Variant report

Variant	rs71462848
Chromosome Location	chr15:33406150-33406151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12902782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12902884	1.00[AFR][1000 genomes]
rs12907653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12909898	1.00[AFR][1000 genomes]
rs12911519	1.00[AFR][1000 genomes]
rs12914708	1.00[AFR][1000 genomes]
rs12915870	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs16965470	1.00[ASN][1000 genomes]
rs17229048	1.00[AFR][1000 genomes]
rs17816892	1.00[ASN][1000 genomes]
rs17816898	1.00[ASN][1000 genomes]
rs17816904	0.90[ASN][1000 genomes]
rs34053978	1.00[AFR][1000 genomes]
rs34171151	1.00[AFR][1000 genomes]
rs34292665	1.00[AFR][1000 genomes]
rs34331348	1.00[AFR][1000 genomes]
rs34410148	0.87[AMR][1000 genomes]
rs34633722	0.90[ASN][1000 genomes]
rs34718785	1.00[AFR][1000 genomes]
rs34922363	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35060601	1.00[ASN][1000 genomes]
rs35158642	1.00[AFR][1000 genomes]
rs35187364	0.90[ASN][1000 genomes]
rs35414549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35493298	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35695671	0.90[ASN][1000 genomes]
rs35836585	0.90[ASN][1000 genomes]
rs35877923	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs36010988	0.90[ASN][1000 genomes]
rs36014025	1.00[ASN][1000 genomes]
rs71462838	1.00[AFR][1000 genomes]
rs71462844	1.00[AFR][1000 genomes]
rs71462846	1.00[AFR][1000 genomes]
rs71462849	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv903981	chr15:33207082-33550256	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv568918	chr15:33244672-33446971	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv903982	chr15:33282844-33616150	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv903983	chr15:33388030-33550256	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33398400-33406200	Weak transcription	Fetal Thymus	thymus
2	chr15:33403000-33406600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr15:33403600-33407600	Weak transcription	Fetal Heart	heart
4	chr15:33403600-33411400	Weak transcription	HSMM	muscle
5	chr15:33403800-33411400	Weak transcription	HSMMtube	muscle
6	chr15:33404000-33407400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:33404000-33407600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:33404000-33407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:33404000-33407800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr15:33404000-33407800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr15:33404000-33407800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:33404000-33408400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr15:33404800-33408000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:33405000-33407200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr15:33405200-33407600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:33405200-33407800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:33405200-33408000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:33405200-33409400	Weak transcription	Fetal Kidney	kidney
19	chr15:33405400-33407800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:33405600-33406400	Flanking Active TSS	NHLF	lung
21	chr15:33405800-33406400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:33405800-33406400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:33405800-33406400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:33405800-33406400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:33405800-33406400	Flanking Active TSS	Placenta	Placenta
26	chr15:33405800-33406400	Enhancers	Pancreas	Pancrea
27	chr15:33405800-33406800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:33405800-33407000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:33405800-33407800	Enhancers	Fetal Lung	lung
30	chr15:33406000-33406400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:33406000-33406400	Enhancers	Osteobl	bone
32	chr15:33406000-33406600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr15:33406000-33406600	Enhancers	NHEK	skin
34	chr15:33406000-33406800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:33406000-33407000	Enhancers	HMEC	breast

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