Variant report

Variant	rs12444338
Chromosome Location	chr16:82660155-82660156
allele	G/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	POLR2A	chr16:82660122-82664796	U87	brain:	n/a	n/a
2	POLR2A	chr16:82660128-82664775	U87	brain:	n/a	n/a

Variant related genes	Relation type
CDH13	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10871434	0.80[ASN][1000 genomes]
rs12051213	0.91[ASN][1000 genomes]
rs12051272	0.93[ASN][1000 genomes]
rs12443878	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12596316	0.80[ASN][1000 genomes]
rs12598679	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1541928	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16957889	0.94[ASN][1000 genomes]
rs17175622	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17260630	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2239857	0.91[ASN][1000 genomes]
rs28597883	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3865188	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3865190	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4597315	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4782721	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4783241	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4783242	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4783244	0.91[ASN][1000 genomes]
rs7198176	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7202931	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs736718	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8051657	0.88[ASN][1000 genomes]
rs8060301	0.91[ASN][1000 genomes]
rs8062260	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9925671	0.91[ASN][1000 genomes]
rs9939683	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9940266	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1062787	chr16:82601618-82676019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv542998	chr16:82601618-82676019	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82650400-82660600	Weak transcription	Gastric	stomach
2	chr16:82657200-82660200	Weak transcription	Aorta	Aorta
3	chr16:82657200-82660200	Weak transcription	HSMMtube	muscle
4	chr16:82659000-82660400	Enhancers	Fetal Heart	heart
5	chr16:82659200-82660200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr16:82659800-82660200	Bivalent Enhancer	Fetal Stomach	stomach
7	chr16:82659800-82660200	Enhancers	Hela-S3	cervix
8	chr16:82659800-82660200	Bivalent Enhancer	NHLF	lung
9	chr16:82659800-82662200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:82660000-82660200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr16:82660000-82660200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr16:82660000-82660200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr16:82660000-82660200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr16:82660000-82660200	Bivalent Enhancer	Brain Germinal Matrix	brain
15	chr16:82660000-82660200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr16:82660000-82660200	Flanking Active TSS	HSMM	muscle
17	chr16:82660000-82660200	Enhancers	NHDF-Ad	bronchial
18	chr16:82660000-82660200	Enhancers	NHEK	skin
19	chr16:82660000-82660400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:82660000-82660400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:82660000-82660400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:82660000-82660400	Bivalent Enhancer	Fetal Brain Male	brain
23	chr16:82660000-82660400	Flanking Active TSS	HMEC	breast
24	chr16:82660000-82660600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr16:82660000-82660600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr16:82660000-82660600	Flanking Active TSS	HUVEC	blood vessel
27	chr16:82660000-82661400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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