Variant report

Variant	rs72760463
Chromosome Location	chr9:117931245-117931246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12115269	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115648	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115782	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12115788	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1414139	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537723	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1537724	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537725	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1537726	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16932313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760460	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72760465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72760469	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72762326	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72762328	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72762329	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72762332	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762335	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72762339	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953140	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv6681	chr9:117893926-117938609	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72760463	DEC1	cis	Nerve Tibial	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117922000-117944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:117926400-117931800	Enhancers	NHEK	skin
3	chr9:117926400-117933600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:117926600-117931600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:117927200-117931600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:117927200-117931800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr9:117927200-117932200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:117927200-117933000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:117927200-117933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:117927400-117932000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:117927400-117933000	Weak transcription	A549	lung
12	chr9:117929800-117932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:117930000-117932000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:117930000-117932600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:117930000-117964400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr9:117930200-117932800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:117930200-117932800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:117930200-117933000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:117930200-117933000	Weak transcription	NH-A	brain
20	chr9:117930200-117933000	Weak transcription	Osteobl	bone
21	chr9:117930400-117931600	Enhancers	Colon Smooth Muscle	Colon
22	chr9:117930400-117932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:117930400-117932800	Weak transcription	NHLF	lung
24	chr9:117930600-117932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr9:117930600-117932600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:117930600-117932800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:117930600-117932800	Weak transcription	HSMMtube	muscle
28	chr9:117930600-117933000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:117930600-117933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:117930600-117933000	Weak transcription	HSMM	muscle
31	chr9:117930800-117931400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr9:117930800-117932600	Weak transcription	HMEC	breast
33	chr9:117930800-117932800	Weak transcription	NHDF-Ad	bronchial

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