Variant report

Variant	rs3888051
Chromosome Location	chr12:64216990-64216991
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:64216974-64217026	MCF-7	breast:	n/a	n/a
2	CTCF	chr12:64216921-64217088	GM19238	blood:	n/a	n/a
3	CTCF	chr12:64216948-64217051	K562	blood:	n/a	n/a
4	CTCF	chr12:64216990-64217060	GM10266	blood:	n/a	n/a
5	CTCF	chr12:64216853-64217113	GM12878	blood:	n/a	n/a
6	RAD21	chr12:64216820-64217134	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr12:64216887-64217067	GM12878	blood:	n/a	n/a
8	CTCF	chr12:64216978-64217019	GM12891	blood:	n/a	n/a
9	CTCF	chr12:64216877-64217092	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:64216972-64217072	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr12:64216927-64217037	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr12:64216849-64217155	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:64216959-64217004	Gliobla	brain:	n/a	n/a
14	CTCF	chr12:64216920-64217101	GM12878	blood:	n/a	n/a
15	RAD21	chr12:64216756-64217202	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:64216969-64217035	MCF-7	breast:	n/a	n/a
17	ZBTB33	chr12:64216919-64217320	K562	blood:	n/a	n/a
18	SP1	chr12:64216912-64217125	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr12:64216973-64217054	GM12892	blood:	n/a	n/a
20	CTCF	chr12:64216949-64217048	NHEK	skin:	n/a	n/a
21	CTCF	chr12:64216900-64217050	HEK293	kidney:	n/a	n/a
22	CTCF	chr12:64216900-64217050	GM12878	blood:	n/a	n/a
23	CTCF	chr12:64216984-64217050	Medullo	brain:	n/a	n/a
24	RAD21	chr12:64216900-64217045	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
TMEM5-AS1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12578452	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12578835	0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs12579794	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4497499	0.90[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs59823810	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7311353	0.91[ASN][1000 genomes]
rs73124614	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv746	chr12:64189444-64234966	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv976635	chr12:64215811-64218681	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64216000-64217000	Weak transcription	Lung	lung
2	chr12:64216000-64217200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:64216000-64217400	Weak transcription	Pancreas	Pancrea
4	chr12:64216000-64224200	Weak transcription	Aorta	Aorta
5	chr12:64216200-64217000	Enhancers	Liver	Liver
6	chr12:64216200-64217000	Enhancers	Placenta	Placenta
7	chr12:64216200-64217600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:64216200-64219600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:64216200-64237000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:64216400-64217400	Flanking Active TSS	HepG2	liver
11	chr12:64216400-64219200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:64216400-64219800	Weak transcription	Fetal Kidney	kidney
13	chr12:64216400-64220200	Weak transcription	Fetal Lung	lung
14	chr12:64216600-64217000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:64216600-64217000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:64216600-64217000	Enhancers	HMEC	breast
17	chr12:64216600-64217000	Enhancers	NHDF-Ad	bronchial
18	chr12:64216600-64217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:64216600-64217400	Enhancers	NHLF	lung
20	chr12:64216600-64217600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:64216600-64219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:64216600-64219600	Weak transcription	Osteobl	bone
23	chr12:64216800-64217000	Enhancers	NHEK	skin
24	chr12:64216800-64217200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:64216800-64217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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