Variant report

Variant	rs795484
Chromosome Location	chr12:118589862-118589863
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118481881..118483634-chr12:118588470..118590195,2	MCF-7	breast:
2	chr12:118587254..118590333-chr12:118591083..118593849,3	K562	blood:
3	chr12:118581884..118587240-chr12:118588010..118590251,5	K562	blood:
4	chr12:118587720..118589870-chr12:118590427..118592560,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1051470	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1151900	0.90[MKK][hapmap];0.95[TSI][hapmap]
rs1277441	1.00[CEU][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.90[EUR][1000 genomes]
rs1277442	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1622210	0.92[EUR][1000 genomes]
rs1699160	0.84[ASW][hapmap];0.91[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap]
rs1726392	1.00[CEU][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.98[EUR][1000 genomes]
rs1726407	0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs191626	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2454761	0.96[ASN][1000 genomes]
rs2936839	0.98[ASN][1000 genomes]
rs353888	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs353893	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs353897	0.92[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs383371	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs428073	0.84[ASW][hapmap];0.86[CEU][hapmap];0.87[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap]
rs431038	0.91[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs556081	0.84[ASW][hapmap];0.91[CEU][hapmap];0.93[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap]
rs708867	0.95[CEU][hapmap]
rs708868	0.95[CEU][hapmap];0.90[TSI][hapmap]
rs795474	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs795475	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs795476	0.95[CEU][hapmap]
rs795478	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs795483	1.00[CEU][hapmap];0.92[YRI][hapmap];0.98[EUR][1000 genomes]
rs811247	0.95[CEU][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs904661	0.82[TSI][hapmap]
rs904662	0.92[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.82[TSI][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Morphine dose requirement in tonsillectomy and adenoidectomy surgery	24909733	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs795484	PLA2G1B	cis	cerebellum	SCAN
rs795484	PEBP1	cis	lymphoblastoid	seeQTL
rs795484	PEBP1	cis	cerebellum	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118575400-118590400	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:118575400-118590600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:118575400-118590600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:118575400-118591400	Strong transcription	Fetal Stomach	stomach
5	chr12:118575600-118601600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:118575800-118590400	Strong transcription	Lung	lung
7	chr12:118575800-118590600	Strong transcription	Fetal Muscle Leg	muscle
8	chr12:118575800-118590800	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr12:118576000-118591600	Strong transcription	Fetal Intestine Large	intestine
10	chr12:118576000-118591600	Strong transcription	Dnd41	blood
11	chr12:118576000-118601200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
14	chr12:118576200-118590400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:118576200-118590600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:118576200-118591000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:118576200-118591400	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:118576200-118595400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:118576400-118591400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:118576600-118590600	Strong transcription	Adipose Nuclei	Adipose
21	chr12:118576600-118590600	Strong transcription	Brain Germinal Matrix	brain
22	chr12:118577400-118601800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:118577600-118590800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:118577600-118599000	Weak transcription	Psoas Muscle	Psoas
25	chr12:118578000-118590800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr12:118580400-118590600	Strong transcription	Spleen	Spleen
29	chr12:118581400-118590400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:118583800-118595400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:118583800-118598000	Weak transcription	HUVEC	blood vessel
32	chr12:118584000-118590000	Weak transcription	Fetal Brain Male	brain
33	chr12:118584000-118591200	Strong transcription	Liver	Liver
34	chr12:118584000-118595000	Weak transcription	HSMMtube	muscle
35	chr12:118584000-118595200	Weak transcription	HSMM	muscle
36	chr12:118584000-118595600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:118584200-118595200	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:118584400-118591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:118584800-118591600	Strong transcription	Fetal Brain Female	brain
41	chr12:118585600-118590000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:118585600-118603000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:118585800-118590200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:118585800-118597400	Weak transcription	Hela-S3	cervix
45	chr12:118585800-118619000	Weak transcription	HepG2	liver
46	chr12:118586200-118590400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:118586200-118592200	Strong transcription	GM12878-XiMat	blood
48	chr12:118586200-118592400	Strong transcription	Primary B cells from cord blood	blood
49	chr12:118586200-118601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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