Variant report

Variant	rs28928583
Chromosome Location	chr8:103233685-103233686
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	chr8:103233524-103233785	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103232033..103234810-chr8:103243383..103246591,3	K562	blood:
2	chr8:103228632..103231475-chr8:103233199..103236047,2	MCF-7	breast:
3	chr8:103233367..103236328-chr8:103240756..103243276,2	MCF-7	breast:

Variant related genes	Relation type
RRM2B	TF binding region
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1037698	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10505023	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10505026	1.00[ASN][1000 genomes]
rs11575866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11783533	1.00[ASN][1000 genomes]
rs16869246	1.00[ASN][1000 genomes]
rs17185155	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17185245	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17432015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17433890	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17509673	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17512347	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17512821	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1824194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28927372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28928606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28999709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs29000281	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs29000284	0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3204695	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34739767	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35066978	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4102401	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56273032	1.00[ASN][1000 genomes]
rs58160045	1.00[ASN][1000 genomes]
rs73285249	1.00[ASN][1000 genomes]
rs73285260	1.00[ASN][1000 genomes]
rs7836803	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020359	chr8:103109921-103318415	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033829	chr8:103110057-103525696	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1021459	chr8:103163436-103401754	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv539701	chr8:103163436-103401754	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1025935	chr8:103199207-103468322	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1018990	chr8:103207922-103357742	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv539702	chr8:103207922-103357742	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1028890	chr8:103207922-103401754	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv891242	chr8:103210971-103282418	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv891243	chr8:103219629-103292724	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103209800-103233800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:103209800-103236800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:103209800-103239200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:103209800-103244800	Weak transcription	Stomach Mucosa	stomach
5	chr8:103210600-103239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103215600-103248400	Weak transcription	Psoas Muscle	Psoas
7	chr8:103216200-103247400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:103216400-103245200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:103216400-103246600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:103217000-103248400	Weak transcription	Small Intestine	intestine
11	chr8:103217200-103240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:103217200-103240200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:103217200-103240200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:103217400-103238400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:103217800-103239800	Weak transcription	K562	blood
16	chr8:103217800-103246400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:103218000-103246200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:103218400-103238600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:103218400-103240000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:103218600-103244200	Weak transcription	Fetal Heart	heart
21	chr8:103219200-103238400	Strong transcription	Liver	Liver
22	chr8:103219200-103247600	Weak transcription	Fetal Brain Male	brain
23	chr8:103220200-103237200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:103220400-103248800	Weak transcription	Hela-S3	cervix
25	chr8:103221000-103236200	Weak transcription	NHEK	skin
26	chr8:103221800-103238600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:103222600-103246000	Strong transcription	Osteobl	bone
28	chr8:103223200-103238200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:103223200-103238400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:103223200-103238600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr8:103225200-103237000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr8:103226400-103240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr8:103227600-103238200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:103227600-103246800	Strong transcription	Primary B cells from cord blood	blood
35	chr8:103227800-103237400	Strong transcription	NHDF-Ad	bronchial
36	chr8:103228000-103242200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:103228600-103238400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:103229400-103237400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:103229400-103239000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:103229600-103234600	Strong transcription	A549	lung
41	chr8:103229600-103237600	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr8:103229600-103240200	Strong transcription	Placenta	Placenta
43	chr8:103229600-103246800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr8:103229800-103234600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr8:103229800-103234800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:103229800-103234800	Strong transcription	HSMMtube	muscle
47	chr8:103229800-103235200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr8:103229800-103236000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:103229800-103236000	Strong transcription	GM12878-XiMat	blood
50	chr8:103229800-103237400	Strong transcription	Duodenum Mucosa	Duodenum

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