Variant report

Variant	rs56230603
Chromosome Location	chr7:105165268-105165269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:105165265-105165681	GM12891	blood:	n/a	n/a
2	POU2F2	chr7:105164999-105165296	GM12891	blood:	n/a	n/a
3	SPI1	chr7:105165009-105165974	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:
2	chr5:148110184..148110980-chr7:105164824..105165344,2	MCF-7	breast:
3	chr7:105165151..105169952-chr7:105171142..105174252,8	MCF-7	breast:
4	chr7:105164878..105167399-chrX:150160313..150162804,2	MCF-7	breast:
5	chr7:105161098..105164204-chr7:105164483..105168107,5	MCF-7	breast:

No data

Variant related genes	Relation type
PUS7	TF binding region
ENSG00000135249	Chromatin interaction
ENSG00000230508	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000223886	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11556986	0.90[EUR][1000 genomes]
rs1355614	0.88[EUR][1000 genomes]
rs1569134	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1706908	0.88[EUR][1000 genomes]
rs1721498	0.85[EUR][1000 genomes]
rs1721500	0.83[EUR][1000 genomes]
rs17343556	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1976969	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2392749	0.87[EUR][1000 genomes]
rs3892297	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3892298	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4074939	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4083246	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55691539	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55700120	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55740553	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55794529	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55825845	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55906043	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55922564	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55967123	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55983796	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56055535	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56165465	0.91[EUR][1000 genomes]
rs56177071	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56239334	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251768	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56268110	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56379434	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs68153235	0.86[EUR][1000 genomes]
rs6943132	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6944787	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6953851	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6955796	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6956234	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6956249	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6957192	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6957424	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6961233	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961863	0.91[EUR][1000 genomes]
rs6963495	0.82[AMR][1000 genomes]
rs6969426	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6973263	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6973974	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6977748	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs711430	0.88[EUR][1000 genomes]
rs711431	0.84[EUR][1000 genomes]
rs73190133	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190149	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190151	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190155	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190156	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190158	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190161	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190163	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190166	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73190167	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190169	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73190172	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190174	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190175	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73190178	0.87[AFR][1000 genomes]
rs73190179	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73190181	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190183	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190184	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73190186	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190187	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190189	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190193	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190200	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190201	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73190202	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73192105	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192107	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192115	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73192120	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192122	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192124	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192125	0.91[EUR][1000 genomes]
rs73192126	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73192134	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73192141	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73192143	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73192144	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73192145	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73192149	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73192150	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73192151	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73192152	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73192153	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7777343	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs818619	0.87[EUR][1000 genomes]
rs818620	0.88[EUR][1000 genomes]
rs818621	0.88[EUR][1000 genomes]
rs818628	0.82[EUR][1000 genomes]
rs9769403	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888930	chr7:105012975-105170476	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
13	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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 lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	esv1793037	chr7:105137305-105167132	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
18	nsv8197	chr7:105160920-105166965	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105163200-105167800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr7:105163200-105171800	Weak transcription	Thymus	Thymus
3	chr7:105163400-105165400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr7:105163400-105167600	Weak transcription	A549	lung
5	chr7:105163400-105171600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:105163600-105165400	Weak transcription	GM12878-XiMat	blood
7	chr7:105165200-105165600	Enhancers	Primary B cells from cord blood	blood
8	chr7:105165200-105165800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr7:105165200-105165800	Enhancers	Primary B cells from peripheral blood	blood

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