Variant report

Variant	rs4144243
Chromosome Location	chr15:56281748-56281749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56279620..56282017-chr15:56535404..56538288,2	MCF-7	breast:
2	chr15:56275489..56278398-chr15:56279462..56282619,4	K562	blood:
3	chr15:56281435..56283774-chr15:56390486..56392704,2	MCF-7	breast:
4	chr15:56275489..56279024-chr15:56279462..56282619,5	K562	blood:

Variant related genes	Relation type
ENSG00000151575	Chromatin interaction
ENSG00000181827	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11635590	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12438057	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1509408	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036741	1.00[JPT][hapmap]
rs7181344	1.00[ASN][1000 genomes]
rs8032922	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4144243	PRTG	cis	Artery Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56229600-56282600	Weak transcription	NHLF	lung
2	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr15:56236800-56282800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:56248200-56285200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:56253600-56282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:56257600-56283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:56257600-56283800	Weak transcription	Primary T cells from cord blood	blood
8	chr15:56263800-56282400	Weak transcription	Fetal Intestine Small	intestine
9	chr15:56269400-56282400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:56272600-56284200	Weak transcription	Lung	lung
11	chr15:56273000-56283000	Weak transcription	HSMMtube	muscle
12	chr15:56274400-56283800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:56274400-56283800	Weak transcription	NH-A	brain
14	chr15:56274400-56284000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:56274800-56282800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:56274800-56282800	Weak transcription	A549	lung
17	chr15:56275400-56283000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:56275600-56284000	Weak transcription	Aorta	Aorta
19	chr15:56275600-56284200	Weak transcription	Left Ventricle	heart
20	chr15:56276400-56285000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr15:56276600-56282800	Weak transcription	NHDF-Ad	bronchial
22	chr15:56276600-56284000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:56276800-56282800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:56277000-56283600	Weak transcription	HMEC	breast
25	chr15:56277200-56282200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:56277200-56284200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:56277400-56283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:56277600-56282000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:56277600-56283000	Weak transcription	HUVEC	blood vessel
30	chr15:56277600-56283400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:56278200-56282400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:56278800-56282400	Weak transcription	NHEK	skin
33	chr15:56279200-56282600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr15:56279800-56282800	Weak transcription	K562	blood
35	chr15:56280000-56282800	Weak transcription	HepG2	liver
36	chr15:56280200-56284000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:56280400-56283800	Weak transcription	Dnd41	blood
38	chr15:56280400-56285200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr15:56280800-56282600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:56280800-56282800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:56280800-56282800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:56281000-56282200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:56281000-56283800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:56281400-56282800	Strong transcription	Hela-S3	cervix
45	chr15:56281600-56281800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:56281600-56282200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr15:56281600-56282200	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr15:56281600-56282200	Strong transcription	Osteobl	bone
49	chr15:56281600-56282400	Enhancers	Psoas Muscle	Psoas
50	chr15:56281600-56283000	Genic enhancers	Fetal Intestine Large	intestine

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