Variant report

Variant	rs74088335
Chromosome Location	chr12:39686286-39686287
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39685600..39687183-chr12:39700503..39702703,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1913189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55756650	1.00[AMR][1000 genomes]
rs56114183	1.00[AMR][1000 genomes]
rs56224231	1.00[AMR][1000 genomes]
rs57847806	1.00[AMR][1000 genomes]
rs58046207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58297221	1.00[AMR][1000 genomes]
rs74086512	1.00[AMR][1000 genomes]
rs74086516	1.00[AMR][1000 genomes]
rs74086528	1.00[AMR][1000 genomes]
rs74086539	1.00[AMR][1000 genomes]
rs74086540	1.00[AMR][1000 genomes]
rs74086548	1.00[AMR][1000 genomes]
rs74086549	1.00[AMR][1000 genomes]
rs74086569	1.00[AMR][1000 genomes]
rs74088332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74088350	1.00[AMR][1000 genomes]
rs74088351	1.00[AMR][1000 genomes]
rs74088356	1.00[AMR][1000 genomes]
rs74088360	1.00[AMR][1000 genomes]
rs74088362	1.00[AMR][1000 genomes]
rs74088365	1.00[AMR][1000 genomes]
rs74088368	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39674800-39690200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:39681600-39687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
4	chr12:39682400-39688800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:39683200-39696000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:39684400-39695400	Weak transcription	A549	lung
7	chr12:39684600-39688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:39684600-39688200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:39685200-39697400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:39685200-39714400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:39685600-39688800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:39686000-39688200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:39686200-39686600	Enhancers	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links