Variant report

Variant	rs3847318
Chromosome Location	chr9:94943562-94943563
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94939916..94941677-chr9:94943459..94945410,2	K562	blood:
2	chr9:94942048..94944825-chr9:94955253..94957515,2	MCF-7	breast:
3	chr9:94874983..94876627-chr9:94942419..94945391,2	K562	blood:
4	chr9:94939871..94945930-chr9:94946587..94952427,7	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4743863	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7023755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active 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 miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv917089	chr9:94857047-95099848	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv969760	chr9:94877924-94966209	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv893572	chr9:94891778-94944778	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3847318	CENPP	cis	Artery Tibial	GTEx
rs3847318	CENPP	cis	Muscle Skeletal	GTEx
rs3847318	CENPP	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94938600-94943800	Weak transcription	Gastric	stomach
2	chr9:94941400-94944000	Enhancers	Fetal Muscle Leg	muscle
3	chr9:94941400-94944000	Enhancers	K562	blood
4	chr9:94941400-94944200	Enhancers	HSMMtube	muscle
5	chr9:94941600-94944000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:94942400-94944000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:94942400-94944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:94942600-94943800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:94942600-94943800	Enhancers	Duodenum Mucosa	Duodenum
10	chr9:94942600-94944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:94942600-94944000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr9:94942600-94944000	Enhancers	Placenta	Placenta
13	chr9:94942600-94944000	Enhancers	GM12878-XiMat	blood
14	chr9:94942600-94944000	Enhancers	HSMM	muscle
15	chr9:94942600-94944200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr9:94942800-94943800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:94942800-94943800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr9:94942800-94943800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:94942800-94943800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:94942800-94943800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr9:94942800-94943800	Enhancers	NH-A	brain
22	chr9:94942800-94943800	Enhancers	NHDF-Ad	bronchial
23	chr9:94942800-94943800	Enhancers	Osteobl	bone
24	chr9:94942800-94944000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr9:94942800-94944000	Enhancers	Fetal Stomach	stomach
26	chr9:94942800-94944000	Enhancers	NHLF	lung
27	chr9:94942800-94944200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:94943000-94943600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr9:94943000-94943600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr9:94943000-94943600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:94943000-94943800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:94943000-94944000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr9:94943000-94944200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:94943200-94943600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:94943200-94943600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:94943200-94943600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:94943200-94943600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr9:94943200-94943800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr9:94943400-94943800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:94943400-94943800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:94943400-94943800	Enhancers	Spleen	Spleen
42	chr9:94943400-94943800	Enhancers	HepG2	liver
43	chr9:94943400-94944000	Enhancers	Primary hematopoietic stem cells	blood

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