Variant report

Variant	rs571113
Chromosome Location	chr12:118793418-118793419
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118789460..118791189-chr12:118792284..118794787,2	K562	blood:
2	chr12:118787708..118789568-chr12:118793165..118794977,2	MCF-7	breast:
3	chr12:118791808..118793496-chr12:118793653..118795159,2	K562	blood:
4	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
5	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:
6	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
7	chr12:118755879..118758733-chr12:118792249..118794715,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1092854	0.80[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap]
rs1151901	0.91[CHB][hapmap];0.88[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs1277175	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs2062522	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs353887	0.82[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap]
rs353896	0.82[ASW][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap]
rs364823	0.82[ASW][hapmap];0.81[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.95[MKK][hapmap];0.86[TSI][hapmap]
rs404566	0.87[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[JPT][hapmap]
rs410747	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs418941	0.90[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.93[JPT][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs461499	0.81[JPT][hapmap]
rs484838	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs492939	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs494005	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs503548	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs519480	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs523011	0.96[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs566437	0.80[AMR][1000 genomes]
rs575121	0.95[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs7136004	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7307953	0.80[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs7795	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs793596	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs571113	PEBP1	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118781000-118793600	Weak transcription	NHEK	skin
3	chr12:118783600-118794400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr12:118784200-118793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:118785000-118794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:118785400-118794600	Weak transcription	Aorta	Aorta
7	chr12:118786000-118794400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:118786200-118793600	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:118786200-118793600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:118786200-118793800	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:118786600-118793800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:118789200-118793600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:118791600-118794600	Weak transcription	HepG2	liver
14	chr12:118791600-118797400	Weak transcription	Gastric	stomach
15	chr12:118792000-118794200	ZNF genes & repeats	K562	blood
16	chr12:118792400-118796800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:118792600-118793600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:118792600-118793800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:118792600-118793800	Weak transcription	Thymus	Thymus
20	chr12:118792600-118794000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:118792600-118794400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:118792600-118794400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:118792600-118794400	Weak transcription	Fetal Thymus	thymus
24	chr12:118792600-118795000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:118792600-118795200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:118792600-118796000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:118792800-118793800	Weak transcription	Primary B cells from cord blood	blood
28	chr12:118792800-118794600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:118792800-118794600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:118792800-118795600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:118793000-118794000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:118793000-118794000	Genic enhancers	HSMM	muscle
33	chr12:118793000-118794200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr12:118793000-118794400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:118793000-118794600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr12:118793000-118795000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:118793000-118795600	Enhancers	NH-A	brain
38	chr12:118793000-118796200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:118793000-118799200	Enhancers	Osteobl	bone
40	chr12:118793200-118793600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:118793200-118793600	Enhancers	NHLF	lung
42	chr12:118793200-118793800	Enhancers	Liver	Liver
43	chr12:118793200-118794000	Flanking Active TSS	GM12878-XiMat	blood
44	chr12:118793200-118794000	Enhancers	HUVEC	blood vessel
45	chr12:118793200-118794200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:118793200-118794600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:118793200-118795200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr12:118793200-118795600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:118793200-118796400	Enhancers	Brain Angular Gyrus	brain
50	chr12:118793200-118796400	Enhancers	Fetal Intestine Small	intestine

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