Variant report

Variant	rs550329
Chromosome Location	chr1:86229604-86229605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86227581..86230010-chr1:86231577..86233689,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10747324	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10873718	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10873719	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12756841	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1481200	0.86[YRI][hapmap]
rs1764287	0.82[YRI][hapmap]
rs1764294	0.85[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1764296	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1764298	0.81[ASN][1000 genomes]
rs1775987	0.81[YRI][hapmap]
rs2014733	0.85[YRI][hapmap]
rs2014750	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2389973	0.86[YRI][hapmap]
rs2389974	0.91[YRI][hapmap]
rs2389975	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2764470	0.87[AMR][1000 genomes]
rs313724	1.00[CEU][hapmap]
rs313725	1.00[CEU][hapmap]
rs369999	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs381453	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs383558	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399547	0.86[YRI][hapmap]
rs401657	0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420515	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs425357	0.91[YRI][hapmap]
rs429040	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs430956	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432254	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4379699	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs438401	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs444875	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs450953	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6673975	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6682235	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6686719	0.86[YRI][hapmap]
rs7521240	0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7528385	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7529942	1.00[CHB][hapmap];0.84[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7535884	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7544908	0.98[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7547023	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7554621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs821387	0.82[YRI][hapmap]
rs821402	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs9324153	0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[ASN][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	nsv546721	chr1:86226352-86392577	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86222400-86241200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:86222400-86246400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86222400-86248200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:86222800-86254400	Weak transcription	Fetal Lung	lung
5	chr1:86226800-86238600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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