Variant report

Variant	rs10783417
Chromosome Location	chr12:51579453-51579454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51474666..51478844-chr12:51578009..51583588,6	MCF-7	breast:
2	chr12:51579329..51581068-chr12:51630464..51632697,2	K562	blood:
3	chr12:51565656..51568783-chr12:51579080..51582144,3	K562	blood:
4	chr12:51577327..51580829-chr12:51630464..51634140,3	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10783414	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10783418	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876143	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10876146	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1565721	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1985457	0.81[EUR][1000 genomes]
rs2029686	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2436645	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436646	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436647	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2640511	0.83[AMR][1000 genomes]
rs2640523	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2730647	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2730650	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2730654	0.88[AMR][1000 genomes]
rs2956428	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580799	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6580800	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6580801	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6580803	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6580804	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7306522	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959378	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51583400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:51567400-51584000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
4	chr12:51574800-51583400	Weak transcription	Aorta	Aorta
5	chr12:51575600-51583600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:51575800-51583600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:51576800-51580800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:51577600-51582400	Weak transcription	Brain Substantia Nigra	brain
9	chr12:51577600-51583000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr12:51577800-51579600	Weak transcription	Fetal Thymus	thymus
11	chr12:51577800-51580200	Enhancers	HepG2	liver
12	chr12:51577800-51580600	Weak transcription	Fetal Stomach	stomach
13	chr12:51577800-51582000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr12:51578000-51580000	Weak transcription	GM12878-XiMat	blood
16	chr12:51578000-51580600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:51578000-51582200	Weak transcription	Brain Hippocampus Middle	brain
18	chr12:51578000-51583000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
20	chr12:51578000-51583400	Weak transcription	Ovary	ovary
21	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
22	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:51578200-51580200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:51578200-51580200	Enhancers	HSMMtube	muscle
25	chr12:51578200-51580200	Weak transcription	K562	blood
26	chr12:51578200-51580800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:51578200-51581000	Weak transcription	Fetal Kidney	kidney
28	chr12:51578200-51582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:51578200-51582200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
31	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
32	chr12:51578400-51580000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:51578400-51580400	Weak transcription	Psoas Muscle	Psoas
34	chr12:51578400-51580800	Weak transcription	HSMM	muscle
35	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:51578600-51580200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:51578800-51580200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr12:51579000-51583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:51579400-51579800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:51579400-51581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:51579400-51581600	Weak transcription	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links