Variant report

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZKSCAN1	chr6:44280668-44281775	Hela-S3	cervix:	n/a	n/a
2	CHD1	chr6:44280097-44281802	IMR90	lung:	n/a	n/a
3	JUN	chr6:44280078-44281787	K562	blood:	n/a	n/a
4	CTCF	chr6:44281620-44281770	HPF	lung:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
2	chr6:43543539..43545353-chr6:44279457..44282197,2	K562	blood:
3	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:
4	chr6:44281673..44282583-chr6:102995671..102996294,2	MCF-7	breast:
5	chr6:44279512..44282294-chr6:44355146..44356851,3	MCF-7	breast:
6	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
7	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
8	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
9	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
10	chr6:44281326..44282860-chr6:44296235..44298156,2	K562	blood:
11	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
12	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
13	chr6:44222000..44226440-chr6:44278583..44281839,6	K562	blood:

No data

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1056092	0.86[EUR][1000 genomes]
rs1056093	1.00[ASW][hapmap];0.89[CEU][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56130549	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72862795	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7451189	0.86[EUR][1000 genomes]
rs9472246	0.86[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv522456	chr6:44281716-44288847	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs17209560	TCTE1	cis	cerebellum	SCAN
rs17209560	APOBEC2	cis	parietal	SCAN
rs17209560	C6orf223	cis	cerebellum	SCAN
rs17209560	CDC5L	cis	parietal	SCAN
rs17209560	CUL9	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44280400-44281800	Active TSS	Brain Cingulate Gyrus	brain
2	chr6:44280400-44281800	Active TSS	GM12878-XiMat	blood
3	chr6:44280600-44282000	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:44280800-44281800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr6:44281000-44281800	Enhancers	Fetal Heart	heart
6	chr6:44281200-44283200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:44281200-44283200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:44281400-44281800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr6:44281400-44283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr6:44281400-44283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:44281600-44281800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:44281600-44281800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr6:44281600-44283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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