Variant report

Variant	rs12921529
Chromosome Location	chr16:12465661-12465662
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	chr16:12448404..12450435-chr16:12463465..12466291,2	K562	blood:

Variant related genes	Relation type
ENSG00000048471	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11639976	0.86[AMR][1000 genomes]
rs11649383	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2278057	0.86[CEU][hapmap]
rs4781212	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7185731	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes]
rs7189401	0.92[CEU][hapmap];0.81[EUR][1000 genomes];0.81[ASN][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:12443600-12470800	Weak transcription	HepG2	liver
3	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:12447600-12470000	Weak transcription	Esophagus	oesophagus
5	chr16:12448600-12471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:12450800-12470000	Weak transcription	Fetal Thymus	thymus
7	chr16:12453000-12470600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:12453200-12479000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr16:12453400-12467400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr16:12453400-12469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12454400-12469200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:12454600-12470800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:12455600-12479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:12456200-12470600	Weak transcription	NHEK	skin
15	chr16:12456800-12478600	Weak transcription	Ovary	ovary
16	chr16:12457000-12492400	Weak transcription	Lung	lung
17	chr16:12457400-12469000	Weak transcription	Brain Angular Gyrus	brain
18	chr16:12457400-12469000	Weak transcription	Brain Anterior Caudate	brain
19	chr16:12457400-12469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
23	chr16:12461000-12471200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:12461000-12471600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:12461000-12473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:12461200-12470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood
28	chr16:12462000-12470600	Weak transcription	Primary T cells from cord blood	blood
29	chr16:12462800-12470000	Weak transcription	Left Ventricle	heart
30	chr16:12463000-12466600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr16:12463000-12466800	Weak transcription	Primary B cells from cord blood	blood
32	chr16:12465000-12468200	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:12465200-12466200	Weak transcription	Adipose Nuclei	Adipose
34	chr16:12465200-12467800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:12465200-12467800	Weak transcription	Brain Substantia Nigra	brain
36	chr16:12465200-12470000	Weak transcription	Right Atrium	heart
37	chr16:12465400-12467800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr16:12465400-12470800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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