Variant report

Variant	rs11651698
Chromosome Location	chr17:45932303-45932304
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: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	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
2	chr17:45931856..45934572-chr17:45940574..45944336,3	K562	blood:
3	chr17:45931240..45934148-chr17:45971745..45974291,3	MCF-7	breast:
4	chr17:45928961..45933138-chr17:45960892..45963467,3	K562	blood:
5	chr17:45921031..45932631-chr17:45970978..45975136,16	K562	blood:
6	chr17:45930221..45932836-chr17:45934311..45936272,2	MCF-7	breast:
7	chr17:45927380..45931249-chr17:45931939..45938449,12	K562	blood:
8	chr17:45932084..45934510-chr17:46047359..46049635,2	K562	blood:
9	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000264920	Chromatin interaction
ENSG00000264243	Chromatin interaction
ENSG00000108465	Chromatin interaction
ENSG00000266821	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs11079797	0.83[EUR][1000 genomes]
rs11079798	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2074185	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4794202	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4794204	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59715174	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62066132	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9903904	0.87[EUR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11651698	SCRN2	Cis_1M	lymphoblastoid	RTeQTL
rs11651698	SCRN2	cis	Esophagus Mucosa	GTEx
rs11651698	SCRN2	cis	Muscle Skeletal	GTEx
rs11651698	SCRN2	cis	lung	GTEx
rs11651698	SCRN2	cis	Skin Sun Exposed Lower leg	GTEx
rs11651698	SCRN2	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45930200-45933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:45930600-45932800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr17:45930800-45935600	Weak transcription	K562	blood
5	chr17:45931800-45932800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:45932200-45932400	Flanking Active TSS	Lung	lung
7	chr17:45932200-45933600	Bivalent Enhancer	Fetal Muscle Leg	muscle

Quick Search:

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

what's new

Quick links