Variant report

Variant	rs7554112
Chromosome Location	chr1:45772904-45772905
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:45772692-45772949	HepG2	liver:	n/a	n/a
2	MAFF	chr1:45772729-45772905	HepG2	liver:	n/a	n/a
3	MAFK	chr1:45772743-45772943	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:45772802-45773001	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAFK	chr1:45772697-45772953	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45770702..45772364-chr1:45772759..45774464,2	K562	blood:
2	chr1:45767877..45774853-chr1:45802459..45807372,12	K562	blood:
3	chr1:45476357..45485239-chr1:45761850..45773601,48	K562	blood:
4	chr1:45264598..45267243-chr1:45772513..45774527,2	K562	blood:
5	chr1:45186092..45187903-chr1:45772051..45774036,3	K562	blood:
6	chr1:45772005..45773547-chr1:45986746..45988790,2	MCF-7	breast:
7	chr1:45282609..45288514-chr1:45767803..45773154,13	K562	blood:
8	chr1:45476265..45486633-chr1:45761064..45774272,63	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ZSWIM5	TF binding region
ENSG00000173846	Chromatin interaction
ENSG00000199377	Chromatin interaction
ENSG00000126107	Chromatin interaction
ENSG00000132781	Chromatin interaction
ENSG00000162415	Chromatin interaction
ENSG00000132773	Chromatin interaction
ENSG00000126088	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000202444	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28472700	1.00[AMR][1000 genomes]
rs55786026	1.00[AMR][1000 genomes]
rs56015816	1.00[AMR][1000 genomes]
rs56328440	1.00[AMR][1000 genomes]
rs56359961	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59831088	1.00[AMR][1000 genomes]
rs6686117	1.00[EUR][1000 genomes]
rs6692066	1.00[AMR][1000 genomes]
rs72890537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890558	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72890585	1.00[AMR][1000 genomes]
rs72890600	1.00[AMR][1000 genomes]
rs74072235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519633	1.00[AMR][1000 genomes]
rs7549045	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7555357	1.00[EUR][1000 genomes]

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	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45770600-45773000	Enhancers	H1 Cell Line	embryonic stem cell
2	chr1:45770600-45773200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:45771200-45775800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:45771400-45773000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:45771800-45773000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:45771800-45773000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:45771800-45773600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:45772000-45773000	Enhancers	NHEK	skin
9	chr1:45772200-45773000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:45772200-45773600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:45772400-45773600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:45772600-45773000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:45772800-45773000	Enhancers	GM12878-XiMat	blood
14	chr1:45772800-45773200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr1:45772800-45773400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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