Variant report

Variant	rs547898569
Chromosome Location	chr1:226377058-226377059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:226377058-226377108	AG04450	lung:	fetal
2	chr1:226377058-226377108	BJ	skin:	n/a
3	chr1:226377058-226377108	NH-A	brain:	n/a
4	chr1:226377058-226377108	AG09319	gingival:	n/a
5	chr1:226377058-226377108	HIPEpiC	eye:	n/a
6	chr1:226377058-226377108	HAEpiC	amniotic membrane:	n/a
7	chr1:226377058-226377108	HRCEpiC	kidney:	n/a
8	chr1:226377058-226377108	ovcar-3	ovarian:	n/a
9	chr1:226377058-226377108	Hepatocyte	liver:	n/a
10	chr1:226377058-226377108	K562	blood:	n/a
11	chr1:226377058-226377108	MCF10A-Er-Src	breast:	n/a
12	chr1:226377058-226377108	HEEpiC	esophagus:	n/a
13	chr1:226377058-226377108	PrEC	prostate:	n/a
14	chr1:226377058-226377108	HMEC	breast:	n/a
15	chr1:226377058-226377108	PANC-1	pancreas:	n/a
16	chr1:226377058-226377108	HL-60	blood:	n/a
17	chr1:226377058-226377108	GM06990	blood:	n/a
18	chr1:226377058-226377108	HCF	heart:	n/a
19	chr1:226377058-226377108	BE2_C	brain:	n/a
20	chr1:226377058-226377108	GM19239	blood:	n/a
21	chr1:226377058-226377108	HCT-116	colon:	n/a
22	chr1:226377058-226377108	H1-hESC	embryonic stem cell:	embryo
23	chr1:226377058-226377108	HepG2	liver:	n/a
24	chr1:226377058-226377108	Caco-2	colon:	n/a
25	chr1:226377058-226377108	Hela-S3	cervix:	n/a
26	chr1:226377058-226377108	HNPCEpiC	eye:	n/a
27	chr1:226377058-226377108	AG09309	skin:	n/a
28	chr1:226377058-226377108	Jurkat	blood:	n/a
29	chr1:226377058-226377108	ECC-1	luminal epithelium:	n/a
30	chr1:226377058-226377108	HEK293	kidney:	embryo
31	chr1:226377058-226377108	GM12891	blood:	n/a
32	chr1:226377058-226377108	NHBE	bronchial:	n/a
33	chr1:226377058-226377108	ProgFib	skin:	n/a
34	chr1:226377058-226377108	HRPEpiC	eye:	n/a
35	chr1:226377058-226377108	SK-N-SH	brain:	n/a
36	chr1:226377058-226377108	SKMC	muscle:	n/a
37	chr1:226377058-226377108	HUVEC	blood vessel:	n/a
38	chr1:226377058-226377108	AoSMC	blood vessel:	n/a
39	chr1:226377058-226377108	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:226377058-226377108	SAEC	small airway:	n/a
41	chr1:226377058-226377108	LNCaP	prostate:	n/a
42	chr1:226377058-226377108	NT2-D1	testis:	n/a
43	chr1:226377058-226377108	CMK	blood:	n/a
44	chr1:226377058-226377108	GM12878	blood:	n/a
45	chr1:226377058-226377108	A549	lung:	n/a
46	chr1:226377058-226377108	RPTEC	kidney:	n/a
47	chr1:226377058-226377108	IMR90	lung:	fetal
48	chr1:226377058-226377108	PFSK-1	brain:	n/a
49	chr1:226377058-226377108	SK-N-SH_RA	brain:	n/a
50	chr1:226377058-226377108	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
2	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
3	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000223570	CpG island
ACBD3	CpG island
ENSG00000182827	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a
3	esv2829936	chr1:226375267-226488826	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv517107	chr1:226375267-226508645	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv20384	chr1:226375850-226384008	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226375000-226380000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:226375000-226382600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:226375200-226377200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226375200-226377200	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:226375200-226378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:226375200-226411000	Weak transcription	Right Atrium	heart
7	chr1:226375400-226377800	Weak transcription	Fetal Lung	lung
8	chr1:226377000-226377200	Enhancers	HepG2	liver

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