Variant report

Variant	rs357520
Chromosome Location	chr9:98190528-98190529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:98190491-98190667	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:98190295-98190996	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:98187685..98192036-chr9:98266677..98274746,12	MCF-7	breast:
2	chr9:98189018..98191444-chr9:98246516..98248115,2	MCF-7	breast:
3	chr9:98186276..98191956-chr9:98269234..98276633,9	K562	blood:
4	chr9:98187259..98193172-chr9:98208629..98217669,12	MCF-7	breast:
5	chr9:98173730..98177988-chr9:98187520..98191004,5	K562	blood:
6	chr9:98173705..98177734-chr9:98187506..98190870,3	MCF-7	breast:
7	chr9:98187278..98190652-chr9:98265637..98273315,6	K562	blood:
8	chr9:98078552..98082181-chr9:98188850..98192317,4	MCF-7	breast:
9	chr9:98187335..98191305-chr9:98637767..98639481,3	MCF-7	breast:
10	chr9:98190412..98192872-chr9:98202167..98205058,2	K562	blood:
11	chr9:98187696..98190762-chr9:98268567..98271378,5	MCF-7	breast:
12	chr9:98188917..98190953-chr9:98637709..98639661,2	MCF-7	breast:
13	chr9:98170885..98173194-chr9:98189275..98191495,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000237857	TF binding region
ENSG00000185920	Chromatin interaction
ENSG00000175611	Chromatin interaction
ENSG00000213761	Chromatin interaction
ENSG00000182150	Chromatin interaction
ENSG00000271155	Chromatin interaction
ENSG00000271659	Chromatin interaction
ENSG00000158169	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10993543	0.93[EUR][1000 genomes]
rs28517704	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28615951	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs357523	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357524	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs357525	0.83[EUR][1000 genomes]
rs357526	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs357537	0.93[EUR][1000 genomes]
rs357544	0.84[EUR][1000 genomes]
rs357545	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs357556	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs357560	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs357561	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs357562	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57247461	0.84[AMR][1000 genomes]
rs58831996	0.84[AMR][1000 genomes]
rs60608001	0.88[AMR][1000 genomes]
rs613040	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61652825	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1051731	chr9:98154815-98201115	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98189400-98196600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr9:98189400-98197400	Weak transcription	Brain Hippocampus Middle	brain
3	chr9:98189600-98192600	Weak transcription	Fetal Lung	lung
4	chr9:98189600-98196400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:98189600-98210800	Weak transcription	Right Atrium	heart
6	chr9:98189800-98192000	Weak transcription	HepG2	liver
7	chr9:98189800-98193400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:98189800-98206600	Weak transcription	Pancreas	Pancrea
9	chr9:98190000-98192000	Weak transcription	K562	blood

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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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