Variant report

Variant	rs153057
Chromosome Location	chr16:69445062-69445063
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr16:69445029-69445194	GM12878	blood:	n/a	chr16:69445139-69445152
2	SPI1	chr16:69445041-69445272	HL-60	blood:	n/a	chr16:69445139-69445152

No.	Distal block	Cell Line	Cell type
1	chr16:69443146..69445573-chr16:69450268..69451919,2	K562	blood:
2	chr16:69442990..69445987-chr16:69760683..69763115,2	K562	blood:
3	chr16:69443174..69445616-chr16:69777591..69779832,2	K562	blood:
4	chr16:69420934..69422495-chr16:69444546..69446776,2	K562	blood:
5	chr16:69444037..69445839-chr16:69458072..69460449,2	K562	blood:

Variant related genes	Relation type
TERF2	TF binding region
ENSG00000262136	Chromatin interaction
ENSG00000103018	Chromatin interaction
ENSG00000181019	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs165970	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs246135	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs246145	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58148393	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8053043	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064808	chr16:69271190-69552951	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv542940	chr16:69271190-69552951	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv431514	chr16:69428599-69581699	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69438800-69447000	Weak transcription	Pancreas	Pancrea
2	chr16:69439000-69450600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:69439400-69451400	Weak transcription	Fetal Muscle Leg	muscle
4	chr16:69440000-69446200	Weak transcription	Esophagus	oesophagus
5	chr16:69440200-69451600	Weak transcription	Adipose Nuclei	Adipose
6	chr16:69441200-69449600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr16:69441800-69445400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr16:69442000-69445400	Enhancers	HMEC	breast
9	chr16:69442000-69445800	Weak transcription	K562	blood
10	chr16:69442600-69451400	Weak transcription	Spleen	Spleen
11	chr16:69442600-69451600	Weak transcription	Fetal Intestine Small	intestine
12	chr16:69443000-69451400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr16:69443400-69448800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr16:69443400-69449000	Weak transcription	Stomach Mucosa	stomach
15	chr16:69443800-69445400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:69443800-69445400	Enhancers	NHEK	skin
17	chr16:69444000-69445400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:69444000-69445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr16:69444200-69451200	Enhancers	HepG2	liver
20	chr16:69444400-69446600	Enhancers	Fetal Thymus	thymus
21	chr16:69444600-69445200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:69444600-69445400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr16:69444600-69451400	Weak transcription	Brain Anterior Caudate	brain
24	chr16:69444800-69445200	Enhancers	HUVEC	blood vessel
25	chr16:69444800-69445600	Enhancers	Hela-S3	cervix
26	chr16:69444800-69445800	Weak transcription	Osteobl	bone
27	chr16:69444800-69446400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:69444800-69447400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:69444800-69447400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:69444800-69447800	Enhancers	A549	lung
31	chr16:69444800-69451400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:69445000-69445400	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr16:69445000-69445400	Weak transcription	NH-A	brain
34	chr16:69445000-69445800	Enhancers	Placenta	Placenta

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