Variant report

Variant	rs6469837
Chromosome Location	chr8:120654851-120654852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:120653231-120656828	SK-N-SH	brain:	n/a	chr8:120654956-120654966 chr8:120653719-120653729 chr8:120654393-120654402 chr8:120653560-120653574

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120464324..120466274-chr8:120652065..120654890,2	MCF-7	breast:
2	chr8:120521664..120522499-chr8:120654544..120655138,2	MCF-7	breast:

Variant related genes	Relation type
ENPP2	TF binding region

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11775668	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778951	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786983	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871419	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871420	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58361300	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168593	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984417	0.89[ASN][1000 genomes]
rs6989212	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6996637	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996969	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837894	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839329	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7840386	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs965301	1.00[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
rs6469837	ENPP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120651400-120656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:120651800-120656800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:120651800-120657400	Weak transcription	Placenta	Placenta
4	chr8:120651800-120667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:120652000-120656600	Enhancers	Fetal Lung	lung
6	chr8:120652200-120655200	Enhancers	Primary hematopoietic stem cells	blood
7	chr8:120652200-120656600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr8:120652200-120657400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:120652200-120657600	Enhancers	Brain Substantia Nigra	brain
10	chr8:120652400-120655200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:120652400-120655400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:120652400-120655600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:120652400-120655600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:120652400-120655800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:120652400-120655800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:120652400-120656400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:120652600-120657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:120652800-120655600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:120653000-120656600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:120653400-120657800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:120653600-120655800	Enhancers	Primary T cells from cord blood	blood
22	chr8:120653800-120655000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:120653800-120655000	Enhancers	Primary B cells from cord blood	blood
24	chr8:120653800-120655000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:120653800-120655000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:120653800-120655000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:120653800-120655400	Enhancers	Primary B cells from peripheral blood	blood
28	chr8:120654000-120655200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr8:120654200-120655000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:120654200-120655600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr8:120654200-120655800	Weak transcription	Brain Anterior Caudate	brain
32	chr8:120654200-120658800	Enhancers	GM12878-XiMat	blood
33	chr8:120654400-120655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:120654400-120655000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:120654400-120655400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:120654600-120655000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr8:120654800-120655200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr8:120654800-120655200	Enhancers	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links