Variant report

Variant	rs62244813
Chromosome Location	chr3:46355147-46355148
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr3:46354281-46355155	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr3:46354451-46355220	T-47D	breast:	n/a	chr3:46354615-46354624

Variant related genes	Relation type
UQCRC2P1	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1034382	0.90[EUR][1000 genomes]
rs10865940	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11130089	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11711054	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2040389	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2040390	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2097283	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2157057	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2157058	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2157059	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2187669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187670	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2213288	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2213291	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2213292	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2373226	0.91[EUR][1000 genomes]
rs3092962	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3092964	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34148191	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34193387	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34505903	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34997146	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35053103	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35465430	0.88[AMR][1000 genomes]
rs35510257	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35675823	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35971655	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36030342	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs36048784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36118141	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3762823	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3918359	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3918361	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41276529	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4134396	0.83[ASN][1000 genomes]
rs41418050	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs41502550	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682812	0.81[AMR][1000 genomes]
rs4683194	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683199	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683211	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683215	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683218	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62244827	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62244840	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62244848	0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6441950	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441958	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441959	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441961	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6441962	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6441963	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6441964	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6441968	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67450950	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6765031	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6767895	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6771900	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6775208	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6783993	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6785878	0.81[ASN][1000 genomes]
rs6788723	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6788849	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6794300	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6801761	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6810232	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71327045	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7371987	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7372094	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7374654	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7374671	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7432080	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7612940	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626249	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7634816	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7635588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs768539	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs963045	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9813756	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9818053	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9839623	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9840204	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9852052	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9856098	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9875668	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9877860	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:46350800-46367600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46352400-46355600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr3:46352600-46358000	Weak transcription	Spleen	Spleen
4	chr3:46353800-46355600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:46354000-46356800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:46354400-46356000	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46355000-46359600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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