Variant report

Variant	rs12429099
Chromosome Location	chr13:48705603-48705604
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48705406..48707742-chr13:48718152..48719712,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1104351	1.00[JPT][hapmap]
rs11838539	0.82[EUR][1000 genomes]
rs12427516	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427964	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12428055	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429348	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429746	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429993	0.90[EUR][1000 genomes]
rs12431057	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12431130	0.82[EUR][1000 genomes]
rs12874522	1.00[JPT][hapmap]
rs1326137	1.00[JPT][hapmap]
rs1886977	1.00[JPT][hapmap]
rs1968029	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094190	1.00[JPT][hapmap]
rs2094191	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2094196	1.00[JPT][hapmap]
rs2148242	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182374	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182375	0.82[ASN][1000 genomes]
rs2182377	0.82[ASN][1000 genomes]
rs2406694	1.00[JPT][hapmap]
rs2897496	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35710390	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941618	1.00[JPT][hapmap]
rs4941624	1.00[JPT][hapmap]
rs4942720	1.00[JPT][hapmap]
rs4942721	1.00[JPT][hapmap]
rs57957392	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58634823	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61585711	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561414	1.00[JPT][hapmap]
rs7323702	1.00[JPT][hapmap]
rs7323821	1.00[JPT][hapmap]
rs7325175	1.00[JPT][hapmap]
rs7329137	1.00[JPT][hapmap]
rs7329266	1.00[JPT][hapmap]
rs7329615	1.00[JPT][hapmap]
rs7332363	1.00[JPT][hapmap]
rs7332994	1.00[JPT][hapmap]
rs7335797	1.00[JPT][hapmap]
rs7990099	1.00[JPT][hapmap]
rs7991892	1.00[JPT][hapmap]
rs7996051	1.00[JPT][hapmap]
rs7996581	1.00[JPT][hapmap]
rs8001032	1.00[JPT][hapmap]
rs8002322	0.82[ASN][1000 genomes]
rs8002482	1.00[JPT][hapmap]
rs840429	1.00[JPT][hapmap]
rs840430	0.82[ASN][1000 genomes]
rs840432	1.00[JPT][hapmap]
rs840439	1.00[JPT][hapmap]
rs943067	1.00[JPT][hapmap]
rs9526419	1.00[JPT][hapmap]
rs9526455	1.00[JPT][hapmap]
rs9534884	1.00[JPT][hapmap]
rs9534910	0.82[ASN][1000 genomes]
rs9534934	1.00[JPT][hapmap]
rs9534936	0.93[ASN][1000 genomes]
rs9534966	1.00[JPT][hapmap]
rs9567988	1.00[JPT][hapmap]

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	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48705800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:48702200-48713800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:48703600-48705800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr13:48705000-48706200	Enhancers	HMEC	breast
6	chr13:48705200-48705800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr13:48705200-48706000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:48705200-48706200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:48705400-48706600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr13:48705600-48705800	Enhancers	Brain Hippocampus Middle	brain
11	chr13:48705600-48706000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr13:48705600-48706000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:48705600-48706000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr13:48705600-48706000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:48705600-48706000	Flanking Active TSS	NHEK	skin
16	chr13:48705600-48706200	Enhancers	HepG2	liver

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