Variant report

Variant	rs73506159
Chromosome Location	chr16:12393679-12393680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:12389501..12392073-chr16:12392861..12394450,2	K562	blood:

Variant related genes	Relation type
ENSG00000238685	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16959190	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35304053	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58009694	0.85[AFR][1000 genomes]
rs58057419	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58903902	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60863961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7187378	1.00[AMR][1000 genomes]
rs73506118	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506134	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506135	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506141	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506152	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506162	1.00[AMR][1000 genomes]
rs73506164	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506185	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506193	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508036	0.81[AFR][1000 genomes]
rs8057983	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
3	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
4	chr16:12359800-12418000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
6	chr16:12372800-12393800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:12373400-12414200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr16:12373600-12396600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:12374000-12397400	Weak transcription	Ovary	ovary
10	chr16:12374200-12417200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12383200-12407800	Weak transcription	Gastric	stomach
12	chr16:12384000-12394600	Weak transcription	Lung	lung
13	chr16:12384200-12394600	Weak transcription	Spleen	Spleen
14	chr16:12384400-12409000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:12385000-12394400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr16:12385000-12394400	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr16:12385000-12394600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:12385000-12396400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr16:12385200-12394400	Weak transcription	Adipose Nuclei	Adipose
20	chr16:12385400-12399200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr16:12385800-12410800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:12386400-12401600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:12388000-12398600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr16:12388400-12395200	Weak transcription	Pancreas	Pancrea
25	chr16:12388600-12394000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:12388600-12394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12388600-12408200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:12388800-12394200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:12388800-12394400	Weak transcription	Primary B cells from cord blood	blood
30	chr16:12389200-12394600	Weak transcription	Left Ventricle	heart
31	chr16:12389400-12393800	Weak transcription	GM12878-XiMat	blood
32	chr16:12389400-12394600	Weak transcription	Esophagus	oesophagus
33	chr16:12389600-12394200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:12389800-12393800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:12389800-12394400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:12389800-12397400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr16:12389800-12398400	Weak transcription	NHEK	skin
38	chr16:12389800-12398800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr16:12391200-12397200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr16:12391200-12397600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr16:12392200-12394000	Weak transcription	Primary T cells from cord blood	blood
42	chr16:12392600-12394400	Weak transcription	Liver	Liver
43	chr16:12393200-12394200	Enhancers	Fetal Heart	heart

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