Variant report

Variant	rs1080690
Chromosome Location	chr4:80170748-80170749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:80162418..80164734-chr4:80169603..80171885,2	K562	blood:
2	chr4:80169525..80172231-chr4:80176265..80177995,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10013555	0.82[ASN][1000 genomes]
rs10032360	0.84[ASN][1000 genomes]
rs10032363	0.84[ASN][1000 genomes]
rs1026394	0.84[ASN][1000 genomes]
rs11098588	0.88[ASN][1000 genomes]
rs11098595	0.89[ASN][1000 genomes]
rs11098603	0.84[ASN][1000 genomes]
rs11098609	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11732616	0.84[ASN][1000 genomes]
rs11735553	0.89[ASN][1000 genomes]
rs12502459	0.85[ASN][1000 genomes]
rs12504676	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12643994	0.88[ASN][1000 genomes]
rs12644018	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12648205	0.89[ASN][1000 genomes]
rs13143413	0.82[ASN][1000 genomes]
rs13145326	0.89[ASN][1000 genomes]
rs1385055	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1455313	0.85[ASN][1000 genomes]
rs17003689	0.87[ASN][1000 genomes]
rs17003690	0.87[ASN][1000 genomes]
rs1840480	0.81[ASN][1000 genomes]
rs1955232	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28528138	0.88[AMR][1000 genomes]
rs4246718	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4302482	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4385093	0.84[ASN][1000 genomes]
rs4386626	0.89[ASN][1000 genomes]
rs4425403	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4470657	0.89[ASN][1000 genomes]
rs4502706	0.89[ASN][1000 genomes]
rs4519821	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4535355	0.89[ASN][1000 genomes]
rs4535356	0.87[ASN][1000 genomes]
rs4571359	0.89[ASN][1000 genomes]
rs4571360	0.89[ASN][1000 genomes]
rs4975079	0.89[ASN][1000 genomes]
rs4975080	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4975166	0.82[ASN][1000 genomes]
rs4975171	0.89[ASN][1000 genomes]
rs4975172	0.89[ASN][1000 genomes]
rs4975173	0.84[ASN][1000 genomes]
rs4988619	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56008448	1.00[ASN][1000 genomes]
rs56205707	0.95[ASN][1000 genomes]
rs58479998	0.82[ASN][1000 genomes]
rs6534217	0.89[ASN][1000 genomes]
rs6534218	0.89[ASN][1000 genomes]
rs6534253	0.84[ASN][1000 genomes]
rs6810580	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6826553	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6826564	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6827253	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6832917	0.84[ASN][1000 genomes]
rs6837864	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6853034	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6855921	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72870807	0.95[ASN][1000 genomes]
rs72870815	0.95[ASN][1000 genomes]
rs72870819	0.95[ASN][1000 genomes]
rs7656444	0.89[ASN][1000 genomes]
rs7659766	0.89[ASN][1000 genomes]
rs7667438	0.84[ASN][1000 genomes]
rs7673022	0.89[ASN][1000 genomes]
rs7676343	0.82[ASN][1000 genomes]
rs7679438	0.89[ASN][1000 genomes]
rs7681755	0.92[AFR][1000 genomes]
rs7694880	0.84[ASN][1000 genomes]
rs7695330	0.89[ASN][1000 genomes]
rs9307489	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9715410	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9993157	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80165400-80171200	Weak transcription	K562	blood
2	chr4:80165400-80194000	Weak transcription	Aorta	Aorta
3	chr4:80169000-80173000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr4:80170000-80171000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:80170000-80171800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:80170200-80171000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:80170400-80172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:80170400-80172200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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