Variant report

Variant	rs67578505
Chromosome Location	chr17:60248952-60248953
allele	A/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60232654..60235141-chr17:60247597..60250106,2	MCF-7	breast:
2	chr17:60141049..60143992-chr17:60247175..60249761,3	K562	blood:
3	chr17:60246778..60249931-chr17:60288203..60290527,3	K562	blood:
4	chr17:60223419..60225986-chr17:60246691..60249394,3	K562	blood:
5	chr17:60242920..60246117-chr17:60246447..60250898,5	K562	blood:
6	chr17:60247606..60249612-chr17:60262844..60265837,2	MCF-7	breast:
7	chr17:60248066..60250089-chr17:60251705..60253318,2	K562	blood:
8	chr17:60247352..60252279-chr17:60252798..60257282,6	MCF-7	breast:

No data

No data

No data

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11652419	0.86[ASN][1000 genomes]
rs28642005	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34916227	1.00[ASN][1000 genomes]
rs4586515	0.84[ASN][1000 genomes]
rs57109030	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58736433	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60099191	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66878048	0.92[ASN][1000 genomes]
rs67359453	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67506936	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7210352	0.83[ASN][1000 genomes]
rs7218178	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7218662	0.88[ASN][1000 genomes]
rs7219768	0.89[ASN][1000 genomes]
rs9900682	0.99[ASN][1000 genomes]
rs9906239	0.85[ASN][1000 genomes]
rs9916438	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv575844	chr17:60199130-60434267	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1055856	chr17:60202722-60408137	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv543401	chr17:60202722-60408137	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60241600-60255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:60247200-60250600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:60247600-60249200	Enhancers	Hela-S3	cervix
4	chr17:60247800-60249000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr17:60247800-60249800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:60248000-60249000	Enhancers	Osteobl	bone
7	chr17:60248200-60249200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:60248200-60249200	Enhancers	A549	lung
9	chr17:60248400-60249200	Enhancers	NHEK	skin
10	chr17:60248600-60249200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:60248800-60249000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:60248800-60249200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:60248800-60249200	Enhancers	Primary B cells from peripheral blood	blood
14	chr17:60248800-60249200	Enhancers	Placenta	Placenta
15	chr17:60248800-60249200	Flanking Active TSS	GM12878-XiMat	blood
16	chr17:60248800-60249200	Enhancers	HMEC	breast
17	chr17:60248800-60249200	Flanking Active TSS	K562	blood
18	chr17:60248800-60249200	Flanking Active TSS	Monocytes-CD14+_RO01746	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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