Variant report

Variant	rs12926413
Chromosome Location	chr16:71972325-71972326
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	chr16:71967972..71970520-chr16:71970736..71973104,2	K562	blood:
2	chr16:71970740..71973966-chr16:71975029..71978024,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12373065	0.81[EUR][1000 genomes]
rs12923797	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34400689	0.94[AMR][1000 genomes]
rs35203704	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35989134	1.00[AFR][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	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr16:71963200-71972800	Weak transcription	Right Ventricle	heart
2	chr16:71968400-71976400	Weak transcription	K562	blood
3	chr16:71968600-71972600	Weak transcription	Left Ventricle	heart
4	chr16:71968800-71972400	Weak transcription	Fetal Intestine Small	intestine
5	chr16:71968800-71972400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
7	chr16:71969200-71976000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr16:71969400-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr16:71969600-71972400	Weak transcription	Brain Germinal Matrix	brain
10	chr16:71969600-71973400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:71969600-71974200	Weak transcription	HSMM	muscle
12	chr16:71969600-71974400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:71969600-71975400	Weak transcription	HSMMtube	muscle
14	chr16:71969600-71977400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr16:71969600-71977400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:71969600-71978000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
18	chr16:71969600-71999200	Weak transcription	Liver	Liver
19	chr16:71969800-71972400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:71969800-71977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:71969800-71980600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr16:71970000-71972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:71970000-71972800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:71970000-71973000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr16:71970800-71973200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:71971200-71972400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr16:71971600-71972400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:71971600-71973200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr16:71971800-71972600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr16:71971800-71973000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr16:71971800-71974400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:71972000-71972400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:71972000-71972400	Flanking Active TSS	HepG2	liver
34	chr16:71972000-71972600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:71972000-71972600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:71972000-71973400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:71972200-71972400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr16:71972200-71972400	Enhancers	Skeletal Muscle Female	skeletal muscle

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