Variant report

Variant	rs2249015
Chromosome Location	chr8:120605652-120605653
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	SPI1	chr8:120605334-120605664	HL-60	blood:	n/a	chr8:120605444-120605451

Variant related genes	Relation type
ENPP2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12676315	0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs12678907	0.94[YRI][hapmap];0.86[AFR][1000 genomes]
rs17194431	0.85[ASW][hapmap];0.97[LWK][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes]
rs1992721	0.86[LWK][hapmap];0.89[YRI][hapmap]
rs2305126	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs2326304	0.90[YRI][hapmap];0.90[AFR][1000 genomes]
rs2326306	0.94[AFR][1000 genomes]
rs28668309	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3793378	0.83[LWK][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs6469835	0.85[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6982863	0.86[CEU][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7012253	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7012371	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs745383	1.00[CHB][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes]
rs7832704	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9297600	0.91[AFR][1000 genomes]
rs976423	0.95[CHB][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2249015	SNTB1	cis	parietal	SCAN
rs2249015	WDYHV1	cis	cerebellum	SCAN

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
8	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
9	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
10	chr8:120599200-120608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:120599400-120609000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:120599800-120609800	Weak transcription	Brain Angular Gyrus	brain
14	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:120600000-120610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
19	chr8:120600200-120609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:120601200-120608200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:120601200-120609000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:120601600-120609400	Weak transcription	Brain Substantia Nigra	brain
23	chr8:120601800-120606200	Strong transcription	Adipose Nuclei	Adipose
24	chr8:120601800-120610800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr8:120601800-120614600	Weak transcription	Osteobl	bone
26	chr8:120602000-120613400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:120602000-120614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr8:120602200-120606200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:120602800-120612400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:120603000-120613200	Strong transcription	NHDF-Ad	bronchial
32	chr8:120603400-120607600	Weak transcription	Placenta	Placenta
33	chr8:120603600-120606000	Strong transcription	Fetal Lung	lung
34	chr8:120603600-120608200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:120604800-120606000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr8:120605200-120607200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:120605400-120605800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:120605400-120606000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:120605400-120607800	Strong transcription	Liver	Liver
40	chr8:120605600-120605800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr8:120605600-120607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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