Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:117456791..117459697-chr9:117463060..117464661,2	K562	blood:
2	chr9:117456868..117459697-chr9:117461590..117464560,2	K562	blood:

Variant related genes	Relation type
ENSG00000230284	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1077159	0.97[ASN][1000 genomes]
rs11788229	0.86[ASN][1000 genomes]
rs11789008	0.86[ASN][1000 genomes]
rs11789211	0.97[ASN][1000 genomes]
rs11791529	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11791534	0.86[ASN][1000 genomes]
rs11793039	0.92[ASW][hapmap];1.00[CEU][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793258	0.97[ASN][1000 genomes]
rs11793753	0.84[ASW][hapmap];0.86[LWK][hapmap];0.87[MKK][hapmap];0.82[AFR][1000 genomes]
rs11794234	0.86[ASN][1000 genomes]
rs11794319	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs11794322	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs16930926	0.97[ASN][1000 genomes]
rs16930928	0.82[AFR][1000 genomes]
rs17237046	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17810013	0.97[ASN][1000 genomes]
rs62579741	0.86[ASN][1000 genomes]
rs62579742	0.86[ASN][1000 genomes]
rs62579744	0.94[ASN][1000 genomes]
rs7849811	0.97[ASN][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	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv893766	chr9:117385992-117516418	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1042718	chr9:117435306-117488969	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17816047	DEC1	cis	parietal	SCAN
rs17816047	ROD1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117460000-117464400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:117462200-117471600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:117463400-117464800	Enhancers	Hela-S3	cervix
4	chr9:117463800-117465000	Enhancers	HSMM	muscle
5	chr9:117464000-117464400	Enhancers	HSMMtube	muscle
6	chr9:117464000-117464800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:117464000-117464800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr9:117464200-117464800	Enhancers	NHDF-Ad	bronchial

Quick Search: