Variant report

Variant	rs6996637
Chromosome Location	chr8:120642505-120642506
allele	C/T
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:16)

rs_ID	r²[population]
rs11775668	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778951	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786983	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871419	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871420	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361300	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168593	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469837	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984417	0.89[ASN][1000 genomes]
rs6989212	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996969	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014683	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837894	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839329	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7840386	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965301	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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
rs6996637	ENPP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120619200-120648000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:120621800-120643400	Weak transcription	Aorta	Aorta
3	chr8:120627800-120649200	Weak transcription	NHLF	lung
4	chr8:120628200-120645400	Strong transcription	NHDF-Ad	bronchial
5	chr8:120633200-120645400	Weak transcription	Thymus	Thymus
6	chr8:120633400-120647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
8	chr8:120635200-120643000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:120635400-120644000	Weak transcription	Fetal Thymus	thymus
10	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:120635800-120647200	Weak transcription	Placenta	Placenta
13	chr8:120635800-120648600	Weak transcription	Osteobl	bone
14	chr8:120639000-120644000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:120639000-120645400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:120639000-120645600	Weak transcription	Liver	Liver
17	chr8:120639200-120643600	Weak transcription	Fetal Lung	lung
18	chr8:120639200-120644000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:120639200-120644000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr8:120639200-120645200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:120639200-120645400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:120639200-120645600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr8:120639200-120647200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:120639200-120647200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr8:120639200-120647400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:120639400-120645200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr8:120639400-120647000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:120641800-120647200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:120642000-120644200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:120642200-120646600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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