Variant report

Variant	rs4398102
Chromosome Location	chr16:82104086-82104087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11642323	0.96[CEU][hapmap];0.84[JPT][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11648233	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs11860188	0.90[CEU][hapmap];0.82[CHB][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2873459	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2911422	0.83[EUR][1000 genomes]
rs2966245	0.96[CEU][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs3751860	1.00[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4497679	0.96[CEU][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564961	0.92[CEU][hapmap]
rs7498701	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8044837	0.89[CEU][hapmap]
rs8059915	0.88[CEU][hapmap]
rs8061074	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8061420	0.85[EUR][1000 genomes]
rs8191138	1.00[ASW][hapmap];0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8191148	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82089400-82105800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr16:82094600-82106200	Weak transcription	Lung	lung
3	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
5	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
6	chr16:82101000-82104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:82101000-82108400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr16:82101400-82104200	Weak transcription	Fetal Stomach	stomach
9	chr16:82101600-82104400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr16:82101600-82104600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:82102000-82104400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr16:82102000-82104400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:82102400-82107200	Strong transcription	Fetal Intestine Small	intestine
14	chr16:82102400-82107600	Strong transcription	Fetal Intestine Large	intestine
15	chr16:82102600-82108200	Strong transcription	HepG2	liver
16	chr16:82103000-82106600	Genic enhancers	Liver	Liver
17	chr16:82103400-82105000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr16:82103400-82106800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr16:82103600-82104400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr16:82103600-82104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:82103600-82105200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr16:82103600-82106400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:82103800-82104800	Enhancers	Esophagus	oesophagus
24	chr16:82103800-82105400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr16:82103800-82105400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:82103800-82105400	Enhancers	Gastric	stomach
27	chr16:82103800-82106400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:82104000-82104400	Enhancers	HMEC	breast
29	chr16:82104000-82105400	Flanking Active TSS	HSMMtube	muscle
30	chr16:82104000-82105400	Enhancers	NHDF-Ad	bronchial
31	chr16:82104000-82105800	Enhancers	HSMM	muscle
32	chr16:82104000-82105800	Flanking Active TSS	NHEK	skin
33	chr16:82104000-82106000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr16:82104000-82106400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:82104000-82106600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr16:82104000-82106600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:82104000-82110200	Weak transcription	Pancreas	Pancrea

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