Variant report

Variant	rs56052427
Chromosome Location	chr1:166806328-166806329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr1:166805884-166806343	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:166806295-166806345	NT2-D1	testis:	n/a
2	chr1:166806295-166806345	HEEpiC	esophagus:	n/a
3	chr1:166806295-166806345	SAEC	small airway:	n/a
4	chr1:166806295-166806345	LNCaP	prostate:	n/a
5	chr1:166806295-166806345	Caco-2	colon:	n/a
6	chr1:166806295-166806345	NH-A	brain:	n/a
7	chr1:166806295-166806345	HL-60	blood:	n/a
8	chr1:166806295-166806345	SK-N-SH_RA	brain:	n/a
9	chr1:166806295-166806345	T-47D	breast:	n/a
10	chr1:166806295-166806345	HRPEpiC	eye:	n/a
11	chr1:166806295-166806345	HCPEpiC	choroid plexus:	n/a
12	chr1:166806295-166806345	HIPEpiC	eye:	n/a
13	chr1:166806295-166806345	AoSMC	blood vessel:	n/a
14	chr1:166806295-166806345	GM06990	blood:	n/a
15	chr1:166806295-166806345	BE2_C	brain:	n/a
16	chr1:166806295-166806345	SK-N-MC	brain:	n/a
17	chr1:166806295-166806345	HRCEpiC	kidney:	n/a
18	chr1:166806295-166806345	NHBE	bronchial:	n/a
19	chr1:166806295-166806345	ovcar-3	ovarian:	n/a
20	chr1:166806295-166806345	NB4	blood:	n/a
21	chr1:166806295-166806345	ECC-1	luminal epithelium:	n/a
22	chr1:166806295-166806345	Hepatocyte	liver:	n/a
23	chr1:166806295-166806345	BJ	skin:	n/a
24	chr1:166806295-166806345	AG09319	gingival:	n/a
25	chr1:166806295-166806345	SKMC	muscle:	n/a
26	chr1:166806295-166806345	MCF-7	breast:	n/a
27	chr1:166806295-166806345	HCT-116	colon:	n/a
28	chr1:166806295-166806345	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:166806295-166806345	CMK	blood:	n/a
30	chr1:166806295-166806345	GM19239	blood:	n/a
31	chr1:166806295-166806345	NHDF-neo	bronchial:	n/a
32	chr1:166806295-166806345	HUVEC	blood vessel:	n/a
33	chr1:166806295-166806345	AG10803	skin:	n/a
34	chr1:166806295-166806345	GM12891	blood:	n/a
35	chr1:166806295-166806345	HMEC	breast:	n/a
36	chr1:166806295-166806345	AG04449	skin:	fetal
37	chr1:166806295-166806345	GM12892	blood:	n/a
38	chr1:166806295-166806345	HNPCEpiC	eye:	n/a
39	chr1:166806295-166806345	ProgFib	skin:	n/a
40	chr1:166806295-166806345	HEK293	kidney:	embryo
41	chr1:166806295-166806345	PrEC	prostate:	n/a
42	chr1:166806295-166806345	GM12878	blood:	n/a
43	chr1:166806295-166806345	Jurkat	blood:	n/a
44	chr1:166806295-166806345	AG04450	lung:	fetal
45	chr1:166806295-166806345	U87	brain:	n/a
46	chr1:166806295-166806345	HepG2	liver:	n/a
47	chr1:166806295-166806345	HAEpiC	amniotic membrane:	n/a
48	chr1:166806295-166806345	IMR90	lung:	fetal
49	chr1:166806295-166806345	SK-N-SH	brain:	n/a
50	chr1:166806295-166806345	RPTEC	kidney:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
3	chr1:166805113..166806687-chr1:166808463..166810278,2	MCF-7	breast:
4	chr1:166794651..166797041-chr1:166805983..166808109,2	K562	blood:

No data

Variant related genes	Relation type
POGK	TF binding region
POGK	CpG island
ENSG00000152382	Chromatin interaction
ENSG00000143157	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16858144	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55675362	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55737217	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55866154	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56290988	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56383249	0.81[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166802000-166807600	Weak transcription	Spleen	Spleen
2	chr1:166803400-166808200	Weak transcription	Lung	lung
3	chr1:166803600-166807600	Weak transcription	Psoas Muscle	Psoas
4	chr1:166805200-166807400	Weak transcription	Pancreas	Pancrea
5	chr1:166805400-166806600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:166805600-166806800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:166805600-166807800	Enhancers	HMEC	breast
8	chr1:166805800-166806400	Enhancers	NHEK	skin
9	chr1:166805800-166807000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:166806000-166807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:166806200-166807400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:166806200-166807400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:166806200-166807600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:166806200-166807800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:166806200-166807800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:166806200-166807800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:166806200-166808200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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