Variant report

Variant	rs73114482
Chromosome Location	chr1:224032077-224032078
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
2	chr1:224008280..224010029-chr1:224031930..224034078,2	MCF-7	breast:
3	chr1:223946118..223948586-chr1:224030758..224033152,2	K562	blood:
4	chr1:224030638..224033175-chr1:224122761..224125405,2	K562	blood:
5	chr1:224011037..224013548-chr1:224029939..224032384,3	MCF-7	breast:
6	chr1:223958219..223959890-chr1:224031249..224033872,2	K562	blood:
7	chr1:223899759..223901489-chr1:224030883..224033476,2	MCF-7	breast:
8	chr1:223997873..223999794-chr1:224029438..224032178,2	MCF-7	breast:
9	chr1:224031495..224036851-chr1:224037356..224045519,10	MCF-7	breast:
10	chr1:224001116..224004491-chr1:224031166..224035522,4	K562	blood:
11	chr1:224000966..224003720-chr1:224029904..224032182,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162909	Chromatin interaction
ENSG00000143514	Chromatin interaction
ENSG00000227621	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12038706	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[AMR][1000 genomes]
rs57108544	1.00[AMR][1000 genomes]
rs57153784	1.00[AMR][1000 genomes]
rs58391315	1.00[AMR][1000 genomes]
rs59173114	1.00[AMR][1000 genomes]
rs60245976	1.00[AMR][1000 genomes]
rs60956486	1.00[AMR][1000 genomes]
rs73114404	1.00[AMR][1000 genomes]
rs73114500	1.00[AMR][1000 genomes]
rs73115632	1.00[AMR][1000 genomes]
rs73116433	1.00[AMR][1000 genomes]
rs73116444	1.00[AMR][1000 genomes]
rs73116448	1.00[AMR][1000 genomes]
rs73127419	1.00[AMR][1000 genomes]
rs73127431	1.00[AMR][1000 genomes]
rs73127434	1.00[AMR][1000 genomes]
rs73127439	1.00[AMR][1000 genomes]
rs73128039	1.00[AMR][1000 genomes]
rs73128040	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73128044	1.00[AMR][1000 genomes]
rs73131132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73131150	1.00[AMR][1000 genomes]
rs73131157	1.00[AMR][1000 genomes]
rs73131162	1.00[AMR][1000 genomes]
rs73131164	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224020600-224032400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:224025600-224032200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:224026400-224032400	Weak transcription	Lung	lung
4	chr1:224026400-224032600	Weak transcription	Spleen	Spleen
5	chr1:224029000-224032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:224029400-224032200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr1:224030000-224032200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:224030000-224032200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:224030200-224032200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:224030200-224032400	Weak transcription	Placenta	Placenta
11	chr1:224030200-224032400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr1:224030400-224034400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:224030600-224034600	Active TSS	Aorta	Aorta
14	chr1:224030800-224032400	Weak transcription	Small Intestine	intestine
15	chr1:224031000-224032400	Weak transcription	Pancreas	Pancrea
16	chr1:224031400-224032200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:224031600-224032200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:224031600-224032200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:224031600-224032200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:224031600-224032200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:224031600-224032200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:224031600-224032200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:224031600-224032200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:224031600-224032200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:224031600-224032200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr1:224031600-224032200	Flanking Active TSS	Fetal Kidney	kidney
27	chr1:224031600-224032400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:224031600-224032400	Enhancers	Primary B cells from peripheral blood	blood
29	chr1:224031600-224032400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:224031600-224032400	Flanking Active TSS	Liver	Liver
31	chr1:224031600-224032400	Flanking Active TSS	Fetal Brain Male	brain
32	chr1:224031600-224032400	Enhancers	Stomach Mucosa	stomach
33	chr1:224031600-224032600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr1:224031600-224032600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr1:224031600-224032600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:224031600-224032600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:224031600-224032600	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr1:224031600-224032600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:224031600-224032800	Flanking Active TSS	Dnd41	blood
40	chr1:224031600-224032800	Flanking Active TSS	Hela-S3	cervix
41	chr1:224031600-224032800	Flanking Active TSS	HUVEC	blood vessel
42	chr1:224031600-224033000	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr1:224031600-224033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:224031600-224033000	Active TSS	Right Atrium	heart
45	chr1:224031600-224034200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:224031600-224034200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:224031600-224034400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:224031600-224034400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:224031600-224034400	Active TSS	NHLF	lung
50	chr1:224031600-224034600	Active TSS	HUES64 Cell Line	embryonic stem cell

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