Variant report

Variant	rs10783418
Chromosome Location	chr12:51580219-51580220
allele	C/T
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	chr12:51440541..51442704-chr12:51579931..51581494,2	MCF-7	breast:
4	chr12:51565656..51568783-chr12:51579080..51582144,3	K562	blood:
5	chr12:51577327..51580829-chr12:51630464..51634140,3	K562	blood:

Variant related genes	Relation type
ENSG00000183283	Chromatin interaction
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction
ENSG00000050426	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10783414	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10783416	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783417	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876143	0.86[EUR][1000 genomes]
rs10876146	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1565721	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1985457	0.80[EUR][1000 genomes]
rs2029686	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.88[MKK][hapmap];0.90[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436645	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436646	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2436647	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2640511	0.82[AMR][1000 genomes]
rs2640523	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2730647	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2730650	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2730654	0.87[AMR][1000 genomes]
rs2956428	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6580799	1.00[ASW][hapmap];0.96[CEU][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6580800	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6580801	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6580803	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6580804	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7306522	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7959378	0.96[AFR][1000 genomes];0.92[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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10783418	CSRNP2	cis	cerebellum	SCAN
rs10783418	DDN	cis	cerebellum	SCAN
rs10783418	TFCP2	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

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	chr12:51577800-51580600	Weak transcription	Fetal Stomach	stomach
11	chr12:51577800-51582000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:51577800-51583400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr12:51578000-51580600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:51578000-51582200	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:51578000-51583000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:51578000-51583400	Weak transcription	Left Ventricle	heart
17	chr12:51578000-51583400	Weak transcription	Ovary	ovary
18	chr12:51578000-51583600	Weak transcription	Pancreas	Pancrea
19	chr12:51578000-51587600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:51578200-51580800	Weak transcription	Brain Angular Gyrus	brain
21	chr12:51578200-51581000	Weak transcription	Fetal Kidney	kidney
22	chr12:51578200-51582200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:51578200-51582200	Weak transcription	Brain Germinal Matrix	brain
24	chr12:51578200-51586000	Weak transcription	Fetal Heart	heart
25	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
26	chr12:51578400-51580400	Weak transcription	Psoas Muscle	Psoas
27	chr12:51578400-51580800	Weak transcription	HSMM	muscle
28	chr12:51578400-51583800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr12:51579000-51583000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:51579400-51581000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:51579400-51581600	Weak transcription	Fetal Brain Female	brain
32	chr12:51579600-51583600	Enhancers	Fetal Thymus	thymus
33	chr12:51580000-51580800	Enhancers	Primary T cells from cord blood	blood
34	chr12:51580000-51580800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:51580000-51581200	Enhancers	GM12878-XiMat	blood
36	chr12:51580000-51581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:51580000-51581600	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:51580000-51581600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr12:51580200-51580400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:51580200-51580400	Flanking Active TSS	HepG2	liver
41	chr12:51580200-51580400	Flanking Active TSS	HSMMtube	muscle
42	chr12:51580200-51580600	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr12:51580200-51580600	Enhancers	Placenta	Placenta
44	chr12:51580200-51580800	Enhancers	K562	blood
45	chr12:51580200-51581000	Enhancers	Adipose Nuclei	Adipose
46	chr12:51580200-51581400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:51580200-51581400	Enhancers	Spleen	Spleen
48	chr12:51580200-51581600	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr12:51580200-51581800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr12:51580200-51582200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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