Variant report

Variant	rs66612320
Chromosome Location	chr5:112306666-112306667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112263017..112264947-chr5:112304699..112307617,2	MCF-7	breast:
2	chr5:112304286..112307784-chr5:112309316..112313122,5	MCF-7	breast:
3	chr5:112305819..112307438-chr5:112325134..112326776,2	K562	blood:
4	chr5:112299891..112302551-chr5:112304057..112307148,4	K562	blood:

Variant related genes	Relation type
ENSG00000172795	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10478101	0.93[EUR][1000 genomes]
rs2080898	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2080899	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57874459	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6594653	0.91[EUR][1000 genomes]
rs6879139	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73229015	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019756	chr5:112242315-112325943	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1028759	chr5:112300490-112358514	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66612320	DCP2	cis	Nerve Tibial	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112294000-112311800	Weak transcription	Right Atrium	heart
2	chr5:112298200-112311800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112300000-112307000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:112300200-112311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:112304400-112309400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:112305600-112306800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:112305600-112306800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:112305600-112307000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:112305600-112308600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112305600-112309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:112305600-112309400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:112305600-112311600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:112305600-112311600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:112305600-112311600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:112305600-112311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:112305600-112311800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112305600-112312000	Weak transcription	Hela-S3	cervix
18	chr5:112305800-112306800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:112305800-112310400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:112305800-112311400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:112305800-112311600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr5:112305800-112311600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr5:112306000-112307000	Enhancers	GM12878-XiMat	blood
24	chr5:112306000-112309000	Weak transcription	K562	blood
25	chr5:112306000-112311000	Weak transcription	HepG2	liver
26	chr5:112306000-112311400	Weak transcription	A549	lung
27	chr5:112306000-112311600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:112306000-112311600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:112306000-112311800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:112306200-112308600	Weak transcription	Placenta	Placenta

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