Variant report

Variant	rs10254386
Chromosome Location	chr7:79738516-79738517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10155854	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018932	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1018933	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10248649	0.89[EUR][1000 genomes]
rs10273160	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10954047	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531497	0.89[EUR][1000 genomes]
rs1962777	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189340	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366235	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696126	0.86[EUR][1000 genomes]
rs2886607	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728008	0.85[EUR][1000 genomes]
rs6466947	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945349	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952190	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952956	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959063	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973993	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6974765	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979946	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810958	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79733200-79741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:79735200-79738800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr7:79735200-79741400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:79736400-79738800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr7:79736600-79742800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:79737000-79742800	Weak transcription	Brain Substantia Nigra	brain
7	chr7:79737200-79741000	Enhancers	Primary hematopoietic stem cells	blood
8	chr7:79737600-79741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:79737600-79742800	Weak transcription	Brain Angular Gyrus	brain
10	chr7:79737600-79742800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:79738200-79738600	Enhancers	Fetal Heart	heart
12	chr7:79738400-79738600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:79738400-79738600	Enhancers	Colon Smooth Muscle	Colon
14	chr7:79738400-79738800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:79738400-79738800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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