Variant report

Variant	rs12453958
Chromosome Location	chr17:46080255-46080256
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45978418..45980535-chr17:46078748..46080389,2	MCF-7	breast:
2	chr17:46062331..46065308-chr17:46079122..46082112,2	K562	blood:
3	chr17:46024513..46026415-chr17:46079474..46081019,2	K562	blood:
4	chr17:46077674..46080583-chr17:46085279..46087507,2	MCF-7	breast:
5	chr17:46080200..46080836-chr17:46095623..46096407,2	K562	blood:
6	chr17:45973409..45975008-chr17:46079906..46081781,2	K562	blood:
7	chr17:46067363..46070212-chr17:46079475..46083776,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167182	Chromatin interaction
ENSG00000264019	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12450849	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12452989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2525099	1.00[EUR][1000 genomes]
rs2525100	1.00[EUR][1000 genomes]
rs60163848	1.00[EUR][1000 genomes]
rs60876341	1.00[EUR][1000 genomes]
rs61521088	1.00[EUR][1000 genomes]
rs73321620	1.00[EUR][1000 genomes]
rs73321625	1.00[EUR][1000 genomes]
rs73321628	1.00[EUR][1000 genomes]
rs73321689	1.00[EUR][1000 genomes]
rs73985431	1.00[EUR][1000 genomes]
rs9889272	1.00[EUR][1000 genomes]
rs9899629	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9907614	1.00[EUR][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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46073400-46081000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:46076400-46084600	Enhancers	Fetal Brain Male	brain
3	chr17:46076800-46085600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:46077000-46084000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:46077400-46080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:46078400-46083200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:46078600-46083000	Enhancers	HSMMtube	muscle
8	chr17:46078800-46080400	Enhancers	Brain Germinal Matrix	brain
9	chr17:46078800-46080600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:46078800-46081600	Enhancers	Brain Cingulate Gyrus	brain
11	chr17:46078800-46082800	Enhancers	Fetal Stomach	stomach
12	chr17:46078800-46083000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:46078800-46084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:46078800-46084800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr17:46079000-46080400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:46079000-46080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:46079000-46080600	Enhancers	Primary B cells from cord blood	blood
18	chr17:46079000-46081800	Enhancers	Adipose Nuclei	Adipose
19	chr17:46079000-46083000	Enhancers	Placenta	Placenta
20	chr17:46079200-46081400	Enhancers	Fetal Muscle Trunk	muscle
21	chr17:46079200-46082600	Enhancers	Fetal Muscle Leg	muscle
22	chr17:46079200-46083800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr17:46079200-46083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:46079400-46080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr17:46079400-46080600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr17:46079400-46080600	Enhancers	Lung	lung
27	chr17:46079400-46080800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:46079400-46082800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr17:46079600-46080400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr17:46079600-46080400	Flanking Active TSS	GM12878-XiMat	blood
31	chr17:46079600-46080600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:46079600-46080600	Enhancers	Colonic Mucosa	Colon
33	chr17:46079600-46080600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr17:46079600-46080600	Enhancers	Right Atrium	heart
35	chr17:46079600-46080600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr17:46079600-46080600	Enhancers	HepG2	liver
37	chr17:46079600-46080600	Enhancers	NHLF	lung
38	chr17:46079600-46080800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr17:46079600-46080800	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:46079600-46080800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr17:46079600-46080800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:46079600-46080800	Enhancers	Esophagus	oesophagus
43	chr17:46079600-46080800	Enhancers	Fetal Intestine Large	intestine
44	chr17:46079600-46080800	Enhancers	HMEC	breast
45	chr17:46079600-46081000	Enhancers	Brain Angular Gyrus	brain
46	chr17:46079600-46081000	Enhancers	Fetal Intestine Small	intestine
47	chr17:46079600-46081200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:46079600-46081200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr17:46079600-46081400	Enhancers	Fetal Lung	lung
50	chr17:46079600-46081400	Enhancers	Fetal Thymus	thymus

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