	n/a	n/a
18	SIN3AK20	chr4:151095181-151095513	PFSK-1	brain:	n/a	n/a
19	TCF12	chr4:151097304-151098454	SK-N-SH	brain:	n/a	chr4:151097986-151097993
20	TCF12	chr4:151097385-151098510	SK-N-SH	brain:	n/a	chr4:151097986-151097993

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:151097199-151097249	H1-hESC	embryonic stem cell:	embryo
2	chr4:151097199-151097249	HIPEpiC	eye:	n/a
3	chr4:151097199-151097249	LNCaP	prostate:	n/a
4	chr4:151097199-151097249	SK-N-SH	brain:	n/a
5	chr4:151097199-151097249	HMEC	breast:	n/a
6	chr4:151097199-151097249	AoSMC	blood vessel:	n/a
7	chr4:151097199-151097249	HEK293	kidney:	embryo
8	chr4:151097199-151097249	HRCEpiC	kidney:	n/a
9	chr4:151097199-151097249	Caco-2	colon:	n/a
10	chr4:151097199-151097249	AG04450	lung:	fetal
11	chr4:151097199-151097249	ProgFib	skin:	n/a
12	chr4:151097199-151097249	ovcar-3	ovarian:	n/a
13	chr4:151097199-151097249	SKMC	muscle:	n/a
14	chr4:151097199-151097249	PANC-1	pancreas:	n/a
15	chr4:151097199-151097249	GM12892	blood:	n/a
16	chr4:151097199-151097249	HRPEpiC	eye:	n/a
17	chr4:151097199-151097249	SK-N-MC	brain:	n/a
18	chr4:151097199-151097249	NT2-D1	testis:	n/a
19	chr4:151097199-151097249	GM12891	blood:	n/a
20	chr4:151097199-151097249	BJ	skin:	n/a
21	chr4:151097199-151097249	T-47D	breast:	n/a
22	chr4:151097199-151097249	A549	lung:	n/a
23	chr4:151097199-151097249	MCF10A-Er-Src	breast:	n/a
24	chr4:151097199-151097249	AG10803	skin:	n/a
25	chr4:151097199-151097249	NHBE	bronchial:	n/a
26	chr4:151097199-151097249	Hela-S3	cervix:	n/a
27	chr4:151097199-151097249	HCF	heart:	n/a
28	chr4:151097199-151097249	HCPEpiC	choroid plexus:	n/a
29	chr4:151097199-151097249	PrEC	prostate:	n/a
30	chr4:151097199-151097249	HAEpiC	amniotic membrane:	n/a
31	chr4:151097199-151097249	PFSK-1	brain:	n/a
32	chr4:151097199-151097249	NH-A	brain:	n/a
33	chr4:151097199-151097249	HCM	heart:	n/a
34	chr4:151097199-151097249	ECC-1	luminal epithelium:	n/a
35	chr4:151097199-151097249	SAEC	small airway:	n/a
36	chr4:151097199-151097249	CMK	blood:	n/a
37	chr4:151097199-151097249	HepG2	liver:	n/a
38	chr4:151097199-151097249	HNPCEpiC	eye:	n/a
39	chr4:151097199-151097249	AG09309	skin:	n/a
40	chr4:151097199-151097249	BE2_C	brain:	n/a
41	chr4:151097199-151097249	AG09319	gingival:	n/a
42	chr4:151097199-151097249	HL-60	blood:	n/a
43	chr4:151097199-151097249	Jurkat	blood:	n/a
44	chr4:151097199-151097249	HPAEpiC	pulmonary alveolar:	n/a
45	chr4:151097199-151097249	HUVEC	blood vessel:	n/a
46	chr4:151097199-151097249	MCF-7	breast:	n/a
47	chr4:151097199-151097249	AG04449	skin:	fetal
48	chr4:151097199-151097249	HRE	kidney:	n/a
49	chr4:151097199-151097249	GM06990	blood:	n/a
50	chr4:151097199-151097249	IMR90	lung:	fetal

