Variant report

Variant	rs1021665
Chromosome Location	chr12:64569117-64569118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64563969..64566740-chr12:64567525..64570598,3	MCF-7	breast:
2	chr12:64566259..64570333-chr12:64574153..64576842,4	MCF-7	breast:
3	chr12:64534344..64535876-chr12:64567198..64569416,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10748003	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784384	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10784385	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878110	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10878111	0.80[EUR][1000 genomes]
rs10878114	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10878115	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10878116	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10878117	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10878118	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11175269	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11175270	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2643665	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3932167	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763139	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699633	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs789711	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs789712	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs789713	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs789748	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9788007	0.80[AMR][1000 genomes];0.83[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:37 , 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	chr12:64564200-64569200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:64564200-64569200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:64564200-64569400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:64564400-64569400	Weak transcription	Brain Anterior Caudate	brain
6	chr12:64565600-64570800	Weak transcription	HSMMtube	muscle
7	chr12:64565800-64570800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:64566000-64569200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:64566000-64570600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:64566200-64570800	Weak transcription	NH-A	brain
13	chr12:64566600-64570400	Weak transcription	HUVEC	blood vessel
14	chr12:64566600-64570600	Weak transcription	NHLF	lung
15	chr12:64566600-64571000	Weak transcription	HSMM	muscle
16	chr12:64566600-64571600	Weak transcription	A549	lung
17	chr12:64566800-64571000	Weak transcription	HMEC	breast
18	chr12:64566800-64571400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:64566800-64571400	Weak transcription	NHEK	skin
20	chr12:64567000-64571000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr12:64567000-64571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:64567200-64571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:64567600-64570600	Weak transcription	Osteobl	bone
24	chr12:64567800-64569400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:64567800-64570200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:64567800-64573800	Weak transcription	Hela-S3	cervix
27	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
28	chr12:64568400-64569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:64568600-64569800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:64568600-64569800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:64568600-64574400	Weak transcription	Psoas Muscle	Psoas
32	chr12:64568600-64574800	Enhancers	NHDF-Ad	bronchial
33	chr12:64568800-64569600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:64568800-64569600	Enhancers	Fetal Brain Female	brain
35	chr12:64568800-64569800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr12:64569000-64569600	Enhancers	Fetal Brain Male	brain
37	chr12:64569000-64569800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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