Variant report

Variant	rs268917
Chromosome Location	chr19:51424854-51424855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51207123..51207698-chr19:51424524..51425304,2	MCF-7	breast:
2	chr19:51305398..51307185-chr19:51424202..51426690,2	MCF-7	breast:
3	chr19:51170642..51172342-chr19:51424128..51427049,2	K562	blood:
4	chr19:51418343..51421900-chr19:51422458..51425721,3	K562	blood:
5	chr19:51411727..51414183-chr19:51423578..51426767,3	K562	blood:
6	chr19:51303003..51307595-chr19:51424034..51426831,5	K562	blood:
7	chr19:51294402..51296118-chr19:51423536..51425330,2	K562	blood:
8	chr19:51297246..51301277-chr19:51424078..51428279,6	K562	blood:
9	chr19:51420400..51421939-chr19:51423500..51425721,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000220988	Chromatin interaction
ENSG00000167749	Chromatin interaction
ENSG00000213023	Chromatin interaction
ENSG00000167747	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs268919	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs268922	0.88[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6509501	0.89[EUR][1000 genomes]
rs7254626	0.83[GIH][hapmap]
rs7258794	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8100631	0.83[GIH][hapmap]
rs8101572	0.96[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.82[TSI][hapmap];0.90[EUR][1000 genomes]
rs870361	0.91[GIH][hapmap];0.91[TSI][hapmap];0.83[EUR][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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51420000-51425000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:51424200-51427600	Weak transcription	Right Atrium	heart
3	chr19:51424800-51425000	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:51424800-51425000	Bivalent Enhancer	A549	lung
5	chr19:51424800-51425200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr19:51424800-51425200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr19:51424800-51425200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr19:51424800-51425400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
9	chr19:51424800-51425400	Bivalent Enhancer	NHEK	skin
10	chr19:51424800-51425600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr19:51424800-51425600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:51424800-51425600	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr19:51424800-51425600	Enhancers	GM12878-XiMat	blood
14	chr19:51424800-51425800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:51424800-51425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr19:51424800-51426000	Bivalent Enhancer	Fetal Stomach	stomach

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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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