Variant report

Variant	rs2135547
Chromosome Location	chr19:51395446-51395447
allele	A/G
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:10)
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	RUNX3	chr19:51393777-51395587	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51385573..51388832-chr19:51392318..51396932,6	K562	blood:
2	chr19:51303617..51305677-chr19:51394632..51397507,3	K562	blood:
3	chr19:51306537..51308894-chr19:51393464..51395843,2	K562	blood:
4	chr19:51304549..51308476-chr19:51394101..51398510,4	MCF-7	breast:
5	chr19:51386275..51389211-chr19:51394975..51397700,3	K562	blood:
6	chr19:51306130..51307979-chr19:51395069..51396675,2	MCF-7	breast:
7	chr19:51393691..51396135-chr19:51398572..51401227,2	K562	blood:
8	chr19:51306385..51308222-chr19:51394305..51397653,3	K562	blood:
9	chr19:51298573..51300472-chr19:51395202..51396842,2	K562	blood:
10	chr19:51389512..51392688-chr19:51394612..51397705,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
KLKP1	TF binding region
ENSG00000197588	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000220988	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1654515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1654516	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1701936	0.91[AMR][1000 genomes]
rs1701937	0.91[AMR][1000 genomes]
rs1701940	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659111	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659118	0.83[AMR][1000 genomes]
rs2664145	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2739488	0.83[AMR][1000 genomes]
rs2739489	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51393400-51396400	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:51394000-51398000	Weak transcription	Colon Smooth Muscle	Colon
3	chr19:51394800-51396000	Enhancers	GM12878-XiMat	blood
4	chr19:51394800-51399800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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Input of quick search could be:

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

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