Variant report

Variant	rs2708000
Chromosome Location	chr12:83329383-83329384
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83325445..83327291-chr12:83327894..83329399,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10746262	0.92[EUR][1000 genomes]
rs10778918	0.90[EUR][1000 genomes]
rs10778921	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1434425	0.85[CEU][hapmap];0.94[AMR][1000 genomes]
rs1655611	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1655612	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1682567	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1682575	0.85[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1682579	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1682580	0.88[EUR][1000 genomes]
rs1682606	0.92[EUR][1000 genomes]
rs1682608	0.92[EUR][1000 genomes]
rs1796150	0.88[EUR][1000 genomes]
rs1796157	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1796161	0.92[EUR][1000 genomes]
rs1796162	0.92[EUR][1000 genomes]
rs1796166	0.88[EUR][1000 genomes]
rs1796167	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1796168	0.92[EUR][1000 genomes]
rs1796178	0.85[CEU][hapmap];1.00[EUR][1000 genomes]
rs1796187	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1796296	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1796300	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1821444	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1972801	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2019434	0.89[AMR][1000 genomes]
rs2046417	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2062357	0.92[EUR][1000 genomes]
rs2403025	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2403026	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2707753	0.92[EUR][1000 genomes]
rs2707754	0.92[EUR][1000 genomes]
rs2707760	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs4882531	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6539697	0.84[EUR][1000 genomes]
rs7297707	0.85[CEU][hapmap];0.98[EUR][1000 genomes]
rs7299175	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7303058	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7953974	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
3	chr12:83307800-83336800	Weak transcription	Fetal Lung	lung
4	chr12:83323400-83329600	Weak transcription	Fetal Brain Male	brain
5	chr12:83323600-83334400	Weak transcription	Fetal Heart	heart
6	chr12:83324800-83336800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83325000-83346400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:83325400-83330800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:83325600-83348000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:83325800-83330000	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:83325800-83331000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:83325800-83336800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:83326000-83340200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:83326200-83331000	Weak transcription	Brain Angular Gyrus	brain
15	chr12:83326600-83330800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:83327200-83334000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:83328000-83330600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:83328000-83334400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:83329000-83336400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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