Variant report

Variant	rs12914012
Chromosome Location	chr15:75251338-75251339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr15:75250423-75251765	PANC-1	pancreas:	n/a	n/a
2	TCF12	chr15:75250391-75251417	A549	lung:	n/a	n/a
3	ELF1	chr15:75250635-75251402	MCF-7	breast:	n/a	chr15:75250972-75250985 chr15:75250805-75250817
4	CTCF	chr15:75248287-75251407	A549	lung:	n/a	chr15:75251113-75251122
5	HNF4G	chr15:75250857-75251342	HepG2	liver:	n/a	chr15:75251067-75251082
6	POLR2A	chr15:75250462-75251429	PANC-1	pancreas:	n/a	n/a
7	SIN3A	chr15:75250734-75251801	H1-hESC	embryonic stem cell:	n/a	chr15:75251749-75251760
8	ZNF143	chr15:75250927-75251545	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr15:75250313-75251960	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr15:75250371-75251374	PANC-1	pancreas:	n/a	n/a
11	CTBP2	chr15:75250826-75251766	H1-hESC	embryonic stem cell:	n/a	n/a
12	YY1	chr15:75250927-75251339	HepG2	liver:	n/a	chr15:75251056-75251070

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75250034..75252437-chr15:75257925..75259887,2	K562	blood:
2	chr15:75226056..75232063-chr15:75248745..75252832,9	MCF-7	breast:
3	chr15:75248197..75251380-chr15:75494107..75498676,4	MCF-7	breast:
4	chr15:75226664..75233309-chr15:75245862..75252227,16	K562	blood:
5	chr15:75181382..75185367-chr15:75245501..75252189,8	K562	blood:
6	chr15:75129762..75131472-chr15:75249225..75252165,2	K562	blood:
7	chr15:75134593..75136676-chr15:75247766..75251919,4	MCF-7	breast:
8	chr15:75250875..75251506-chr3:149375277..149375820,2	Hela-S3	cervix:
9	chr15:75249199..75251809-chr15:75494359..75496397,2	K562	blood:
10	chr15:75250701..75253480-chr15:75254260..75256998,2	K562	blood:
11	chr15:75250762..75251638-chr22:50246556..50247418,2	Hela-S3	cervix:
12	chr15:75194037..75196796-chr15:75249908..75252544,2	K562	blood:
13	chr15:75247469..75252493-chr15:75314645..75318771,7	MCF-7	breast:

No data

Variant related genes	Relation type
RPP25	TF binding region
ENSG00000167173	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000138621	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000018408	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12905239	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12908078	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12910275	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71401605	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75246800-75251800	Flanking Active TSS	HUVEC	blood vessel
2	chr15:75247400-75251600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr15:75247600-75252000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:75247800-75251800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:75247800-75252400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr15:75248200-75252200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:75248200-75252200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:75248200-75252400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:75248400-75251800	Active TSS	Aorta	Aorta
10	chr15:75248400-75251800	Active TSS	NHDF-Ad	bronchial
11	chr15:75249200-75251400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:75249400-75251400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:75249400-75251600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
14	chr15:75249400-75251800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
15	chr15:75249400-75251800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr15:75249400-75251800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
17	chr15:75249400-75252200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr15:75249600-75251600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:75249600-75251600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:75249600-75252000	Bivalent Enhancer	Primary B cells from cord blood	blood
21	chr15:75249600-75252200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:75249600-75252200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:75249800-75251600	Flanking Bivalent TSS/Enh	Placenta	Placenta
24	chr15:75249800-75251800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:75249800-75252000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:75249800-75252000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:75250000-75251400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:75250000-75251600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:75250000-75251600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:75250000-75251600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
31	chr15:75250000-75251600	Bivalent Enhancer	Fetal Thymus	thymus
32	chr15:75250000-75251600	Active TSS	Gastric	stomach
33	chr15:75250000-75251600	Bivalent/Poised TSS	Thymus	Thymus
34	chr15:75250000-75251800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr15:75250000-75251800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr15:75250000-75251800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr15:75250000-75251800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
38	chr15:75250000-75252000	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr15:75250000-75252200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr15:75250000-75252200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
41	chr15:75250200-75251400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:75250200-75251800	Bivalent Enhancer	Fetal Heart	heart
43	chr15:75250200-75251800	Bivalent/Poised TSS	Osteobl	bone
44	chr15:75250400-75251600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
45	chr15:75250400-75251600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
46	chr15:75250400-75251600	Flanking Active TSS	Hela-S3	cervix
47	chr15:75250400-75251600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
48	chr15:75250400-75251800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:75250400-75252200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:75250600-75251400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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