Variant report

Variant	rs6989212
Chromosome Location	chr8:120639570-120639571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11775668	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11778951	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11786983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17217893	0.82[CHB][hapmap]
rs4871419	0.88[EUR][1000 genomes]
rs4871420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871569	0.82[CHB][hapmap]
rs58361300	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59168593	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6469837	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996637	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996969	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7014683	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7837894	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839329	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840386	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs965301	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.99[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6989212	ENPP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120615000-120641800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
3	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
4	chr8:120627800-120649200	Weak transcription	NHLF	lung
5	chr8:120628200-120645400	Strong transcription	NHDF-Ad	bronchial
6	chr8:120633200-120645400	Weak transcription	Thymus	Thymus
7	chr8:120633400-120647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:120633800-120639800	Weak transcription	Left Ventricle	heart
9	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
10	chr8:120635200-120643000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr8:120635400-120644000	Weak transcription	Fetal Thymus	thymus
12	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:120635800-120647200	Weak transcription	Placenta	Placenta
15	chr8:120635800-120648600	Weak transcription	Osteobl	bone
16	chr8:120639000-120644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120639000-120645400	Weak transcription	Adipose Nuclei	Adipose
18	chr8:120639000-120645600	Weak transcription	Liver	Liver
19	chr8:120639200-120640600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr8:120639200-120641600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:120639200-120643600	Weak transcription	Fetal Lung	lung
22	chr8:120639200-120644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:120639200-120644000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:120639200-120645200	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:120639200-120645400	Weak transcription	Brain Substantia Nigra	brain
26	chr8:120639200-120645600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:120639200-120647200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:120639200-120647200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr8:120639200-120647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:120639400-120645200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:120639400-120647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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