Variant report

Variant	esv3450902
Chromosome Location	chr4:1051949-1052222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr4:1052145-1052260	K562	blood:	n/a	n/a
2	FOSL2	chr4:1052083-1052345	HepG2	liver:	n/a	n/a
3	JUND	chr4:1052128-1052338	HepG2	liver:	n/a	n/a
4	MAX	chr4:1052154-1052327	HepG2	liver:	n/a	n/a
5	MAX	chr4:1052152-1052396	K562	blood:	n/a	n/a
6	POLR2A	chr4:1052020-1052443	H1-neurons	neurons:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1052138-1052188	Jurkat	blood:	n/a
2	chr4:1052158-1052208	ovcar-3	ovarian:	n/a
3	chr4:1052158-1052208	HRCEpiC	kidney:	n/a
4	chr4:1052158-1052208	RPTEC	kidney:	n/a
5	chr4:1052138-1052188	PFSK-1	brain:	n/a
6	chr4:1052138-1052188	HAEpiC	amniotic membrane:	n/a
7	chr4:1052138-1052188	AG10803	skin:	n/a
8	chr4:1052138-1052188	GM12892	blood:	n/a
9	chr4:1052158-1052208	HAEpiC	amniotic membrane:	n/a
10	chr4:1052138-1052188	HEEpiC	esophagus:	n/a
11	chr4:1052158-1052208	HepG2	liver:	n/a
12	chr4:1052138-1052188	ProgFib	skin:	n/a
13	chr4:1052138-1052188	H1-hESC	embryonic stem cell:	embryo
14	chr4:1052158-1052208	HRE	kidney:	n/a
15	chr4:1052138-1052188	GM06990	blood:	n/a
16	chr4:1052158-1052208	AG09309	skin:	n/a
17	chr4:1052158-1052208	HEEpiC	esophagus:	n/a
18	chr4:1052158-1052208	T-47D	breast:	n/a
19	chr4:1052138-1052188	ECC-1	luminal epithelium:	n/a
20	chr4:1052138-1052188	Caco-2	colon:	n/a
21	chr4:1052138-1052188	HIPEpiC	eye:	n/a
22	chr4:1052158-1052208	GM12891	blood:	n/a
23	chr4:1052158-1052208	BE2_C	brain:	n/a
24	chr4:1052158-1052208	HRPEpiC	eye:	n/a
25	chr4:1052158-1052208	PANC-1	pancreas:	n/a
26	chr4:1052158-1052208	SKMC	muscle:	n/a
27	chr4:1052138-1052188	HCT-116	colon:	n/a
28	chr4:1052138-1052188	AG04450	lung:	fetal
29	chr4:1052138-1052188	BJ	skin:	n/a
30	chr4:1052158-1052208	A549	lung:	n/a
31	chr4:1052158-1052208	IMR90	lung:	fetal
32	chr4:1052158-1052208	HCPEpiC	choroid plexus:	n/a
33	chr4:1052158-1052208	HUVEC	blood vessel:	n/a
34	chr4:1052158-1052208	HEK293	kidney:	embryo
35	chr4:1052138-1052188	HCM	heart:	n/a
36	chr4:1052138-1052188	AG09309	skin:	n/a
37	chr4:1052138-1052188	HNPCEpiC	eye:	n/a
38	chr4:1052138-1052188	NB4	blood:	n/a
39	chr4:1052138-1052188	Hela-S3	cervix:	n/a
40	chr4:1052158-1052208	CMK	blood:	n/a
41	chr4:1052138-1052188	GM12878	blood:	n/a
42	chr4:1052158-1052208	HCM	heart:	n/a
43	chr4:1052158-1052208	NHDF-neo	bronchial:	n/a
44	chr4:1052138-1052188	SAEC	small airway:	n/a
45	chr4:1052158-1052208	SK-N-SH_RA	brain:	n/a
46	chr4:1052138-1052188	HepG2	liver:	n/a
47	chr4:1052138-1052188	GM19239	blood:	n/a
48	chr4:1052138-1052188	HCPEpiC	choroid plexus:	n/a
49	chr4:1052158-1052208	LNCaP	prostate:	n/a
50	chr4:1052158-1052208	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1052002..1052766-chr4:1359397..1360108,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNF212	TF binding region
RNF212	CpG island
ENSG00000163945	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191857987	chr4:1051952-1051953	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs184195197	chr4:1051992-1051993	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs544706848	chr4:1052007-1052008	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs13114658	chr4:1052009-1052010	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs531926020	chr4:1052012-1052013	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563512099	chr4:1052017-1052018	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543953385	chr4:1052040-1052041	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536820647	chr4:1052059-1052060	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555109624	chr4:1052075-1052076	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2290410	chr4:1052078-1052079	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs116547856	chr4:1052089-1052090	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs188299565	chr4:1052095-1052096	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537700895	chr4:1052098-1052099	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs57186616	chr4:1052100-1052101	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs11724371	chr4:1052125-1052126	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536957567	chr4:1052138-1052139	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548722321	chr4:1052144-1052145	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs57452522	chr4:1052159-1052160	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386670456	chr4:1052164-1052165	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2248083	chr4:1052166-1052167	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs534541270	chr4:1052176-1052177	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371748322	chr4:1052177-1052178	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2045069	chr4:1052206-1052207	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs2045068	chr4:1052212-1052213	Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:64)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD
Breast cancer	20932292	CNVD
Cancer	20164919	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1042200-1052200	Weak transcription	Gastric	stomach
2	chr4:1049600-1054600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:1049800-1056200	Weak transcription	Right Atrium	heart
4	chr4:1050000-1052200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:1050000-1052200	Weak transcription	Esophagus	oesophagus
6	chr4:1050000-1052400	Weak transcription	Left Ventricle	heart
7	chr4:1050000-1052800	Weak transcription	Spleen	Spleen
8	chr4:1050000-1054600	Weak transcription	Pancreas	Pancrea
9	chr4:1050000-1055400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:1050200-1052400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:1050200-1054200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:1050400-1055600	Weak transcription	GM12878-XiMat	blood
13	chr4:1051000-1052800	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr4:1051200-1052400	Bivalent Enhancer	HepG2	liver
15	chr4:1051800-1053400	Enhancers	Fetal Heart	heart
16	chr4:1052000-1052200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr4:1052000-1052600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:1052000-1053000	Enhancers	Right Ventricle	heart
19	chr4:1052000-1053600	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr4:1052200-1052400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
21	chr4:1052200-1052400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:1052200-1052400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:1052200-1052400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:1052200-1052400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
25	chr4:1052200-1052400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:1052200-1052400	Flanking Bivalent TSS/Enh	Sigmoid Colon	Sigmoid Colon
27	chr4:1052200-1052600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:1052200-1052800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:1052200-1052800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:1052200-1052800	Enhancers	Esophagus	oesophagus
31	chr4:1052200-1053000	Enhancers	Gastric	stomach
32	chr4:1052200-1053400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain

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