Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:54574192..54576279-chr6:54583056..54585185,2	MCF-7	breast:
2	chr6:54573340..54575837-chr6:54587895..54589989,2	MCF-7	breast:
3	chr6:54574486..54577143-chr6:54710389..54712884,2	MCF-7	breast:
4	chr6:54571436..54575650-chr6:54710321..54713742,4	MCF-7	breast:
5	chr6:54574954..54578587-chr6:54580352..54583856,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168143	Chromatin interaction

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

rs_ID	r²[population]
rs12664791	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs1507108	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16885780	1.00[MEX][hapmap]
rs17682328	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs17682340	1.00[CEU][hapmap];0.87[TSI][hapmap]
rs2174144	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57404514	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60228786	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62414271	0.95[EUR][1000 genomes]
rs62414312	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62414315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62414316	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62414318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62414319	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62414351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62414352	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62414354	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7757553	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9464158	1.00[MEX][hapmap]
rs9474936	1.00[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16885880	NTS	trans	lymphoblastoid	seeQTL
rs16885880	AKAP7	trans	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54571400-54579800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:54575000-54576000	Enhancers	Brain Cingulate Gyrus	brain
3	chr6:54575200-54575600	Enhancers	Brain Hippocampus Middle	brain
4	chr6:54575200-54575600	Enhancers	Stomach Mucosa	stomach
5	chr6:54575200-54575800	Enhancers	Fetal Lung	lung
6	chr6:54575200-54575800	Enhancers	Fetal Muscle Leg	muscle
7	chr6:54575200-54576000	Enhancers	Brain Substantia Nigra	brain
8	chr6:54575200-54579600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr6:54575400-54575800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:54575400-54575800	Enhancers	Brain Anterior Caudate	brain
11	chr6:54575400-54575800	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr6:54575400-54575800	Enhancers	Fetal Heart	heart
13	chr6:54575400-54575800	Enhancers	Pancreas	Pancrea
14	chr6:54575400-54575800	Enhancers	Right Atrium	heart

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