Variant report

Variant	rs6984417
Chromosome Location	chr8:120687669-120687670
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11775668	0.89[ASN][1000 genomes]
rs11778951	0.89[ASN][1000 genomes]
rs34662410	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4871419	0.87[ASN][1000 genomes]
rs58361300	0.89[ASN][1000 genomes]
rs59168593	0.89[ASN][1000 genomes]
rs6469837	0.89[ASN][1000 genomes]
rs6996637	0.89[ASN][1000 genomes]
rs6996969	0.89[ASN][1000 genomes]
rs7014683	0.89[ASN][1000 genomes]
rs7840386	0.89[ASN][1000 genomes]
rs965301	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6984417	ENPP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120685600-120690000	Weak transcription	NHDF-Ad	bronchial
2	chr8:120685800-120690000	Weak transcription	Placenta	Placenta
3	chr8:120686000-120688000	Weak transcription	Liver	Liver
4	chr8:120686000-120689800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:120686000-120696800	Weak transcription	Aorta	Aorta
6	chr8:120686200-120688200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:120686200-120688400	Weak transcription	Ovary	ovary
8	chr8:120686200-120690000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:120686600-120688000	Weak transcription	Adipose Nuclei	Adipose
10	chr8:120686600-120689800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:120687000-120688000	Weak transcription	Fetal Lung	lung
12	chr8:120687000-120690000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:120687000-120690200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:120687000-120697200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:120687200-120688200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:120687200-120688400	Weak transcription	Brain Anterior Caudate	brain
17	chr8:120687200-120688400	Enhancers	Brain Hippocampus Middle	brain
18	chr8:120687200-120688600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:120687200-120688800	Enhancers	Brain Substantia Nigra	brain
20	chr8:120687400-120688600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:120687400-120690000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:120687400-120692400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:120687600-120688600	Enhancers	Primary hematopoietic stem cells	blood
24	chr8:120687600-120688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:120687600-120689600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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