Variant report

Variant	rs7970819
Chromosome Location	chr12:39799923-39799924
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:39792518..39795193-chr12:39798527..39801393,2	K562	blood:
2	chr12:39799457..39802388-chr12:39827395..39829929,2	K562	blood:
3	chr12:39797310..39800698-chr12:39836050..39838671,5	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1512941	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1512943	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17126997	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17127029	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127070	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127094	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127100	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127129	0.83[ASN][1000 genomes]
rs17127138	0.83[ASN][1000 genomes]
rs2137495	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2271478	0.83[ASN][1000 genomes]
rs2292491	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4620763	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56858582	0.82[AFR][1000 genomes]
rs57196300	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58891998	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59967849	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61039034	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135918	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307730	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7308138	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73086885	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088816	0.83[ASN][1000 genomes]
rs7956823	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966841	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970944	0.83[ASN][1000 genomes]
rs7976275	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978854	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980595	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs963637	0.81[ASN][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:33 , 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	chr12:39789200-39800000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:39790000-39816200	Weak transcription	Right Ventricle	heart
6	chr12:39794200-39824800	Weak transcription	Right Atrium	heart
7	chr12:39795400-39803000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:39795400-39816600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:39795600-39800200	Weak transcription	Ovary	ovary
10	chr12:39796200-39805600	Weak transcription	Liver	Liver
11	chr12:39797000-39800200	Weak transcription	Brain Substantia Nigra	brain
12	chr12:39797200-39800000	Weak transcription	A549	lung
13	chr12:39797200-39800200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:39797400-39800000	Enhancers	GM12878-XiMat	blood
15	chr12:39797600-39805400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:39797600-39812000	Weak transcription	HMEC	breast
17	chr12:39798000-39802400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:39798200-39800200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:39798200-39802000	Weak transcription	Left Ventricle	heart
20	chr12:39798200-39807000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:39798200-39809600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:39799400-39801400	Enhancers	Brain Hippocampus Middle	brain
23	chr12:39799400-39802200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:39799600-39800000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:39799600-39800600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:39799600-39801200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:39799600-39801600	Enhancers	Brain Cingulate Gyrus	brain
28	chr12:39799600-39801600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:39799600-39802600	Enhancers	Fetal Heart	heart
30	chr12:39799800-39800000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:39799800-39800200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:39799800-39801400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:39799800-39801600	Enhancers	Brain Germinal Matrix	brain

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