Variant report

Variant	rs58148320
Chromosome Location	chr7:69616147-69616148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10255669	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10487941	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17362481	0.85[ASN][1000 genomes]
rs17362817	0.85[ASN][1000 genomes]
rs17364237	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs17459722	0.81[ASN][1000 genomes]
rs1949804	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57077672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59462226	0.98[ASN][1000 genomes]
rs60142113	0.97[ASN][1000 genomes]
rs6975213	0.87[ASN][1000 genomes]
rs7781686	0.85[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	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69599200-69616200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:69600000-69618200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69600000-69631000	Weak transcription	Primary B cells from cord blood	blood
4	chr7:69603400-69625600	Weak transcription	Fetal Brain Male	brain
5	chr7:69610200-69626400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:69615400-69616200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:69615400-69616400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:69615600-69616200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:69615600-69616400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:69615600-69616400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:69615600-69616400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr7:69615800-69616200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr7:69615800-69616400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:69615800-69616400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr7:69615800-69621000	Weak transcription	Fetal Lung	lung
16	chr7:69616000-69616200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr7:69616000-69616400	Enhancers	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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