Variant report

Variant	rs2283059
Chromosome Location	chr7:126081733-126081734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10228052	0.88[ASN][1000 genomes]
rs10487448	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10954112	0.80[CHB][hapmap];0.86[JPT][hapmap];0.91[ASN][1000 genomes]
rs10954114	0.82[CEU][hapmap]
rs1419458	0.99[ASN][1000 genomes]
rs1419460	1.00[ASN][1000 genomes]
rs17605091	1.00[ASN][1000 genomes]
rs17605952	0.86[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17662715	1.00[ASN][1000 genomes]
rs17662745	1.00[ASN][1000 genomes]
rs17663074	0.86[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800656	1.00[ASN][1000 genomes]
rs2237727	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237731	0.82[CEU][hapmap];0.86[GIH][hapmap];0.88[TSI][hapmap]
rs2283062	0.82[CEU][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap]
rs4728043	0.99[ASN][1000 genomes]
rs6976644	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs712723	0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];1.00[ASN][1000 genomes]
rs7797299	0.81[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429810	chr7:125488049-126131049	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv529300	chr7:125669493-126587858	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1023465	chr7:125873329-126191422	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1028204	chr7:125897362-126225444	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv539118	chr7:125897362-126225444	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1033349	chr7:126010250-126168918	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1032938	chr7:126067684-126587859	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539119	chr7:126067684-126587859	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126076800-126081800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:126077000-126082000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:126078000-126081800	Weak transcription	Fetal Heart	heart
4	chr7:126081000-126082000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:126081400-126082400	Enhancers	Rectal Mucosa Donor 31	rectum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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