Variant report

Variant	rs62449531
Chromosome Location	chr7:51039372-51039373
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	chr7:51038266..51041204-chr7:51041610..51043716,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11238371	0.88[EUR][1000 genomes]
rs11768798	0.94[EUR][1000 genomes]
rs11768836	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11769251	0.94[EUR][1000 genomes]
rs11971137	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11975831	1.00[EUR][1000 genomes]
rs11976892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11976942	0.94[EUR][1000 genomes]
rs11979920	0.88[EUR][1000 genomes]
rs11980879	0.94[EUR][1000 genomes]
rs11981285	0.88[EUR][1000 genomes]
rs12537817	0.88[EUR][1000 genomes]
rs34867714	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55958753	0.88[EUR][1000 genomes]
rs56025941	0.88[EUR][1000 genomes]
rs57377275	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57780834	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59368174	0.94[EUR][1000 genomes]
rs61445038	0.88[EUR][1000 genomes]
rs62449460	0.94[EUR][1000 genomes]
rs62449466	0.88[EUR][1000 genomes]
rs62449535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62449536	0.94[EUR][1000 genomes]
rs62449537	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62449538	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6969400	0.82[EUR][1000 genomes]
rs6977927	0.88[EUR][1000 genomes]
rs6979571	0.94[EUR][1000 genomes]
rs73342688	0.88[EUR][1000 genomes]
rs73344412	0.88[EUR][1000 genomes]
rs7800996	0.94[EUR][1000 genomes]
rs7806327	0.83[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	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv888022	chr7:50933678-51046674	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2761146	chr7:50975457-51957019	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1027122	chr7:50984824-51376078	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv538836	chr7:50984824-51376078	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv830999	chr7:51020735-51164809	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:51035400-51041600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:51037400-51041000	Enhancers	Pancreas	Pancrea
3	chr7:51038000-51049600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:51039200-51041400	Weak transcription	Thymus	Thymus

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