Variant report

Variant	rs72774123
Chromosome Location	chr10:5886621-5886622
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	GATA3	chr10:5886540-5886859	T-47D	breast:	n/a	n/a
2	POLR2A	chr10:5885729-5887374	GM12891	blood:	n/a	n/a
3	MTA3	chr10:5886366-5886963	GM12878	blood:	n/a	n/a
4	STAT5A	chr10:5886080-5886991	GM12878	blood:	n/a	chr10:5886768-5886776
5	POLR2A	chr10:5886342-5887529	Raji	blood:	n/a	n/a
6	PML	chr10:5885730-5887074	GM12878	blood:	n/a	n/a
7	POLR2A	chr10:5886300-5886849	K562	blood:	n/a	n/a
8	GATA3	chr10:5886423-5886934	MCF-7	breast:	n/a	n/a
9	CTCF	chr10:5886560-5886710	GM06990	blood:	n/a	n/a
10	RELA	chr10:5885788-5887156	GM12891	blood:	n/a	chr10:5886091-5886100 chr10:5886091-5886100
11	NFIC	chr10:5885610-5886992	GM12878	blood:	n/a	n/a
12	GATA3	chr10:5886405-5887147	MCF-7	breast:	n/a	n/a
13	RELA	chr10:5885874-5887164	GM19099	blood:	n/a	chr10:5886091-5886100 chr10:5886091-5886100
14	MTA3	chr10:5885741-5887324	GM12878	blood:	n/a	n/a
15	BHLHE40	chr10:5886564-5887354	GM12878	blood:	n/a	chr10:5887189-5887202 chr10:5887201-5887217 chr10:5887185-5887206 chr10:5887191-5887200 chr10:5887192-5887201 chr10:5887190-5887199 chr10:5887191-5887200
16	FOXM1	chr10:5886553-5887273	GM12878	blood:	n/a	n/a
17	RELA	chr10:5885814-5887062	GM19193	blood:	n/a	chr10:5886091-5886100 chr10:5886091-5886100

No.	Distal block	Cell Line	Cell type
1	chr10:5854620..5857118-chr10:5886149..5888419,4	K562	blood:
2	chr10:5874603..5876795-chr10:5886014..5887751,3	MCF-7	breast:
3	chr10:5886207..5890565-chr10:5893992..5897304,3	K562	blood:
4	chr10:5868411..5871104-chr10:5884225..5887747,3	K562	blood:
5	chr10:5852473..5857853-chr10:5880942..5888645,8	MCF-7	breast:
6	chr10:5851570..5858995-chr10:5881654..5887342,9	K562	blood:

Variant related genes	Relation type
GDI2	TF binding region
ENSG00000057608	Chromatin interaction
ENSG00000272764	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs35300424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7076018	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv5654	chr10:5868365-5930634	Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv982902	chr10:5872818-5889953	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3342274	chr10:5875995-5901345	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1794948	chr10:5880066-5892545	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1795821	chr10:5880066-5893268	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1801910	chr10:5881740-5898882	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1801679	chr10:5883033-5891501	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1793088	chr10:5883308-5892545	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3528067	chr10:5884196-5893994	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3528068	chr10:5884196-5893994	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1802022	chr10:5886149-5891501	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv1850053	chr10:5886435-5892515	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5882200-5886800	Weak transcription	NHLF	lung
2	chr10:5882600-5886800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:5882600-5888000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr10:5882800-5886800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:5882800-5886800	Weak transcription	NHDF-Ad	bronchial
6	chr10:5882800-5888200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr10:5883000-5886800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr10:5883000-5886800	Weak transcription	Left Ventricle	heart
9	chr10:5883000-5887000	Weak transcription	Adipose Nuclei	Adipose
10	chr10:5883200-5887000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:5883200-5888000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr10:5883200-5897000	Enhancers	Primary B cells from peripheral blood	blood
13	chr10:5883400-5886800	Weak transcription	Brain Angular Gyrus	brain
14	chr10:5883400-5887000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:5883400-5887000	Weak transcription	Fetal Muscle Leg	muscle
16	chr10:5883400-5889000	Enhancers	Primary B cells from cord blood	blood
17	chr10:5883800-5888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr10:5884000-5887400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:5885600-5886800	Enhancers	K562	blood
20	chr10:5886000-5887200	Flanking Active TSS	GM12878-XiMat	blood
21	chr10:5886000-5888200	Enhancers	HepG2	liver
22	chr10:5886200-5886800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr10:5886200-5886800	Weak transcription	Stomach Mucosa	stomach
24	chr10:5886200-5887200	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr10:5886200-5889400	Enhancers	Placenta	Placenta
26	chr10:5886400-5886800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:5886400-5886800	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:5886400-5887000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr10:5886400-5887200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr10:5886400-5887400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:5886400-5887600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:5886400-5888600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:5886600-5886800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:5886600-5886800	Flanking Active TSS	Fetal Heart	heart
35	chr10:5886600-5887200	Enhancers	Ovary	ovary
36	chr10:5886600-5887200	Enhancers	Placenta Amnion	Placenta Amnion
37	chr10:5886600-5887200	Enhancers	NHEK	skin
38	chr10:5886600-5888400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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