Variant report

Variant	rs2463683
Chromosome Location	chr7:85139756-85139757
allele	C/T
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:20)

rs_ID	r²[population]
rs10227200	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248169	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281723	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10435248	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358539	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1403789	0.83[EUR][1000 genomes]
rs1464661	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523624	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1528497	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887926	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16887933	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160046	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091086	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs2140460	0.86[EUR][1000 genomes]
rs2498539	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28626881	0.93[EUR][1000 genomes]
rs6960755	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73391596	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778332	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807771	0.93[EUR][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	nsv916645	chr7:84678606-85420011	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv869255	chr7:84678606-85444155	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3327487	chr7:84901505-85320690	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888649	chr7:85099898-85356773	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2761345	chr7:85104681-85187726	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1034789	chr7:85137730-85175007	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888650	chr7:85138665-85267174	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85138000-85139800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:85139000-85139800	Weak transcription	NHDF-Ad	bronchial
3	chr7:85139000-85146200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:85139200-85144000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:85139200-85144000	Weak transcription	NHLF	lung
6	chr7:85139200-85144400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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