No data

Variant related genes	Relation type
DCLK2	TF binding region
DCLK2	CpG island

Extended variants
information (count: 84 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190616570	chr4:151095526-151095527	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs28635652	chr4:151095536-151095537	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs368126752	chr4:151095544-151095545	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs372811117	chr4:151095572-151095573	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs55803223	chr4:151095618-151095619	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs183532385	chr4:151095638-151095639	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567195364	chr4:151095641-151095642	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536124137	chr4:151095643-151095644	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs187920346	chr4:151095674-151095675	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs569605058	chr4:151095832-151095833	Weak transcription Active TSS Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs28420313	chr4:151095977-151095978	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs549137240	chr4:151095978-151095979	Weak transcription Active TSS Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs113881401	chr4:151096037-151096038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534728940	chr4:151096043-151096044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193013749	chr4:151096099-151096100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578057852	chr4:151096121-151096122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200730503	chr4:151096162-151096163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201250472	chr4:151096163-151096164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55954244	chr4:151096165-151096166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6857960	chr4:151096176-151096177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6857961	chr4:151096178-151096179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs28620333	chr4:151096186-151096187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113000974	chr4:151096188-151096189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs28590232	chr4:151096190-151096191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs55849289	chr4:151096192-151096193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56248911	chr4:151096196-151096197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs55788696	chr4:151096202-151096203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs28589915	chr4:151096204-151096205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs367731947	chr4:151096217-151096218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28723582	chr4:151096226-151096227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28779770	chr4:151096234-151096235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66831942	chr4:151096235-151096236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375914117	chr4:151096238-151096239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184575993	chr4:151096248-151096249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111795194	chr4:151096260-151096261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6835493	chr4:151096273-151096274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9884226	chr4:151096303-151096304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9884876	chr4:151096326-151096327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs9884227	chr4:151096330-151096331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72333867	chr4:151096344-151096345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575794101	chr4:151096358-151096359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534076092	chr4:151096361-151096362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9884658	chr4:151096371-151096372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs557724141	chr4:151096435-151096436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575872140	chr4:151096460-151096461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9884660	chr4:151096492-151096493	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs112940301	chr4:151096497-151096498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369638973	chr4:151096509-151096510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192984352	chr4:151096584-151096585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556054528	chr4:151096590-151096591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Intellectual disability	22102821	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151045200-151099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:151081400-151096600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:151085400-151097400	Weak transcription	Ovary	ovary
4	chr4:151089200-151097000	Weak transcription	Aorta	Aorta
5	chr4:151091600-151104800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:151092000-151097000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:151092200-151096800	Weak transcription	NHDF-Ad	bronchial
8	chr4:151093000-151096800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:151094000-151095600	Enhancers	Brain Angular Gyrus	brain
10	chr4:151094000-151095600	Enhancers	A549	lung
11	chr4:151094000-151095800	Enhancers	HSMMtube	muscle
12	chr4:151094200-151095600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:151094200-151095600	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:151094200-151095600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:151094200-151095600	Enhancers	Brain Substantia Nigra	brain
16	chr4:151094200-151095600	Enhancers	Fetal Lung	lung
17	chr4:151094200-151095600	Enhancers	NH-A	brain
18	chr4:151094200-151095600	Enhancers	Osteobl	bone
19	chr4:151094200-151095800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:151094200-151095800	Enhancers	Brain Hippocampus Middle	brain
21	chr4:151094200-151096000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:151094200-151096000	Enhancers	Fetal Brain Male	brain
23	chr4:151094200-151096000	Enhancers	Left Ventricle	heart
24	chr4:151094200-151098200	Enhancers	Fetal Muscle Leg	muscle
25	chr4:151094400-151095600	Enhancers	NHLF	lung
26	chr4:151094400-151095800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:151094600-151095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:151094600-151095600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:151094800-151097400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:151095000-151095600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:151095000-151095600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr4:151095000-151097000	Weak transcription	Colon Smooth Muscle	Colon
33	chr4:151095000-151097200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:151095000-151097200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:151095200-151096800	Weak transcription	Fetal Kidney	kidney
36	chr4:151095200-151097200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:151095200-151097400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:151095200-151097400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr4:151095400-151095600	Enhancers	Fetal Brain Female	brain
40	chr4:151095400-151095600	Flanking Active TSS	Fetal Heart	heart
41	chr4:151095400-151095800	Active TSS	Adipose Nuclei	Adipose
42	chr4:151095400-151096000	Enhancers	Brain Germinal Matrix	brain
43	chr4:151095400-151096000	Enhancers	HUVEC	blood vessel
44	chr4:151095400-151096400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:151095400-151096600	Weak transcription	Fetal Stomach	stomach
46	chr4:151095400-151096600	Weak transcription	Lung	lung
47	chr4:151095400-151096600	Weak transcription	Right Ventricle	heart
48	chr4:151095400-151097000	Weak transcription	Pancreas	Pancrea
49	chr4:151095400-151097200	Weak transcription	HSMM	muscle
50	chr4:151095400-151097400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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