Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82115526..82118305-chr16:82123989..82125939,2	K562	blood:

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10514523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1119933	0.83[EUR][1000 genomes]
rs11645641	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11645754	1.00[CHB][hapmap]
rs1364287	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559428	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981878	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981879	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955162	0.90[CHB][hapmap]
rs62046326	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046327	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs723012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723013	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8191243	0.86[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs8191248	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs996751	0.85[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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
2	chr16:82104400-82116400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr16:82104800-82124400	Weak transcription	Fetal Stomach	stomach
4	chr16:82108400-82116600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr16:82113000-82117000	Enhancers	HepG2	liver
6	chr16:82113200-82115800	Weak transcription	Fetal Intestine Small	intestine
7	chr16:82113200-82116600	Enhancers	Liver	Liver
8	chr16:82114200-82116600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr16:82114800-82116600	Weak transcription	Placenta	Placenta
10	chr16:82114800-82117200	Enhancers	HMEC	breast
11	chr16:82114800-82119400	Enhancers	Stomach Mucosa	stomach
12	chr16:82115000-82116800	Enhancers	NHEK	skin
13	chr16:82115000-82117200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:82115000-82117200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr16:82115000-82117200	Enhancers	NHDF-Ad	bronchial
16	chr16:82115200-82115800	Weak transcription	Fetal Intestine Large	intestine
17	chr16:82115400-82115800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:82115600-82116800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:82115600-82117400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:82115600-82117400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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