Variant report

Variant	rs73125533
Chromosome Location	chr1:224590387-224590388
allele	A/C
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	MAFK	chr1:224590353-224590708	H1-hESC	embryonic stem cell:	n/a	chr1:224590527-224590542
2	MAFK	chr1:224590352-224590721	HepG2	liver:	n/a	chr1:224590527-224590542
3	MAFF	chr1:224590352-224590721	K562	blood:	n/a	chr1:224590525-224590543
4	MAFK	chr1:224590349-224590724	HepG2	liver:	n/a	chr1:224590527-224590542
5	MAFK	chr1:224590339-224590722	K562	blood:	n/a	chr1:224590527-224590542
6	MAFK	chr1:224590171-224590859	GM12878	blood:	n/a	chr1:224590527-224590542
7	MAFK	chr1:224590321-224590724	Hela-S3	cervix:	n/a	chr1:224590527-224590542
8	MAFK	chr1:224590348-224590725	IMR90	lung:	n/a	chr1:224590527-224590542
9	MAFF	chr1:224590333-224590723	HepG2	liver:	n/a	chr1:224590525-224590543

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224589162..224592475-chr1:224593427..224596642,4	K562	blood:

Variant related genes	Relation type
WDR26	TF binding region
MIR4742	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10495218	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495221	0.91[AFR][1000 genomes]
rs11800357	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804538	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807149	0.81[AFR][1000 genomes]
rs11809688	0.81[AFR][1000 genomes]
rs11809710	0.87[AFR][1000 genomes]
rs1317205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847675	0.84[AFR][1000 genomes]
rs16847784	0.81[AFR][1000 genomes]
rs16847858	0.81[AFR][1000 genomes]
rs16847871	0.81[AFR][1000 genomes]
rs16848356	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16848382	1.00[AMR][1000 genomes]
rs1857042	0.84[AFR][1000 genomes]
rs2211327	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57102803	0.84[AFR][1000 genomes]
rs58243680	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58304668	0.82[AFR][1000 genomes]
rs58649883	0.91[AFR][1000 genomes]
rs59577766	0.86[AFR][1000 genomes]
rs59734390	0.91[AFR][1000 genomes]
rs59804672	0.92[AMR][1000 genomes]
rs60063902	0.89[AFR][1000 genomes]
rs60349703	0.87[AFR][1000 genomes]
rs60627429	0.87[AFR][1000 genomes]
rs61000820	0.81[AFR][1000 genomes]
rs61278437	0.84[AFR][1000 genomes]
rs61590597	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6674133	0.89[AFR][1000 genomes]
rs6681611	0.82[AFR][1000 genomes]
rs6687735	0.92[AMR][1000 genomes]
rs6702649	0.84[AFR][1000 genomes]
rs73121865	0.84[AFR][1000 genomes]
rs73123788	0.87[AFR][1000 genomes]
rs73123791	0.81[AFR][1000 genomes]
rs73125529	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73125540	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73125543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224545800-224605000	Weak transcription	Aorta	Aorta
2	chr1:224547000-224593200	Weak transcription	Stomach Mucosa	stomach
3	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:224556000-224591000	Weak transcription	Small Intestine	intestine
5	chr1:224563000-224593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224571000-224594000	Strong transcription	HMEC	breast
7	chr1:224571200-224599400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:224571800-224593400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:224572000-224594000	Strong transcription	Osteobl	bone
10	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
11	chr1:224572400-224601000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
13	chr1:224572600-224593600	Strong transcription	NHDF-Ad	bronchial
14	chr1:224572600-224593800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:224572600-224594000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:224572800-224594400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:224573200-224593400	Strong transcription	HUVEC	blood vessel
21	chr1:224573200-224594000	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr1:224573200-224594000	Strong transcription	NH-A	brain
23	chr1:224573200-224594600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:224574000-224595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:224574000-224599400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:224574000-224601600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:224574000-224613600	Strong transcription	Adipose Nuclei	Adipose
33	chr1:224574200-224594400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:224574600-224613600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:224575000-224597200	Strong transcription	GM12878-XiMat	blood
36	chr1:224575000-224607600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:224575200-224594800	Strong transcription	Fetal Lung	lung
38	chr1:224575200-224607600	Strong transcription	Fetal Intestine Large	intestine
39	chr1:224575200-224613800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr1:224575200-224616600	Strong transcription	Dnd41	blood
41	chr1:224575200-224616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:224575400-224593400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:224576000-224590600	Strong transcription	Fetal Kidney	kidney
44	chr1:224576000-224595600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr1:224576000-224597200	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr1:224576000-224601200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:224576200-224594000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:224576200-224614000	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:224576400-224614600	Strong transcription	HSMM	muscle
50	chr1:224577000-224617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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