Variant report

Variant	rs12699104
Chromosome Location	chr7:71318820-71318821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71318085..71319740-chr7:71534697..71536684,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs12530530	0.93[EUR][1000 genomes]
rs12536303	0.93[EUR][1000 genomes]
rs12537319	0.93[EUR][1000 genomes]
rs12540791	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12668764	0.93[EUR][1000 genomes]
rs12669224	0.93[EUR][1000 genomes]
rs12670326	0.93[EUR][1000 genomes]
rs12671022	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12672393	0.91[EUR][1000 genomes]
rs12699103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12699108	0.93[EUR][1000 genomes]
rs12699109	0.91[EUR][1000 genomes]
rs12699110	0.91[EUR][1000 genomes]
rs12699111	0.93[EUR][1000 genomes]
rs13224623	0.93[EUR][1000 genomes]
rs13227550	0.93[EUR][1000 genomes]
rs13229166	0.93[EUR][1000 genomes]
rs13230689	0.93[EUR][1000 genomes]
rs13239349	0.93[EUR][1000 genomes]
rs17137575	0.93[EUR][1000 genomes]
rs17137582	0.93[EUR][1000 genomes]
rs17137587	0.93[EUR][1000 genomes]
rs17144018	0.94[EUR][1000 genomes]
rs17144069	0.93[EUR][1000 genomes]
rs17144079	0.91[EUR][1000 genomes]
rs17144089	0.93[EUR][1000 genomes]
rs17144092	0.93[EUR][1000 genomes]
rs1859554	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2903599	0.93[EUR][1000 genomes]
rs34038314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34058852	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34141892	0.91[EUR][1000 genomes]
rs34163271	0.93[EUR][1000 genomes]
rs35066942	0.91[EUR][1000 genomes]
rs35087986	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35296889	0.93[EUR][1000 genomes]
rs35316447	0.93[EUR][1000 genomes]
rs35341095	0.93[EUR][1000 genomes]
rs35412752	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35490556	0.93[EUR][1000 genomes]
rs35708009	0.93[EUR][1000 genomes]
rs4717617	0.93[EUR][1000 genomes]
rs4719181	0.93[EUR][1000 genomes]
rs4719182	0.93[EUR][1000 genomes]
rs4719183	0.93[EUR][1000 genomes]
rs4719184	0.93[EUR][1000 genomes]
rs4719185	0.93[EUR][1000 genomes]
rs4719186	0.93[EUR][1000 genomes]
rs55748356	0.91[EUR][1000 genomes]
rs56251697	0.88[EUR][1000 genomes]
rs59305596	0.91[EUR][1000 genomes]
rs66463629	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67719947	0.91[EUR][1000 genomes]
rs67740126	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71551228	0.93[EUR][1000 genomes]
rs71551229	0.93[EUR][1000 genomes]
rs71551230	0.88[EUR][1000 genomes]
rs71551231	0.93[EUR][1000 genomes]
rs71551232	0.93[EUR][1000 genomes]
rs721235	0.89[EUR][1000 genomes]
rs7806602	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1027496	chr7:71162362-71575116	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv916220	chr7:71200006-71708048	Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71309200-71326600	Weak transcription	Fetal Thymus	thymus
2	chr7:71309200-71333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71309200-71335800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:71310600-71324400	Weak transcription	Thymus	Thymus
5	chr7:71313400-71330000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:71313600-71322200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:71317200-71319400	Weak transcription	Fetal Brain Female	brain
8	chr7:71318800-71320800	Enhancers	Dnd41	blood
9	chr7:71318800-71321000	Enhancers	Fetal Brain Male	brain

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