Variant report

Variant	rs2966245
Chromosome Location	chr16:82106299-82106300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11642323	0.92[CEU][hapmap];0.83[JPT][hapmap];0.85[EUR][1000 genomes]
rs11648233	0.89[CEU][hapmap]
rs11860188	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs2042429	0.86[ASW][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.89[LWK][hapmap];0.83[MKK][hapmap];0.81[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2873459	0.95[EUR][1000 genomes]
rs2911422	0.84[JPT][hapmap];0.96[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3751860	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4398102	0.96[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs4445895	0.82[TSI][hapmap];0.82[YRI][hapmap]
rs4497679	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes]
rs6564961	0.89[CEU][hapmap];0.82[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs7498701	0.80[EUR][1000 genomes]
rs8044837	0.85[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8059915	0.92[CEU][hapmap];0.84[JPT][hapmap]
rs8061074	0.85[EUR][1000 genomes]
rs8061420	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8191138	0.92[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8191148	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8191159	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907012	chr16:81986896-82115148	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
2	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
3	chr16:82101000-82108400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr16:82102400-82107200	Strong transcription	Fetal Intestine Small	intestine
5	chr16:82102400-82107600	Strong transcription	Fetal Intestine Large	intestine
6	chr16:82102600-82108200	Strong transcription	HepG2	liver
7	chr16:82103000-82106600	Genic enhancers	Liver	Liver
8	chr16:82103400-82106800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr16:82103600-82106400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:82103800-82106400	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr16:82104000-82106400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:82104000-82106600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr16:82104000-82106600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:82104000-82110200	Weak transcription	Pancreas	Pancrea
15	chr16:82104400-82116400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:82104800-82106400	Enhancers	Stomach Mucosa	stomach
17	chr16:82104800-82124400	Weak transcription	Fetal Stomach	stomach
18	chr16:82105200-82115000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr16:82105400-82106400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:82105400-82106400	Enhancers	HSMMtube	muscle
21	chr16:82105400-82106600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82105400-82106600	Enhancers	HMEC	breast
23	chr16:82105800-82106400	Enhancers	NHEK	skin
24	chr16:82106200-82106400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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