Variant report

Variant	rs60169753
Chromosome Location	chr12:56102702-56102703
allele	G/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	chr12:56102387-56102889	GM12878	blood:	n/a	chr12:56102583-56102596 chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676
2	SPI1	chr12:56102621-56102960	GM12891	blood:	n/a	chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676
3	SPI1	chr12:56102656-56102928	GM12891	blood:	n/a	chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676
4	SPI1	chr12:56102577-56103062	HL-60	blood:	n/a	chr12:56102583-56102596 chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676
5	SPI1	chr12:56102639-56102989	GM12878	blood:	n/a	chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676
6	SPI1	chr12:56102691-56102924	K562	blood:	n/a	chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102823-56102836 chr12:56102817-56102830
7	SPI1	chr12:56102578-56103016	HL-60	blood:	n/a	chr12:56102583-56102596 chr12:56102816-56102829 chr12:56102818-56102827 chr12:56102667-56102680 chr12:56102823-56102836 chr12:56102817-56102830 chr12:56102661-56102674 chr12:56102669-56102676

No.	Distal block	Cell Line	Cell type
1	chr12:56099553..56102772-chr12:56120884..56124385,4	K562	blood:
2	chr12:56087825..56091107-chr12:56100020..56103608,4	K562	blood:
3	chr12:56098605..56104708-chr12:56107025..56111403,7	MCF-7	breast:
4	chr12:56099897..56102707-chr12:56112712..56115453,3	K562	blood:
5	chr12:56098994..56103683-chr12:56119699..56126107,8	MCF-7	breast:

Variant related genes	Relation type
ITGA7	TF binding region
ENSG00000258311	Chromatin interaction
ENSG00000135441	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000135437	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000135424	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11613875	0.96[EUR][1000 genomes]
rs11615467	0.87[EUR][1000 genomes]
rs17117860	0.96[EUR][1000 genomes]
rs17117883	0.96[EUR][1000 genomes]
rs17117895	1.00[EUR][1000 genomes]
rs73119213	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948625	chr12:55838718-56118833	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv525231	chr12:56076919-56124332	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832423	chr12:56080822-56253698	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
4	nsv469410	chr12:56098038-56170893	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv559004	chr12:56098038-56170893	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56097400-56105000	Active TSS	Aorta	Aorta
2	chr12:56097800-56107400	Active TSS	Left Ventricle	heart
3	chr12:56100800-56102800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:56101000-56102800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:56101200-56102800	Active TSS	Brain Cingulate Gyrus	brain
6	chr12:56101400-56102800	Enhancers	Spleen	Spleen
7	chr12:56101600-56102800	Bivalent Enhancer	Fetal Thymus	thymus
8	chr12:56101800-56103200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr12:56102000-56102800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:56102000-56102800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:56102000-56102800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:56102000-56102800	Bivalent Enhancer	K562	blood
13	chr12:56102000-56103000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr12:56102000-56103000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:56102000-56103400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:56102000-56103400	Bivalent Enhancer	Placenta	Placenta
17	chr12:56102000-56103400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr12:56102000-56103800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr12:56102000-56103800	Flanking Active TSS	Fetal Heart	heart
20	chr12:56102200-56102800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:56102200-56102800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:56102200-56102800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:56102200-56102800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:56102200-56102800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:56102200-56102800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:56102200-56102800	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr12:56102200-56102800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:56102200-56102800	Enhancers	Esophagus	oesophagus
29	chr12:56102200-56102800	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr12:56102200-56102800	Bivalent Enhancer	NH-A	brain
31	chr12:56102200-56102800	Flanking Active TSS	Osteobl	bone
32	chr12:56102200-56103000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:56102200-56103000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr12:56102200-56103000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:56102200-56103000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr12:56102200-56103000	Bivalent Enhancer	Fetal Lung	lung
37	chr12:56102200-56103000	Bivalent Enhancer	GM12878-XiMat	blood
38	chr12:56102200-56103000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr12:56102200-56103600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr12:56102200-56103600	Enhancers	Colonic Mucosa	Colon
41	chr12:56102200-56103600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr12:56102200-56103800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:56102400-56102800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:56102400-56102800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:56102400-56102800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
46	chr12:56102400-56102800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr12:56102400-56102800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr12:56102400-56102800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:56102400-56102800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:56102400-56102800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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