Variant report

Variant	rs17687635
Chromosome Location	chr6:27259767-27259768
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	chr6:27258318..27260398-chr6:27469283..27471523,2	K562	blood:
2	chr6:27258451..27260109-chr6:27301059..27302632,2	K562	blood:
3	chr6:27218105..27220281-chr6:27259553..27261970,3	K562	blood:
4	chr6:27258123..27260982-chr6:27774504..27777198,2	K562	blood:
5	chr6:27258656..27261261-chr6:27270962..27272747,2	K562	blood:
6	chr6:27257414..27260339-chr6:27439402..27443718,5	K562	blood:
7	chr6:27201566..27203350-chr6:27258009..27260418,2	K562	blood:
8	chr6:27144021..27146883-chr6:27258754..27261461,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000112812	Chromatin interaction
ENSG00000185130	Chromatin interaction
ENSG00000196747	Chromatin interaction
ENSG00000096654	Chromatin interaction
ENSG00000217862	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17687319	1.00[JPT][hapmap]
rs17687372	1.00[JPT][hapmap]
rs17687396	1.00[JPT][hapmap]
rs17688097	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17739298	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17739310	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2393924	1.00[ASN][1000 genomes]
rs4145206	0.81[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9461355	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9461356	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9461357	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9461358	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs9461362	1.00[CEU][hapmap]
rs9468064	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9468067	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9468068	1.00[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17687635	ZNF193	cis	substantia nigra	BrainEAC

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27257800-27260000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr6:27258000-27260000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr6:27258000-27261800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
4	chr6:27258400-27261200	Weak transcription	HMEC	breast
5	chr6:27258800-27261000	Weak transcription	A549	lung
6	chr6:27259200-27260000	Enhancers	K562	blood
7	chr6:27259200-27261200	Weak transcription	NHEK	skin
8	chr6:27259400-27261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:27259400-27261200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:27259400-27263400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27259400-27263600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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