Variant report

Variant	rs9956121
Chromosome Location	chr18:8424547-8424548
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12957274	0.90[CEU][hapmap];0.96[TSI][hapmap];0.81[EUR][1000 genomes]
rs12968293	0.80[EUR][1000 genomes]
rs593445	0.84[EUR][1000 genomes]
rs652669	0.90[CEU][hapmap];0.96[TSI][hapmap]
rs658901	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv909361	chr18:8364598-8446393	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv458022	chr18:8417484-8471457	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv576429	chr18:8417484-8471457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9956121	PPP4R1	cis	cerebellum	SCAN
rs9956121	ANKRD12	cis	cerebellum	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8422400-8426000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:8423000-8426400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:8423200-8425200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr18:8423200-8426200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:8423600-8424600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr18:8423600-8424600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:8423600-8425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr18:8423600-8425000	Weak transcription	HSMMtube	muscle
9	chr18:8423600-8425400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr18:8423600-8425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr18:8423600-8433600	Weak transcription	Right Atrium	heart
12	chr18:8423800-8424800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:8423800-8424800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:8423800-8424800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr18:8423800-8424800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr18:8423800-8424800	Weak transcription	HMEC	breast
17	chr18:8423800-8425000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8423800-8425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr18:8423800-8425000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:8423800-8425000	Weak transcription	Osteobl	bone
21	chr18:8423800-8425200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr18:8423800-8425200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr18:8423800-8425200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr18:8423800-8425200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr18:8423800-8425200	Weak transcription	HSMM	muscle
26	chr18:8423800-8425200	Weak transcription	NHDF-Ad	bronchial
27	chr18:8424000-8425000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr18:8424200-8424600	Weak transcription	NHEK	skin
29	chr18:8424400-8425400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:8424400-8426000	Enhancers	NH-A	brain
31	chr18:8424400-8426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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