Variant report

Variant	rs73323059
Chromosome Location	chr12:64570800-64570801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64569180..64571134-chr12:64613693..64615934,2	K562	blood:
2	chr12:64569573..64573901-chr12:64574064..64577068,4	K562	blood:
3	chr12:64564304..64566773-chr12:64570258..64571875,2	MCF-7	breast:
4	chr12:64569573..64571749-chr12:64574064..64576693,2	K562	blood:
5	chr12:64570311..64573993-chr12:64574949..64576948,3	MCF-7	breast:
6	chr12:64457354..64459870-chr12:64569304..64571189,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11831818	1.00[AMR][1000 genomes]
rs11834820	1.00[AMR][1000 genomes]
rs35892030	1.00[AMR][1000 genomes]
rs56015728	1.00[AMR][1000 genomes]
rs56684025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378562	1.00[AMR][1000 genomes]
rs59167764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73311817	1.00[AMR][1000 genomes]
rs73323067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100222	1.00[AMR][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:44 , 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	chr12:64565600-64570800	Weak transcription	HSMMtube	muscle
3	chr12:64565800-64570800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:64565800-64575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:64566000-64574800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:64566200-64570800	Weak transcription	NH-A	brain
7	chr12:64566600-64571000	Weak transcription	HSMM	muscle
8	chr12:64566600-64571600	Weak transcription	A549	lung
9	chr12:64566800-64571000	Weak transcription	HMEC	breast
10	chr12:64566800-64571400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:64566800-64571400	Weak transcription	NHEK	skin
12	chr12:64567000-64571000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:64567000-64571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:64567200-64571600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:64567800-64573800	Weak transcription	Hela-S3	cervix
16	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
17	chr12:64568600-64574400	Weak transcription	Psoas Muscle	Psoas
18	chr12:64568600-64574800	Enhancers	NHDF-Ad	bronchial
19	chr12:64569600-64571000	Weak transcription	Fetal Brain Male	brain
20	chr12:64569600-64574200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:64569600-64574400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:64569600-64574800	Weak transcription	Brain Anterior Caudate	brain
23	chr12:64569600-64575200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:64569800-64570800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:64569800-64571400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:64569800-64574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:64569800-64575200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:64569800-64575200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:64569800-64575200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:64570200-64573000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:64570200-64578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:64570400-64571800	Enhancers	Spleen	Spleen
33	chr12:64570400-64573200	Enhancers	HUVEC	blood vessel
34	chr12:64570600-64571200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:64570600-64572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:64570600-64575000	Enhancers	Osteobl	bone
37	chr12:64570600-64576200	Enhancers	NHLF	lung
38	chr12:64570800-64571200	Enhancers	Lung	lung
39	chr12:64570800-64571400	Enhancers	Right Atrium	heart
40	chr12:64570800-64571800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr12:64570800-64572600	Enhancers	HSMMtube	muscle
42	chr12:64570800-64573400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:64570800-64574800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:64570800-64575800	Enhancers	NH-A	brain

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