Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82127698..82130155-chr16:82130878..82132469,2	MCF-7	breast:

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

rs_ID	r²[population]
rs10514523	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.84[EUR][1000 genomes]
rs10514527	0.80[ASN][1000 genomes]
rs1119933	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11645641	0.83[EUR][1000 genomes]
rs11645754	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12445764	1.00[YRI][hapmap]
rs1364287	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1559428	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1981878	0.84[EUR][1000 genomes]
rs1981879	0.82[EUR][1000 genomes]
rs2955162	0.90[CHB][hapmap]
rs4274431	0.80[ASN][1000 genomes]
rs62046326	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62046327	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7196807	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs723012	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs723013	0.87[CEU][hapmap];0.90[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8191248	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs996751	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996752	0.89[AMR][1000 genomes];0.93[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	nsv1058368	chr16:82029516-82152788	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1061709	chr16:82093183-82159867	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8191243	NECAB2	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82118000-82135800	Weak transcription	Pancreas	Pancrea
2	chr16:82118600-82134800	Weak transcription	Colonic Mucosa	Colon
3	chr16:82119200-82135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr16:82122200-82134400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr16:82124000-82132600	Strong transcription	Liver	Liver
6	chr16:82126000-82141400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82126600-82131800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:82128000-82132000	Strong transcription	Fetal Intestine Small	intestine
9	chr16:82129600-82133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:82131000-82134000	Strong transcription	Placenta	Placenta
11	chr16:82131600-82132000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82131600-82132600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr16:82131600-82132600	Strong transcription	HepG2	liver
14	chr16:82131600-82133000	Strong transcription	Fetal Stomach	stomach
15	chr16:82131600-82134000	Strong transcription	Fetal Intestine Large	intestine
16	chr16:82131600-82134400	Strong transcription	Duodenum Mucosa	Duodenum

Quick Search: