Variant report

Variant	rs12540791
Chromosome Location	chr7:71309140-71309141
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs12530530	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12536303	0.93[EUR][1000 genomes]
rs12537319	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12668764	0.93[EUR][1000 genomes]
rs12669224	0.93[EUR][1000 genomes]
rs12670326	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12671022	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12672393	0.91[EUR][1000 genomes]
rs12699101	0.82[CEU][hapmap]
rs12699103	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12699104	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12699108	0.93[EUR][1000 genomes]
rs12699109	0.91[EUR][1000 genomes]
rs12699110	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12699111	0.93[EUR][1000 genomes]
rs13224623	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13225975	1.00[CEU][hapmap]
rs13227550	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs13229166	0.93[EUR][1000 genomes]
rs13229182	1.00[CEU][hapmap]
rs13230689	0.93[EUR][1000 genomes]
rs13235673	1.00[CEU][hapmap]
rs13239349	0.93[EUR][1000 genomes]
rs13241833	1.00[CEU][hapmap]
rs13243279	1.00[CEU][hapmap]
rs17137575	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs17137582	0.93[EUR][1000 genomes]
rs17137587	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17144018	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17144069	0.93[EUR][1000 genomes]
rs17144079	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17144089	0.93[EUR][1000 genomes]
rs17144092	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17144104	1.00[CEU][hapmap]
rs17144122	1.00[CEU][hapmap]
rs1859554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2903599	0.93[EUR][1000 genomes]
rs34038314	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34058852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34141892	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34163271	0.93[EUR][1000 genomes]
rs35066942	0.91[EUR][1000 genomes]
rs35087986	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35296889	0.93[EUR][1000 genomes]
rs35316447	0.93[EUR][1000 genomes]
rs35341095	0.93[EUR][1000 genomes]
rs35412752	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35490556	0.93[EUR][1000 genomes]
rs35708009	0.93[EUR][1000 genomes]
rs4717617	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4719181	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4719182	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs4719183	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs4719184	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4719185	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4719186	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4719188	1.00[CEU][hapmap]
rs55748356	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56251697	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59305596	0.91[EUR][1000 genomes]
rs66463629	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67719947	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67740126	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs7806602	1.00[CEU][hapmap];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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71308200-71309200	Enhancers	Thymus	Thymus
2	chr7:71308400-71309200	Enhancers	Fetal Thymus	thymus
3	chr7:71308600-71309200	Enhancers	Brain Angular Gyrus	brain
4	chr7:71308600-71309400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:71308800-71309200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr7:71308800-71309200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:71308800-71309200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr7:71308800-71309400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:71308800-71309600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:71309000-71309200	Enhancers	Primary hematopoietic stem cells	blood
11	chr7:71309000-71309400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:71309000-71309400	Flanking Active TSS	Dnd41	blood

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