Variant report

Variant	rs851167
Chromosome Location	chr1:223354470-223354471
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	POLR2A	chr1:223353982-223354614	SK-N-MC	brain:	n/a	n/a
2	E2F4	chr1:223354181-223354538	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr1:223354184-223354578	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:223354113-223354661	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:223354173-223354663	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr1:223354156-223354568	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:223354137-223354514	MCF10A-Er-Src	breast:	n/a	n/a
8	EBF1	chr1:223354041-223354700	GM12878	blood:	n/a	n/a
9	MAX	chr1:223353897-223354716	NB4	blood:	n/a	n/a
10	EP300	chr1:223354011-223354548	GM12878	blood:	n/a	chr1:223354341-223354355 chr1:223354242-223354256 chr1:223354391-223354400
11	SPI1	chr1:223354029-223354660	HL-60	blood:	n/a	chr1:223354389-223354402 chr1:223354247-223354256
12	MYC	chr1:223354134-223354818	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr1:223354116-223354740	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr1:223354052-223354615	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:223354184-223354647	MCF10A-Er-Src	breast:	n/a	n/a
16	WRNIP1	chr1:223353987-223354720	GM12878	blood:	n/a	n/a
17	FOS	chr1:223354229-223354519	MCF10A-Er-Src	breast:	n/a	n/a
18	MYC	chr1:223354068-223354604	NB4	blood:	n/a	n/a
19	CUX1	chr1:223353847-223354523	GM12878	blood:	n/a	n/a
20	STAT3	chr1:223354133-223354646	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000226601	TF binding region

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1640801	0.92[AFR][1000 genomes]
rs1773751	0.88[AFR][1000 genomes]
rs1773752	0.88[AFR][1000 genomes]
rs1773764	0.88[AFR][1000 genomes]
rs2430412	1.00[AFR][1000 genomes]
rs851169	1.00[AFR][1000 genomes]
rs851172	1.00[AFR][1000 genomes]
rs851175	0.92[AFR][1000 genomes]
rs864833	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223347800-223357600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:223348800-223355400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:223349600-223355000	Enhancers	Adipose Nuclei	Adipose
4	chr1:223349600-223355000	Enhancers	Placenta	Placenta
5	chr1:223349800-223375400	Weak transcription	Right Atrium	heart
6	chr1:223350000-223355800	Enhancers	Fetal Thymus	thymus
7	chr1:223350200-223355400	Enhancers	Liver	Liver
8	chr1:223352800-223358600	Enhancers	Primary T cells from cord blood	blood
9	chr1:223353000-223354600	Enhancers	Brain Hippocampus Middle	brain
10	chr1:223353000-223362000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:223353200-223356200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:223353400-223354800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:223353400-223355200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:223353400-223355400	Weak transcription	Esophagus	oesophagus
15	chr1:223353400-223355600	Enhancers	Stomach Mucosa	stomach
16	chr1:223353600-223354800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:223353600-223354800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:223353600-223354800	Enhancers	Brain Anterior Caudate	brain
19	chr1:223353600-223355000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr1:223353600-223355200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:223353800-223354600	Enhancers	Colon Smooth Muscle	Colon
22	chr1:223353800-223354800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
23	chr1:223353800-223354800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:223353800-223354800	Enhancers	Fetal Lung	lung
25	chr1:223353800-223354800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr1:223353800-223355000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:223353800-223355000	Enhancers	NHEK	skin
28	chr1:223353800-223355200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr1:223353800-223357200	Enhancers	HMEC	breast
30	chr1:223354000-223354600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:223354000-223354800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr1:223354000-223355400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:223354200-223354600	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:223354200-223354600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:223354200-223354600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:223354200-223354600	Enhancers	Fetal Kidney	kidney
37	chr1:223354200-223354800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:223354200-223354800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:223354200-223354800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
40	chr1:223354200-223354800	Enhancers	HSMMtube	muscle
41	chr1:223354200-223355000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:223354400-223354800	Enhancers	Brain Substantia Nigra	brain
43	chr1:223354400-223354800	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:223354400-223354800	Enhancers	Fetal Stomach	stomach
45	chr1:223354400-223355000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:223354400-223355400	Enhancers	Pancreas	Pancrea
47	chr1:223354400-223355600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr1:223354400-223357200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:223354400-223357600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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