Variant report

Variant	rs397870
Chromosome Location	chr16:12049532-12049533
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs397181	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs412565	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs416883	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs450700	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs451551	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs637136	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042660	chr16:11846873-12110435	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv571458	chr16:11925008-12087282	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	esv3379697	chr16:12011449-12049700	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
6	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv571459	chr16:12046899-12062396	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3348644	chr16:12049176-12049636	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12040400-12065400	Weak transcription	Fetal Intestine Small	intestine
2	chr16:12042000-12049600	Weak transcription	A549	lung
3	chr16:12042200-12064400	Weak transcription	Fetal Stomach	stomach
4	chr16:12044800-12052400	Weak transcription	GM12878-XiMat	blood
5	chr16:12044800-12056400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:12048000-12049600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:12048600-12064800	Weak transcription	Thymus	Thymus
8	chr16:12048800-12049800	Enhancers	NHDF-Ad	bronchial
9	chr16:12049000-12049600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:12049000-12049600	Enhancers	Osteobl	bone
11	chr16:12049000-12049800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:12049000-12050200	Enhancers	NHLF	lung
13	chr16:12049000-12053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:12049200-12049600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr16:12049200-12049600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:12049200-12049600	Enhancers	Hela-S3	cervix
17	chr16:12049200-12050200	Enhancers	K562	blood
18	chr16:12049200-12050400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr16:12049200-12050800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:12049400-12049600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:12049400-12049600	Enhancers	NHEK	skin
22	chr16:12049400-12049800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:12049400-12050000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:12049400-12050000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:12049400-12050200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:12049400-12050200	Enhancers	HSMM	muscle

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