Variant report

Variant	rs153058
Chromosome Location	chr16:69442832-69442833
allele	C/T
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	SP1	chr16:69441425-69443522	HCT-116	colon:	n/a	chr16:69442513-69442522 chr16:69442514-69442523 chr16:69442514-69442523
2	STAT3	chr16:69442456-69442864	MCF10A-Er-Src	breast:	n/a	chr16:69442596-69442608 chr16:69442673-69442684 chr16:69442714-69442722
3	MAX	chr16:69442090-69443413	HCT-116	colon:	n/a	chr16:69442560-69442569 chr16:69442561-69442570 chr16:69442562-69442569
4	STAT3	chr16:69442498-69442849	MCF10A-Er-Src	breast:	n/a	chr16:69442596-69442608 chr16:69442673-69442684 chr16:69442714-69442722
5	POLR2A	chr16:69442180-69442859	HCT-116	colon:	n/a	n/a
6	EGR1	chr16:69442259-69443414	HCT-116	colon:	n/a	n/a
7	MAX	chr16:69440634-69443468	HCT-116	colon:	n/a	chr16:69442560-69442569 chr16:69441041-69441051 chr16:69442561-69442570 chr16:69442562-69442569 chr16:69440977-69440987
8	POLR2A	chr16:69442167-69442976	Hela-S3	cervix:	n/a	n/a
9	STAT1	chr16:69442339-69442857	Hela-S3	cervix:	n/a	chr16:69442596-69442608 chr16:69442714-69442722
10	TEAD4	chr16:69442248-69442912	HCT-116	colon:	n/a	n/a
11	SP1	chr16:69442142-69443501	HCT-116	colon:	n/a	chr16:69442513-69442522 chr16:69442514-69442523 chr16:69442514-69442523
12	USF1	chr16:69442159-69442897	HCT-116	colon:	n/a	n/a
13	TEAD4	chr16:69442290-69442868	ECC-1	luminal epithelium:	n/a	n/a
14	EGR1	chr16:69442171-69443515	HCT-116	colon:	n/a	n/a
15	USF1	chr16:69442262-69442918	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69381456..69384122-chr16:69442476..69444543,2	K562	blood:

Variant related genes	Relation type
TERF2	TF binding region
ENSG00000157315	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11075720	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs246132	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs246138	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs246140	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246142	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246143	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs246144	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs246148	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3743670	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4783708	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6499227	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7185800	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206737	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8064195	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs862349	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69436600-69443200	Enhancers	Placenta	Placenta
2	chr16:69438800-69443600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:69438800-69443800	Weak transcription	Osteobl	bone
4	chr16:69438800-69444000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr16:69438800-69444200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:69438800-69444200	Weak transcription	Brain Anterior Caudate	brain
7	chr16:69438800-69447000	Weak transcription	Pancreas	Pancrea
8	chr16:69439000-69443600	Weak transcription	NHLF	lung
9	chr16:69439000-69450600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:69439400-69451400	Weak transcription	Fetal Muscle Leg	muscle
11	chr16:69440000-69443400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:69440000-69446200	Weak transcription	Esophagus	oesophagus
13	chr16:69440200-69444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr16:69440200-69444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr16:69440200-69444000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:69440200-69444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:69440200-69444200	Weak transcription	Fetal Lung	lung
18	chr16:69440200-69451600	Weak transcription	Adipose Nuclei	Adipose
19	chr16:69440800-69444000	Enhancers	A549	lung
20	chr16:69441000-69444200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:69441200-69449600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr16:69441400-69444200	Weak transcription	HepG2	liver
23	chr16:69441600-69443000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr16:69441600-69443200	Enhancers	HSMM	muscle
25	chr16:69441600-69444600	Enhancers	HSMMtube	muscle
26	chr16:69441800-69445400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:69442000-69445400	Enhancers	HMEC	breast
28	chr16:69442000-69445800	Weak transcription	K562	blood
29	chr16:69442200-69443400	Enhancers	Stomach Mucosa	stomach
30	chr16:69442400-69443000	Weak transcription	Colonic Mucosa	Colon
31	chr16:69442400-69443200	Enhancers	Left Ventricle	heart
32	chr16:69442400-69443400	Enhancers	Right Ventricle	heart
33	chr16:69442400-69444000	Enhancers	HUVEC	blood vessel
34	chr16:69442400-69444400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr16:69442400-69444400	Enhancers	NHDF-Ad	bronchial
36	chr16:69442400-69444800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:69442600-69443400	Weak transcription	Fetal Kidney	kidney
38	chr16:69442600-69444400	Enhancers	Hela-S3	cervix
39	chr16:69442600-69451400	Weak transcription	Spleen	Spleen
40	chr16:69442600-69451600	Weak transcription	Fetal Intestine Small	intestine
41	chr16:69442800-69443200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr16:69442800-69443800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr16:69442800-69443800	Weak transcription	NHEK	skin
44	chr16:69442800-69444000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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