Variant report

Variant	rs7554621
Chromosome Location	chr1:86207864-86207865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10747324	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873719	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094360	0.84[EUR][1000 genomes]
rs12756841	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758966	0.88[EUR][1000 genomes]
rs1481200	0.92[EUR][1000 genomes]
rs1764287	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs1764294	0.81[ASN][1000 genomes]
rs1764295	0.92[EUR][1000 genomes]
rs1764296	0.81[ASN][1000 genomes]
rs1764298	0.81[ASN][1000 genomes]
rs1775985	0.92[EUR][1000 genomes]
rs1775986	0.92[EUR][1000 genomes]
rs1775987	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1775991	0.84[EUR][1000 genomes]
rs1775992	0.92[EUR][1000 genomes]
rs1813656	0.82[AFR][1000 genomes]
rs2014733	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2014750	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389973	0.92[EUR][1000 genomes]
rs2389974	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2389975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764470	0.87[AMR][1000 genomes]
rs2970548	0.88[EUR][1000 genomes]
rs369999	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs381453	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383558	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399547	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs401657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420515	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425357	0.92[AFR][1000 genomes]
rs429040	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs430956	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432254	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379699	0.99[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs438401	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444875	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs450953	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs550329	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576789	0.85[AFR][1000 genomes]
rs6673975	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686719	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7521240	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7528385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7529942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535884	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544908	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7547023	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821383	0.92[EUR][1000 genomes]
rs821387	0.92[EUR][1000 genomes]
rs821388	0.92[EUR][1000 genomes]
rs821397	0.84[EUR][1000 genomes]
rs821400	0.92[EUR][1000 genomes]
rs821402	0.81[ASN][1000 genomes]
rs849158	0.92[EUR][1000 genomes]
rs9324153	0.81[ASN][1000 genomes]
rs9651138	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9661608	0.84[EUR][1000 genomes]
rs9661951	0.92[EUR][1000 genomes]
rs9701898	0.92[EUR][1000 genomes]
rs9793556	0.92[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv817212	chr1:86127851-86658426	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv871471	chr1:86143084-86211516	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86191600-86210400	Weak transcription	Fetal Lung	lung
2	chr1:86196600-86208200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86199000-86211600	Weak transcription	GM12878-XiMat	blood
4	chr1:86202400-86209400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:86206200-86208800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:86206800-86208000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:86207800-86221800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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