Variant report

Variant	rs4480639
Chromosome Location	chr12:117245146-117245147
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	chr12:117243731..117245793-chr12:117253292..117254945,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10735098	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774890	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850720	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1495933	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4238048	0.82[AMR][1000 genomes]
rs4326894	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767457	0.89[EUR][1000 genomes]
rs7299363	0.82[ASN][1000 genomes]
rs7304747	0.81[EUR][1000 genomes]
rs7315763	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs924072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924075	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs924078	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117198000-117256200	Weak transcription	Hela-S3	cervix
2	chr12:117222000-117248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:117223600-117246200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:117225200-117256200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:117227000-117249200	Weak transcription	Primary T cells from cord blood	blood
6	chr12:117228400-117256400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117229200-117256200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:117234600-117246800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:117237000-117256200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:117237200-117246600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:117237200-117256200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:117237200-117256200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:117237400-117246600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:117237800-117246400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117237800-117256000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:117237800-117256200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:117238000-117256200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:117238000-117256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:117238400-117255600	Enhancers	Fetal Thymus	thymus
20	chr12:117239800-117247200	Weak transcription	Aorta	Aorta
21	chr12:117240800-117245400	Enhancers	Thymus	Thymus
22	chr12:117242000-117256200	Weak transcription	GM12878-XiMat	blood
23	chr12:117242200-117256000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:117244600-117245200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:117244600-117245800	Enhancers	Primary B cells from cord blood	blood
26	chr12:117244800-117245200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:117244800-117245200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:117244800-117245600	Enhancers	Lung	lung
29	chr12:117244800-117247200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:117244800-117248400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:117245000-117245600	Enhancers	Primary B cells from peripheral blood	blood

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