Variant report

Variant	rs789713
Chromosome Location	chr12:64574273-64574274
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64573391..64577314-chr12:64614642..64617588,5	MCF-7	breast:
2	chr12:64236487..64240653-chr12:64573099..64577184,5	MCF-7	breast:
3	chr12:64566259..64570333-chr12:64574153..64576842,4	MCF-7	breast:
4	chr12:64569573..64573901-chr12:64574064..64577068,4	K562	blood:
5	chr12:64569573..64571749-chr12:64574064..64576693,2	K562	blood:
6	chr12:64574061..64575880-chr12:64614771..64616279,2	MCF-7	breast:
7	chr12:64573179..64575576-chr7:155001263..155003585,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174206	Chromatin interaction
ENSG00000243024	Chromatin interaction
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1021665	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10748003	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10784384	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784385	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878110	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878116	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10878117	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10878118	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175269	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11175270	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1695105	0.83[AMR][1000 genomes]
rs17100214	1.00[CHB][hapmap]
rs2643665	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3932167	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4763139	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs699633	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs722526	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs789711	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs789712	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs789721	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs789748	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs789749	0.80[AMR][1000 genomes]
rs789750	0.80[AMR][1000 genomes]
rs9788007	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64563600-64574600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
5	chr12:64568600-64574400	Weak transcription	Psoas Muscle	Psoas
6	chr12:64568600-64574800	Enhancers	NHDF-Ad	bronchial
7	chr12:64569600-64574400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:64569600-64574800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:64569600-64575200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:64569800-64574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:64569800-64575200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:64569800-64575200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:64569800-64575200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:64570200-64578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:64570600-64575000	Enhancers	Osteobl	bone
16	chr12:64570600-64576200	Enhancers	NHLF	lung
17	chr12:64570800-64574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:64570800-64575800	Enhancers	NH-A	brain
19	chr12:64571200-64574400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:64571400-64575800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:64571800-64575200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:64571800-64575600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:64572600-64574400	Weak transcription	HSMMtube	muscle
24	chr12:64572800-64575200	Weak transcription	Fetal Heart	heart
25	chr12:64572800-64575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:64573000-64575200	Weak transcription	Ovary	ovary
27	chr12:64573200-64574400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:64573400-64574800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:64573600-64574400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:64573600-64574600	Enhancers	HUVEC	blood vessel
31	chr12:64573800-64574600	Enhancers	Spleen	Spleen
32	chr12:64573800-64575000	Enhancers	Hela-S3	cervix
33	chr12:64573800-64575400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:64573800-64576600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:64573800-64576600	Enhancers	HMEC	breast
36	chr12:64573800-64576600	Enhancers	HSMM	muscle
37	chr12:64573800-64576800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:64574000-64574400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:64574000-64574400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:64574000-64574400	Enhancers	A549	lung
41	chr12:64574000-64576600	Enhancers	NHEK	skin
42	chr12:64574200-64576200	Enhancers	Adipose Nuclei	Adipose
43	chr12:64574200-64576200	Enhancers	Fetal Lung	lung

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