Variant report

Variant	rs4283082
Chromosome Location	chr12:105880049-105880050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11830712	0.84[AMR][1000 genomes]
rs11835599	0.84[AMR][1000 genomes]
rs11836047	0.84[AMR][1000 genomes]
rs11836118	0.84[AMR][1000 genomes]
rs11836120	0.84[AMR][1000 genomes]
rs17037229	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17037244	0.87[AMR][1000 genomes]
rs17037268	0.87[AMR][1000 genomes]
rs17037272	0.84[AMR][1000 genomes]
rs57640915	0.87[AMR][1000 genomes]
rs58085209	0.84[AMR][1000 genomes]
rs58952628	0.84[AMR][1000 genomes]
rs59164069	0.84[AMR][1000 genomes]
rs59674166	0.84[AMR][1000 genomes]
rs60114853	0.90[AMR][1000 genomes]
rs60122617	0.87[AMR][1000 genomes]
rs61077860	0.84[AMR][1000 genomes]
rs61378511	0.84[AMR][1000 genomes]
rs61568061	0.87[AMR][1000 genomes]
rs72487522	0.90[AMR][1000 genomes]
rs7311732	0.84[AMR][1000 genomes]
rs7313359	0.87[AMR][1000 genomes]
rs7953865	0.90[AMR][1000 genomes]
rs7955110	0.90[AMR][1000 genomes]
rs7961339	0.87[AMR][1000 genomes]
rs7968885	0.90[AMR][1000 genomes]
rs7969008	0.90[AMR][1000 genomes]
rs7976077	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899501	chr12:105819046-105950801	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899502	chr12:105862964-105904525	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3325324	chr12:105878622-105883020	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105863200-105884200	Weak transcription	Right Atrium	heart
2	chr12:105874400-105893600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:105875400-105904400	Weak transcription	Aorta	Aorta
4	chr12:105876400-105880400	Weak transcription	Fetal Kidney	kidney
5	chr12:105876400-105881800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:105878200-105880800	Enhancers	Left Ventricle	heart
7	chr12:105878400-105881600	Enhancers	HUVEC	blood vessel
8	chr12:105878600-105880200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:105878800-105880200	Enhancers	Placenta	Placenta
10	chr12:105878800-105880200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:105878800-105880600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:105878800-105880800	Enhancers	HSMMtube	muscle
13	chr12:105879200-105880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:105879200-105884200	Weak transcription	Psoas Muscle	Psoas
15	chr12:105879400-105888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105879600-105880400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:105879600-105880600	Enhancers	NH-A	brain
18	chr12:105879600-105882000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:105879600-105885800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:105879800-105880600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:105879800-105880600	Enhancers	Right Ventricle	heart
22	chr12:105879800-105886400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:105880000-105881800	Weak transcription	Adipose Nuclei	Adipose

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