Variant report

Variant	rs16956248
Chromosome Location	chr16:82061909-82061910
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81992257..81994454-chr16:82060416..82062861,2	K562	blood:

Variant related genes	Relation type
ENSG00000260682	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11865006	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13333646	1.00[ASN][1000 genomes]
rs13333826	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16956130	1.00[CHB][hapmap]
rs16956174	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16956191	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs16956202	1.00[CHB][hapmap]
rs16956236	1.00[ASN][1000 genomes]
rs16956242	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28448330	1.00[ASN][1000 genomes]
rs28448747	0.83[ASN][1000 genomes]
rs28558197	0.94[ASN][1000 genomes]
rs28634487	0.94[ASN][1000 genomes]
rs2955159	0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs3111351	0.85[GIH][hapmap];1.00[JPT][hapmap]
rs34132140	0.88[ASN][1000 genomes]
rs36043523	1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap]
rs41530451	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap]
rs4262939	1.00[ASN][1000 genomes]
rs4536470	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[TSI][hapmap]
rs4541072	0.83[ASN][1000 genomes]
rs4628962	1.00[JPT][hapmap]
rs4636900	1.00[CHB][hapmap]
rs58097356	0.83[ASN][1000 genomes]
rs59151852	0.88[ASN][1000 genomes]
rs60200374	1.00[ASN][1000 genomes]
rs6564956	1.00[CHB][hapmap]
rs6564957	0.83[ASN][1000 genomes]
rs6564960	0.94[ASN][1000 genomes]
rs7188332	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7190839	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7193161	0.94[ASN][1000 genomes]
rs7194226	1.00[CHB][hapmap]
rs7195977	0.94[ASN][1000 genomes]
rs7196087	1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs7198264	1.00[ASN][1000 genomes]
rs7200696	1.00[JPT][hapmap]
rs7200711	1.00[JPT][hapmap]
rs7202378	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7205983	0.87[CHD][hapmap]
rs73600740	0.83[ASN][1000 genomes]
rs74029358	0.94[ASN][1000 genomes]
rs8046900	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8048305	1.00[ASN][1000 genomes]
rs8049910	1.00[CHB][hapmap]
rs8053337	0.83[ASN][1000 genomes]
rs8064052	1.00[ASN][1000 genomes]
rs8191112	1.00[JPT][hapmap]
rs8191135	1.00[JPT][hapmap]
rs8191155	1.00[JPT][hapmap]
rs8191158	1.00[JPT][hapmap]
rs8191159	0.93[GIH][hapmap];1.00[JPT][hapmap]
rs8191198	1.00[JPT][hapmap]
rs8191246	0.85[GIH][hapmap]
rs9921872	1.00[CHB][hapmap]
rs9933207	1.00[CHB][hapmap];1.00[CHD][hapmap]

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	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	esv3321716	chr16:82060451-82065049	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82058000-82065600	Weak transcription	Gastric	stomach
2	chr16:82058600-82062400	Enhancers	Duodenum Mucosa	Duodenum
3	chr16:82059400-82062200	Enhancers	Fetal Intestine Large	intestine
4	chr16:82060000-82062000	Enhancers	Fetal Intestine Small	intestine
5	chr16:82060600-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr16:82060600-82062200	Enhancers	NHEK	skin
7	chr16:82060800-82062000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:82060800-82062200	Enhancers	Liver	Liver
9	chr16:82061000-82062000	Enhancers	Stomach Mucosa	stomach
10	chr16:82061000-82066600	Weak transcription	Pancreas	Pancrea
11	chr16:82061000-82066800	Weak transcription	Esophagus	oesophagus
12	chr16:82061200-82062000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr16:82061400-82065000	Weak transcription	HMEC	breast
14	chr16:82061800-82062000	Enhancers	Small Intestine	intestine

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