Variant report

Variant	rs2402747
Chromosome Location	chr7:124364593-124364594
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:124362878..124364678-chr7:124368267..124370002,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10232352	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10255032	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11762579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111991	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1524767	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17147387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17147398	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4141072	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4281050	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4285424	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6960293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970945	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73221479	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73221481	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs983747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv1027091	chr7:124311742-124388908	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124358600-124365200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:124360600-124365000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:124363000-124364600	Enhancers	Brain Anterior Caudate	brain
4	chr7:124363000-124365400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:124363200-124365200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:124363200-124365600	Enhancers	HepG2	liver
7	chr7:124363400-124365000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:124363400-124365200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:124363400-124365400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:124363600-124364600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:124363800-124365200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:124363800-124365400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:124363800-124365400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:124363800-124365400	Enhancers	Liver	Liver
15	chr7:124363800-124368800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:124364000-124364600	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:124364200-124364600	Active TSS	Brain Cingulate Gyrus	brain
18	chr7:124364200-124364600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:124364200-124365000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:124364200-124365600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:124364200-124365800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr7:124364200-124365800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:124364200-124366000	Active TSS	Brain Hippocampus Middle	brain
24	chr7:124364400-124365200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:124364400-124365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:124364400-124365800	Weak transcription	Brain Substantia Nigra	brain
27	chr7:124364400-124366000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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