Variant report

Variant	rs2541298
Chromosome Location	chr12:22469617-22469618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:22463973..22466358-chr12:22467905..22470083,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2909059	1.00[AMR][1000 genomes]
rs2909066	1.00[AMR][1000 genomes]
rs2909076	1.00[AMR][1000 genomes]
rs2909077	1.00[AMR][1000 genomes]
rs2909078	1.00[AMR][1000 genomes]
rs2909079	1.00[AMR][1000 genomes]
rs2909084	1.00[AMR][1000 genomes]
rs2955497	1.00[AMR][1000 genomes]
rs2970781	1.00[AMR][1000 genomes]
rs2970782	1.00[AMR][1000 genomes]
rs2970783	1.00[AMR][1000 genomes]
rs2970790	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758299	chr12:22339299-22736907	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22458600-22474800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:22459000-22473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:22459000-22474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:22460400-22473200	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:22460600-22471200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:22461800-22470800	Weak transcription	Fetal Stomach	stomach
7	chr12:22465600-22474000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:22465600-22474600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:22465600-22474800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:22466200-22471200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:22466600-22470000	Weak transcription	Fetal Lung	lung
12	chr12:22466800-22471200	Weak transcription	HMEC	breast
13	chr12:22466800-22474600	Weak transcription	Fetal Brain Female	brain
14	chr12:22467400-22471600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:22467400-22475000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:22467800-22474600	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:22468400-22471200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:22468400-22473200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:22468400-22481000	Weak transcription	Fetal Brain Male	brain
20	chr12:22468600-22470400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:22468600-22470800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:22468600-22471200	Weak transcription	NH-A	brain
23	chr12:22468800-22470600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:22468800-22471200	Weak transcription	Osteobl	bone
25	chr12:22468800-22472000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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