Variant report

Variant	rs28611230
Chromosome Location	chr7:112784338-112784339
allele	C/G
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	SPI1	chr7:112784083-112784387	GM12878	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
2	SPI1	chr7:112783943-112784697	GM12878	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
3	SPI1	chr7:112784001-112784463	HL-60	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
4	SPI1	chr7:112783990-112784461	GM12891	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
5	EP300	chr7:112784124-112784439	GM12878	blood:	n/a	chr7:112784243-112784252 chr7:112784239-112784253
6	SPI1	chr7:112784184-112784361	GM12878	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
7	SPI1	chr7:112783882-112784536	HL-60	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255
8	SPI1	chr7:112784022-112784388	GM12891	blood:	n/a	chr7:112784239-112784248 chr7:112784241-112784254 chr7:112784242-112784255 chr7:112784242-112784255

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112759649..112762090-chr7:112783076..112784947,2	K562	blood:

Variant related genes	Relation type
ENSG00000225457	TF binding region

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10228219	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10232392	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241250	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10241676	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245889	0.81[EUR][1000 genomes]
rs10249359	0.96[ASN][1000 genomes]
rs10252483	0.93[ASN][1000 genomes]
rs10257223	0.83[EUR][1000 genomes]
rs10258099	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261482	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261563	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10261938	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267575	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10267803	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10270797	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10273772	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10278104	0.89[ASN][1000 genomes]
rs10500019	0.93[ASN][1000 genomes]
rs12668635	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670138	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12670645	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12672405	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12672763	0.83[EUR][1000 genomes]
rs17160251	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17160260	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2246845	0.93[ASN][1000 genomes]
rs2272261	0.96[ASN][1000 genomes]
rs28380351	0.83[EUR][1000 genomes]
rs28398308	0.83[EUR][1000 genomes]
rs28555529	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28584842	0.93[ASN][1000 genomes]
rs28668244	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28754698	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55742252	0.96[ASN][1000 genomes]
rs56894227	0.89[ASN][1000 genomes]
rs60549935	0.83[EUR][1000 genomes]
rs73715560	0.81[EUR][1000 genomes]
rs7791404	0.96[ASN][1000 genomes]
rs7808251	0.93[ASN][1000 genomes]
rs872944	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv889059	chr7:112755548-112908788	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889060	chr7:112766082-112994137	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112779400-112785800	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr7:112781800-112786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:112782000-112784400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:112782600-112784600	Enhancers	GM12878-XiMat	blood
5	chr7:112782800-112786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:112783000-112784400	Enhancers	Brain Hippocampus Middle	brain
7	chr7:112783200-112785800	Enhancers	K562	blood
8	chr7:112783600-112784400	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:112783600-112784400	Enhancers	Fetal Brain Male	brain
10	chr7:112783800-112784400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:112783800-112785000	Weak transcription	Brain Anterior Caudate	brain

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