Variant report

Variant	rs74021003
Chromosome Location	chr15:59046819-59046820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
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	CEBPB	chr15:59046672-59046914	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59038409..59043803-chr15:59043836..59048384,6	MCF-7	breast:
2	chr15:59042046..59047020-chr15:59050998..59056418,7	K562	blood:
3	chr15:59046301..59048650-chr15:59061431..59063279,4	K562	blood:
4	chr15:59042171..59043978-chr15:59046627..59049380,3	K562	blood:
5	chr15:59046301..59048650-chr15:59061431..59063261,2	K562	blood:
6	chr15:59040771..59044388-chr15:59046627..59050183,4	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ADAM10	TF binding region
ENSG00000137845	Chromatin interaction
ENSG00000200318	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs16940725	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17236229	0.92[ASN][1000 genomes]
rs28420235	0.80[ASN][1000 genomes]
rs57887445	0.80[ASN][1000 genomes]
rs58102191	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58335185	0.87[EUR][1000 genomes]
rs59962817	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7162921	0.87[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7176539	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7177823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs720273	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs74017282	0.84[ASN][1000 genomes]
rs74017291	0.80[ASN][1000 genomes]
rs74017299	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74021004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
4	esv1843037	chr15:59005922-59115159	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	esv1826703	chr15:59005922-59213678	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	esv1798487	chr15:59027139-59213678	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv428638	chr15:59032300-59126567	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59042600-59062600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:59043000-59062400	Weak transcription	Psoas Muscle	Psoas
3	chr15:59043200-59047000	Weak transcription	Brain Substantia Nigra	brain
4	chr15:59043200-59047800	Weak transcription	Brain Anterior Caudate	brain
5	chr15:59043200-59048400	Weak transcription	A549	lung
6	chr15:59044800-59048600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:59045400-59047200	Weak transcription	Fetal Thymus	thymus
8	chr15:59046000-59048600	Enhancers	Brain Cingulate Gyrus	brain
9	chr15:59046200-59048000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr15:59046200-59048600	Enhancers	Brain Hippocampus Middle	brain
11	chr15:59046400-59050400	Weak transcription	Liver	Liver
12	chr15:59046600-59047000	Enhancers	Brain Angular Gyrus	brain
13	chr15:59046800-59047400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:59046800-59049800	Enhancers	Placenta	Placenta

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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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