Variant report

Variant	rs4871557
Chromosome Location	chr8:125871112-125871113
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	chr8:125870914-125871198	HL-60	blood:	n/a	chr8:125871044-125871057 chr8:125871047-125871054
2	SPI1	chr8:125870931-125871123	K562	blood:	n/a	chr8:125871044-125871057 chr8:125871047-125871054

No.	Distal block	Cell Line	Cell type
1	chr8:125870078..125872946-chr8:125880944..125883376,2	K562	blood:
2	chr8:125866488..125871186-chr8:126008597..126013344,9	MCF-7	breast:
3	chr8:125849910..125851599-chr8:125869943..125871688,2	MCF-7	breast:
4	chr8:125870030..125871866-chr8:125906853..125908897,2	MCF-7	breast:
5	chr8:125824915..125827447-chr8:125870554..125873163,2	K562	blood:

Variant related genes	Relation type
ENSG00000255080	TF binding region
ENSG00000104549	Chromatin interaction
ENSG00000253513	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10956221	0.89[ASN][1000 genomes]
rs11987831	0.89[ASN][1000 genomes]
rs12681718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[ASN][1000 genomes]
rs13252227	0.86[ASN][1000 genomes]
rs13269995	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1365690	0.86[MEX][hapmap]
rs28812857	0.98[AMR][1000 genomes]
rs4870929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4870930	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871559	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4871561	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs4871566	0.82[ASW][hapmap];0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap]
rs6470291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470293	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6470295	0.91[ASN][1000 genomes]
rs6470297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6470299	0.89[ASN][1000 genomes]
rs6470301	0.86[ASN][1000 genomes]
rs6470304	0.86[ASN][1000 genomes]
rs6470310	0.81[CHB][hapmap]
rs6470311	0.87[MEX][hapmap]
rs6470315	0.81[CHB][hapmap]
rs6470316	0.81[CHB][hapmap]
rs6470317	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap]
rs6990879	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7004579	0.86[MEX][hapmap]
rs7011950	0.81[CHB][hapmap]
rs7016723	0.86[ASN][1000 genomes]
rs7387254	0.81[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap]
rs7459652	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7461228	0.86[ASN][1000 genomes]
rs7463183	0.89[ASN][1000 genomes]
rs7463657	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7464187	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs7464601	0.86[ASN][1000 genomes]
rs7819873	0.81[CHB][hapmap]
rs7820706	0.81[CHB][hapmap]
rs7820918	0.86[ASN][1000 genomes]
rs7845589	0.91[ASN][1000 genomes]
rs9987227	0.90[ASW][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:125869400-125872600	Weak transcription	NHDF-Ad	bronchial
2	chr8:125869400-125873400	Weak transcription	Right Atrium	heart
3	chr8:125869400-125876400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:125869600-125872600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:125869600-125873600	Weak transcription	Right Ventricle	heart
6	chr8:125869800-125873200	Weak transcription	Ovary	ovary
7	chr8:125869800-125873200	Weak transcription	K562	blood
8	chr8:125869800-125873400	Weak transcription	Left Ventricle	heart
9	chr8:125869800-125874000	Weak transcription	Osteobl	bone
10	chr8:125869800-125874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125869800-125878200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:125870000-125873400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr8:125870200-125874000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:125870200-125879000	Weak transcription	Fetal Heart	heart
15	chr8:125870400-125871200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:125870600-125871200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr8:125870600-125871400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125870600-125879200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125870800-125871200	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:125870800-125871200	ZNF genes & repeats	NHEK	skin
21	chr8:125871000-125871600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus

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