Variant report

Variant	rs8191135
Chromosome Location	chr16:82101827-82101828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr16:82100969-82101877	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:82094565..82097297-chr16:82099404..82102388,2	K562	blood:

Variant related genes	Relation type
ENSG00000261235	TF binding region
HSD17B2	TF binding region
ENSG00000261235	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11865006	1.00[JPT][hapmap]
rs13333826	1.00[JPT][hapmap]
rs16956161	1.00[EUR][1000 genomes]
rs16956202	1.00[EUR][1000 genomes]
rs16956242	1.00[JPT][hapmap]
rs16956248	1.00[JPT][hapmap]
rs2317419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2955159	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3111351	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs34132140	0.81[ASN][1000 genomes]
rs3922901	1.00[AMR][1000 genomes]
rs4536470	1.00[EUR][1000 genomes]
rs4541072	1.00[EUR][1000 genomes]
rs4628962	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs58097356	1.00[EUR][1000 genomes]
rs59151852	0.81[ASN][1000 genomes]
rs59976110	1.00[EUR][1000 genomes]
rs61537150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6564956	1.00[EUR][1000 genomes]
rs6564957	1.00[EUR][1000 genomes]
rs7186963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187059	1.00[AMR][1000 genomes]
rs7187298	1.00[EUR][1000 genomes]
rs7188332	1.00[JPT][hapmap]
rs7190839	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7194226	1.00[EUR][1000 genomes]
rs7196087	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7200696	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7200711	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7202378	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7202626	1.00[EUR][1000 genomes]
rs73600709	1.00[EUR][1000 genomes]
rs73600740	1.00[EUR][1000 genomes]
rs73603064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73603078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73603095	1.00[AMR][1000 genomes]
rs74029374	1.00[EUR][1000 genomes]
rs8046220	0.94[ASN][1000 genomes]
rs8046900	1.00[JPT][hapmap]
rs8053337	1.00[EUR][1000 genomes]
rs8191069	1.00[AMR][1000 genomes]
rs8191084	1.00[AMR][1000 genomes]
rs8191095	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8191112	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8191124	1.00[AMR][1000 genomes]
rs8191155	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8191158	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8191159	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8191164	1.00[AMR][1000 genomes]
rs8191178	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8191184	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8191198	1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8191207	1.00[EUR][1000 genomes]
rs8191211	1.00[EUR][1000 genomes]
rs8191220	1.00[EUR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82086200-82103800	Weak transcription	Gastric	stomach
2	chr16:82089400-82105800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr16:82089600-82103800	Weak transcription	Pancreas	Pancrea
4	chr16:82094600-82106200	Weak transcription	Lung	lung
5	chr16:82096400-82104000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr16:82097000-82104400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:82097400-82104000	Weak transcription	NHDF-Ad	bronchial
8	chr16:82097400-82116800	Weak transcription	Colonic Mucosa	Colon
9	chr16:82097600-82103800	Weak transcription	Esophagus	oesophagus
10	chr16:82097800-82103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr16:82099600-82108800	Strong transcription	Placenta	Placenta
12	chr16:82099800-82102000	Enhancers	Fetal Intestine Large	intestine
13	chr16:82100600-82102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:82101000-82104400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr16:82101000-82108400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr16:82101400-82103600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:82101400-82104200	Weak transcription	Fetal Stomach	stomach
18	chr16:82101600-82104400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:82101600-82104600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr16:82101800-82102000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:82101800-82102000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr16:82101800-82102200	Genic enhancers	Rectal Mucosa Donor 31	rectum
23	chr16:82101800-82102400	Genic enhancers	Fetal Intestine Small	intestine
24	chr16:82101800-82102600	Genic enhancers	HepG2	liver
25	chr16:82101800-82102800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr16:82101800-82103000	Strong transcription	Liver	Liver
27	chr16:82101800-82103600	Weak transcription	HSMMtube	muscle

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