Variant report

Variant	rs73106314
Chromosome Location	chr12:40609509-40609510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11564105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564112	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564134	1.00[AMR][1000 genomes]
rs11564154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564174	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564195	1.00[AMR][1000 genomes]
rs11564208	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17519531	1.00[AMR][1000 genomes]
rs17519580	1.00[AMR][1000 genomes]
rs3906865	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092794	1.00[AMR][1000 genomes]
rs73092800	1.00[AMR][1000 genomes]
rs73093531	1.00[AMR][1000 genomes]
rs73094944	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73094986	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097447	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097463	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097494	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73101828	1.00[AMR][1000 genomes]
rs73102253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102757	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102773	1.00[AMR][1000 genomes]
rs73105433	1.00[AMR][1000 genomes]
rs73105445	1.00[AMR][1000 genomes]
rs73105478	1.00[AMR][1000 genomes]
rs73105482	1.00[AMR][1000 genomes]
rs73106320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106342	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106345	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106346	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106349	1.00[AMR][1000 genomes]
rs73106357	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107134	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107664	1.00[AMR][1000 genomes]
rs73107677	1.00[AMR][1000 genomes]
rs73108321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108336	0.86[AFR][1000 genomes]
rs73108345	1.00[AMR][1000 genomes]
rs73108347	1.00[AMR][1000 genomes]
rs73108352	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108357	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108365	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108371	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108376	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315719	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7315853	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7316047	1.00[AMR][1000 genomes]
rs7966059	1.00[AMR][1000 genomes]
rs7974320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1052661	chr12:40603049-40642812	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40604200-40611000	Weak transcription	Fetal Kidney	kidney
2	chr12:40605200-40610400	Weak transcription	A549	lung
3	chr12:40608800-40611400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:40609200-40610000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:40609200-40611200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:40609400-40610000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:40609400-40610800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:40609400-40611000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:40609400-40611000	Enhancers	Hela-S3	cervix
10	chr12:40609400-40611000	Enhancers	HMEC	breast

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