Variant report

Variant	rs74149626
Chromosome Location	chr1:224805549-224805550
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	MAX	chr1:224804476-224805789	H1-hESC	embryonic stem cell:	n/a	chr1:224805041-224805050
2	CTCF	chr1:224805520-224805670	HBMEC	blood vessel:	n/a	chr1:224805658-224805666
3	CTCF	chr1:224805500-224805650	HFF-Myc	foreskin:	n/a	n/a
4	CTCF	chr1:224805540-224805690	SK-N-SH_RA	brain:	n/a	chr1:224805658-224805666
5	E2F6	chr1:224803117-224805791	H1-hESC	embryonic stem cell:	n/a	chr1:224803938-224803952 chr1:224803665-224803675 chr1:224804409-224804424 chr1:224805253-224805265
6	SUZ12	chr1:224804113-224806096	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTBP2	chr1:224803557-224806095	H1-hESC	embryonic stem cell:	n/a	n/a
8	SUZ12	chr1:224803428-224806408	NT2-D1	testis:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224805248..224807412-chr1:224827891..224830752,2	K562	blood:
2	chr1:224760255..224762194-chr1:224803067..224805853,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233384	TF binding region
ENSG00000229991	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55730825	1.00[AMR][1000 genomes]
rs56034385	1.00[AMR][1000 genomes]
rs56331910	0.86[AFR][1000 genomes]
rs56803202	0.86[AFR][1000 genomes]
rs56825738	1.00[AMR][1000 genomes]
rs56912045	1.00[AMR][1000 genomes]
rs57321094	1.00[AMR][1000 genomes]
rs57845819	1.00[AMR][1000 genomes]
rs57931386	1.00[AMR][1000 genomes]
rs58482551	1.00[AMR][1000 genomes]
rs58565730	1.00[AMR][1000 genomes]
rs59931444	1.00[AMR][1000 genomes]
rs60418054	1.00[AMR][1000 genomes]
rs60681998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60737124	1.00[AMR][1000 genomes]
rs61556319	1.00[AMR][1000 genomes]
rs6680134	0.86[AFR][1000 genomes]
rs74146204	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146215	0.86[AFR][1000 genomes]
rs74146216	0.84[AFR][1000 genomes]
rs74146220	0.86[AFR][1000 genomes]
rs74146393	1.00[AMR][1000 genomes]
rs74146397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74146399	1.00[AMR][1000 genomes]
rs74146400	1.00[AMR][1000 genomes]
rs74149624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs873829	1.00[AMR][1000 genomes]
rs873830	1.00[AMR][1000 genomes]
rs873831	1.00[AMR][1000 genomes]
rs873832	0.91[AFR][1000 genomes];1.00[AMR][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	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
2	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224803200-224805800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr1:224803200-224805800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:224803200-224806400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:224803200-224806400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr1:224803200-224807000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:224803200-224807000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:224803200-224807200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:224803200-224807400	Active TSS	NHDF-Ad	bronchial
9	chr1:224803400-224805800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:224803400-224805800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:224803400-224806800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr1:224803600-224805600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr1:224803600-224805800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:224803600-224805800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:224803600-224806200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr1:224803600-224806400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:224803800-224805800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:224803800-224806200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:224803800-224806200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:224803800-224807800	Active TSS	NH-A	brain
21	chr1:224804200-224805600	Bivalent Enhancer	Liver	Liver
22	chr1:224804200-224806000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:224804200-224806200	Bivalent/Poised TSS	Fetal Kidney	kidney
24	chr1:224804400-224805800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224804400-224806000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr1:224804400-224806000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:224804400-224806400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:224804600-224805800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:224804600-224805800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:224804600-224805800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:224804600-224806600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr1:224804800-224805600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:224804800-224805600	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr1:224804800-224805600	Active TSS	NHLF	lung
35	chr1:224804800-224805800	Flanking Active TSS	Pancreas	Pancrea
36	chr1:224804800-224805800	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr1:224804800-224806000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:224804800-224806000	Bivalent Enhancer	Esophagus	oesophagus
39	chr1:224804800-224806200	Bivalent Enhancer	Fetal Thymus	thymus
40	chr1:224804800-224807000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
41	chr1:224805000-224805600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr1:224805000-224805600	Bivalent Enhancer	Fetal Brain Male	brain
43	chr1:224805000-224805600	Bivalent Enhancer	Fetal Stomach	stomach
44	chr1:224805000-224805800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:224805000-224806000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:224805000-224806000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr1:224805000-224806000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
48	chr1:224805000-224806000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
49	chr1:224805000-224806200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr1:224805000-224806400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood

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