Variant report

Variant	rs7837894
Chromosome Location	chr8:120648375-120648376
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10108101	1.00[JPT][hapmap]
rs11775668	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11778951	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11786983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996390	1.00[JPT][hapmap]
rs1355174	1.00[JPT][hapmap]
rs16893214	1.00[JPT][hapmap]
rs17217893	0.82[CHB][hapmap]
rs17818097	1.00[JPT][hapmap]
rs17818440	1.00[JPT][hapmap]
rs17818446	1.00[JPT][hapmap]
rs17818842	1.00[JPT][hapmap]
rs2063283	1.00[JPT][hapmap]
rs2063284	1.00[JPT][hapmap]
rs4871419	0.89[EUR][1000 genomes]
rs4871420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871569	0.82[CHB][hapmap]
rs58361300	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59168593	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469845	1.00[JPT][hapmap]
rs6989212	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]
rs6989803	1.00[JPT][hapmap]
rs6994085	1.00[JPT][hapmap]
rs6996637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6996969	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999808	1.00[JPT][hapmap]
rs7002501	1.00[JPT][hapmap]
rs7003687	1.00[JPT][hapmap]
rs7007970	1.00[JPT][hapmap]
rs7014683	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815389	1.00[JPT][hapmap]
rs7827811	1.00[JPT][hapmap]
rs7828086	1.00[JPT][hapmap]
rs7839329	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840386	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297606	1.00[JPT][hapmap]
rs953614	1.00[JPT][hapmap]
rs9650078	1.00[JPT][hapmap]
rs965301	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][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
rs7837894	ENPP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120627800-120649200	Weak transcription	NHLF	lung
2	chr8:120634800-120650000	Weak transcription	Primary T cells from cord blood	blood
3	chr8:120635400-120649200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:120635400-120649400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:120635800-120648600	Weak transcription	Osteobl	bone
6	chr8:120644600-120649400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:120645200-120650600	Enhancers	Brain Hippocampus Middle	brain
8	chr8:120645600-120649600	Weak transcription	Thymus	Thymus
9	chr8:120645800-120649400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:120645800-120650400	Weak transcription	GM12878-XiMat	blood
11	chr8:120646200-120649200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:120646600-120650600	Weak transcription	Psoas Muscle	Psoas
13	chr8:120647200-120648400	Enhancers	Liver	Liver
14	chr8:120647200-120648400	Enhancers	Brain Anterior Caudate	brain
15	chr8:120647200-120648600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:120647200-120648800	Enhancers	HepG2	liver
17	chr8:120647200-120649600	Active TSS	Duodenum Mucosa	Duodenum
18	chr8:120647200-120650000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:120647200-120650200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:120647200-120650600	Enhancers	Brain Substantia Nigra	brain
21	chr8:120647200-120650600	Enhancers	Fetal Thymus	thymus
22	chr8:120647200-120650800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:120647200-120651800	Active TSS	Placenta	Placenta
24	chr8:120647400-120650600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:120647600-120648600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
26	chr8:120647600-120650000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:120647600-120651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:120647800-120649000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:120647800-120650000	Active TSS	Adipose Nuclei	Adipose
30	chr8:120647800-120652400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:120648000-120648400	Flanking Active TSS	Fetal Lung	lung
32	chr8:120648000-120649000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:120648000-120650600	Enhancers	Brain Angular Gyrus	brain
34	chr8:120648200-120648400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:120648200-120648400	Enhancers	Fetal Intestine Large	intestine
36	chr8:120648200-120648400	Enhancers	Small Intestine	intestine
37	chr8:120648200-120648600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:120648200-120648600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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