Variant report

Variant	rs73088804
Chromosome Location	chr12:39799356-39799357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39792518..39795193-chr12:39798527..39801393,2	K562	blood:
2	chr12:39797310..39800698-chr12:39836050..39838671,5	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1567738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086886	1.00[AFR][1000 genomes]
rs73086887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73086896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088808	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73088811	1.00[AMR][1000 genomes]
rs73088812	1.00[AMR][1000 genomes]
rs73094416	1.00[AMR][1000 genomes]
rs73094426	1.00[AMR][1000 genomes]
rs73094430	1.00[AMR][1000 genomes]
rs73094441	1.00[AMR][1000 genomes]
rs73094443	1.00[AMR][1000 genomes]
rs73094451	1.00[AMR][1000 genomes]
rs73094465	1.00[AMR][1000 genomes]
rs73094466	1.00[AMR][1000 genomes]
rs73094469	1.00[AMR][1000 genomes]
rs73094480	1.00[AMR][1000 genomes]
rs73094482	1.00[AMR][1000 genomes]
rs73094497	1.00[AMR][1000 genomes]
rs73094498	1.00[AMR][1000 genomes]
rs73094499	1.00[AMR][1000 genomes]
rs73094502	1.00[AMR][1000 genomes]
rs73096503	1.00[AMR][1000 genomes]
rs73096504	1.00[AMR][1000 genomes]
rs73096507	1.00[AMR][1000 genomes]
rs73096509	1.00[AMR][1000 genomes]
rs73096513	1.00[AMR][1000 genomes]
rs73096521	1.00[AMR][1000 genomes]
rs73096524	1.00[AMR][1000 genomes]
rs73096528	1.00[AMR][1000 genomes]
rs73096539	1.00[AMR][1000 genomes]
rs73096542	1.00[AMR][1000 genomes]
rs73096551	1.00[AMR][1000 genomes]
rs73096571	1.00[AMR][1000 genomes]
rs73096578	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	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
2	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39761800-39806000	Weak transcription	Hela-S3	cervix
2	chr12:39781400-39800200	Weak transcription	Brain Angular Gyrus	brain
3	chr12:39785000-39829200	Weak transcription	K562	blood
4	chr12:39789000-39799400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:39789200-39800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
7	chr12:39791800-39799600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:39793600-39799800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
10	chr12:39795400-39803000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:39795600-39799600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:39795600-39799800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:39795600-39800200	Weak transcription	Ovary	ovary
15	chr12:39796200-39805600	Weak transcription	Liver	Liver
16	chr12:39797000-39800200	Weak transcription	Brain Substantia Nigra	brain
17	chr12:39797200-39800000	Weak transcription	A549	lung
18	chr12:39797200-39800200	Weak transcription	Brain Anterior Caudate	brain
19	chr12:39797400-39799600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:39797400-39800000	Enhancers	GM12878-XiMat	blood
21	chr12:39797600-39805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:39797600-39812000	Weak transcription	HMEC	breast
23	chr12:39798000-39799800	Weak transcription	Brain Germinal Matrix	brain
24	chr12:39798000-39802400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:39798200-39800200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:39798200-39802000	Weak transcription	Left Ventricle	heart
27	chr12:39798200-39807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:39798200-39809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:39798400-39799600	Weak transcription	Fetal Heart	heart
30	chr12:39799200-39799600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:39799200-39799800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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