Variant report

Variant	rs1474283
Chromosome Location	chr7:47947863-47947864
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	chr7:47942564..47945439-chr7:47946941..47948998,2	MCF-7	breast:
2	chr7:47944202..47946241-chr7:47946368..47948472,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10281977	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12669119	0.86[ASN][1000 genomes]
rs17131948	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1829730	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2177165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56075223	0.86[ASN][1000 genomes]
rs62447088	0.84[ASN][1000 genomes]
rs62447089	0.86[ASN][1000 genomes]
rs6463454	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73695940	0.86[ASN][1000 genomes]
rs7791041	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7802908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs885338	0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47916400-47949000	Weak transcription	Right Ventricle	heart
2	chr7:47928400-47957600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:47934000-48001800	Weak transcription	Psoas Muscle	Psoas
4	chr7:47941400-47952400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:47942400-47954000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:47943400-47949000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:47943600-47954000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:47944000-47949800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:47945000-47948400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:47945200-47948800	Weak transcription	Lung	lung
11	chr7:47945200-47954400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:47945400-47948000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:47945400-47948200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:47945400-47954200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:47945600-47948200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:47945600-47948200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:47945600-47950600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:47947000-47949600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:47947400-47948600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:47947800-47948400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:47947800-47948400	Flanking Active TSS	Fetal Heart	heart
22	chr7:47947800-47948600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:47947800-47949000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:47947800-47949200	Enhancers	Left Ventricle	heart

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