Variant report

Variant	rs7832411
Chromosome Location	chr8:96032471-96032472
allele	C/T
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	chr8:96032377-96032734	HL-60	blood:	n/a	chr8:96032482-96032495 chr8:96032484-96032493 chr8:96032483-96032496
2	SPI1	chr8:96032325-96032619	GM12891	blood:	n/a	chr8:96032482-96032495 chr8:96032484-96032493 chr8:96032483-96032496
3	SPI1	chr8:96032398-96032617	K562	blood:	n/a	chr8:96032482-96032495 chr8:96032484-96032493 chr8:96032483-96032496
4	JUND	chr8:96032395-96032760	K562	blood:	n/a	n/a
5	SPI1	chr8:96032405-96032583	K562	blood:	n/a	chr8:96032482-96032495 chr8:96032484-96032493 chr8:96032483-96032496
6	SPI1	chr8:96032325-96032625	GM12878	blood:	n/a	chr8:96032482-96032495 chr8:96032484-96032493 chr8:96032483-96032496

No.	Distal block	Cell Line	Cell type
1	chr8:95907238..95908885-chr8:96031801..96033415,2	K562	blood:
2	chr8:96029908..96032764-chr8:96033238..96034870,2	K562	blood:
3	chr8:96029908..96032695-chr8:96032996..96034738,2	K562	blood:
4	chr8:95977560..95980300-chr8:96031568..96033219,2	MCF-7	breast:
5	chr8:96031972..96033668-chr8:96035592..96037179,2	MCF-7	breast:
6	chr8:96022490..96024943-chr8:96031523..96033508,2	MCF-7	breast:
7	chr8:96026673..96028534-chr8:96030617..96033209,2	K562	blood:
8	chr8:95959565..95963058-chr8:96031680..96034201,4	MCF-7	breast:

Variant related genes	Relation type
NDUFAF6	TF binding region
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10090293	0.87[YRI][hapmap]
rs10095570	0.87[YRI][hapmap]
rs57065540	0.83[AMR][1000 genomes]
rs57068400	1.00[AMR][1000 genomes]
rs58963249	1.00[AMR][1000 genomes]
rs59319685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60541843	1.00[AMR][1000 genomes]
rs61166437	1.00[AMR][1000 genomes]
rs61287848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61442579	1.00[AMR][1000 genomes]
rs61454116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6471507	1.00[AMR][1000 genomes]
rs6471508	1.00[AMR][1000 genomes]
rs6987951	0.83[AMR][1000 genomes]
rs7003431	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs7813759	1.00[AMR][1000 genomes]
rs7824488	0.85[YRI][hapmap];1.00[AMR][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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96003200-96032600	Weak transcription	Gastric	stomach
2	chr8:96009000-96036400	Weak transcription	Spleen	Spleen
3	chr8:96023400-96032600	Weak transcription	Right Atrium	heart
4	chr8:96023400-96036600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:96024800-96036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:96026400-96033600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:96026800-96032600	Weak transcription	Left Ventricle	heart
8	chr8:96026800-96036400	Weak transcription	HMEC	breast
9	chr8:96029400-96033200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr8:96029600-96032600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:96029600-96036400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:96029800-96036600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:96030200-96033000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:96030800-96033000	Enhancers	Primary B cells from cord blood	blood
15	chr8:96030800-96033000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:96031200-96032600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:96031200-96032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:96031200-96033400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:96031800-96032800	Enhancers	GM12878-XiMat	blood
20	chr8:96032000-96033200	Enhancers	Primary hematopoietic stem cells	blood
21	chr8:96032400-96032600	Weak transcription	Right Ventricle	heart
22	chr8:96032400-96033000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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