Variant report

Variant	rs73131150
Chromosome Location	chr1:224014316-224014317
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	chr1:224014017-224014499	HL-60	blood:	n/a	n/a
2	CEBPB	chr1:224014303-224014401	A549	lung:	n/a	n/a

Variant related genes	Relation type
TP53BP2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12038706	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842157	1.00[AMR][1000 genomes]
rs16842168	1.00[AMR][1000 genomes]
rs16842198	1.00[AMR][1000 genomes]
rs28370148	1.00[AMR][1000 genomes]
rs28370168	1.00[AMR][1000 genomes]
rs28370180	1.00[AMR][1000 genomes]
rs28370183	1.00[AMR][1000 genomes]
rs56831338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57108544	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57153784	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs59173114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60245976	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60799191	0.98[AFR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114482	1.00[AMR][1000 genomes]
rs73114500	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114501	0.80[AFR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116403	0.82[AFR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73127439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	1.00[AMR][1000 genomes]
rs73128044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131132	1.00[AMR][1000 genomes]
rs73131157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131164	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224002000-224015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:224002200-224020200	Weak transcription	Placenta	Placenta
5	chr1:224002200-224020200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:224003800-224014800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:224004200-224014800	Weak transcription	HMEC	breast
8	chr1:224007000-224024000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:224007400-224015200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:224007800-224020200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:224008000-224017000	Weak transcription	Fetal Kidney	kidney
12	chr1:224008000-224019800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:224008200-224019400	Weak transcription	Hela-S3	cervix
14	chr1:224008600-224015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:224008600-224019400	Weak transcription	A549	lung
16	chr1:224008800-224020200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:224009000-224014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:224009000-224014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:224009000-224018800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:224009000-224019400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:224009000-224019400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:224009000-224020400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:224009200-224014800	Weak transcription	NHEK	skin
24	chr1:224009200-224015000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:224009200-224019600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:224009200-224020400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:224009400-224014600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:224009400-224014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:224009400-224014800	Weak transcription	Fetal Stomach	stomach
30	chr1:224009400-224015000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:224009400-224019400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:224009400-224019800	Weak transcription	HSMM	muscle
33	chr1:224009400-224019800	Weak transcription	NHDF-Ad	bronchial
34	chr1:224009400-224020200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:224009400-224023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:224010000-224015400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:224010200-224026400	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr1:224010400-224014800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:224010600-224015400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:224010800-224015200	Enhancers	Primary T cells from cord blood	blood
41	chr1:224010800-224015400	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:224010800-224015600	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr1:224011000-224015000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr1:224011000-224020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:224011200-224019400	Weak transcription	NH-A	brain
46	chr1:224011200-224019400	Weak transcription	Osteobl	bone
47	chr1:224011400-224019600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:224011800-224015200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr1:224011800-224015400	Enhancers	Pancreas	Pancrea
50	chr1:224012000-224015400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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