Variant report

Variant	rs73124844
Chromosome Location	chr1:222828236-222828237
allele	A/G
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	CTCF	chr1:222828220-222828370	AG09319	gingival:	n/a	n/a
2	ATF2	chr1:222828166-222828795	GM12878	blood:	n/a	n/a
3	EP300	chr1:222828234-222828595	GM12878	blood:	n/a	chr1:222828444-222828458
4	RUNX3	chr1:222828179-222828695	GM12878	blood:	n/a	n/a
5	MTA3	chr1:222828125-222828679	GM12878	blood:	n/a	n/a
6	IRF4	chr1:222828213-222828571	GM12878	blood:	n/a	n/a
7	MYC	chr1:222827715-222828599	NB4	blood:	n/a	n/a
8	CREB1	chr1:222828112-222828729	GM12878	blood:	n/a	n/a
9	RUNX3	chr1:222828083-222828998	GM12878	blood:	n/a	n/a
10	POU2F2	chr1:222828227-222828626	GM12878	blood:	n/a	chr1:222828380-222828392
11	MAX	chr1:222828232-222828577	GM12878	blood:	n/a	n/a
12	IKZF1	chr1:222828224-222828639	GM12878	blood:	n/a	n/a
13	IRF4	chr1:222828163-222828626	GM12878	blood:	n/a	n/a
14	CTCF	chr1:222828200-222828350	GM12878	blood:	n/a	n/a
15	STAT5A	chr1:222828153-222828637	GM12878	blood:	n/a	chr1:222828442-222828453 chr1:222828448-222828459
16	MXI1	chr1:222828189-222828593	GM12878	blood:	n/a	n/a
17	ATF2	chr1:222828110-222828820	GM12878	blood:	n/a	n/a
18	NFIC	chr1:222828079-222828988	GM12878	blood:	n/a	n/a
19	PML	chr1:222828036-222829051	GM12878	blood:	n/a	n/a
20	BCLAF1	chr1:222828180-222828681	GM12878	blood:	n/a	chr1:222828444-222828453
21	POLR2A	chr1:222828140-222828660	HL-60	blood:	n/a	n/a
22	NFATC1	chr1:222828164-222828678	GM12878	blood:	n/a	n/a
23	NFIC	chr1:222828146-222828726	GM12878	blood:	n/a	n/a
24	FOXM1	chr1:222828112-222828887	GM12878	blood:	n/a	n/a
25	BCLAF1	chr1:222828214-222828579	GM12878	blood:	n/a	chr1:222828444-222828453
26	STAT5A	chr1:222828173-222828647	GM12878	blood:	n/a	chr1:222828442-222828453 chr1:222828448-222828459
27	MEF2A	chr1:222828200-222828649	GM12878	blood:	n/a	n/a
28	EP300	chr1:222828202-222828627	GM12878	blood:	n/a	chr1:222828444-222828458
29	CTCF	chr1:222828220-222828370	GM12867	blood:	n/a	n/a
30	CTCF	chr1:222828200-222828350	HVMF	connective:	n/a	n/a
31	CTCF	chr1:222828180-222828330	GM12870	blood:	n/a	n/a
32	PAX5	chr1:222828234-222828546	GM12878	blood:	n/a	chr1:222828444-222828453 chr1:222828336-222828346
33	SP1	chr1:222828187-222828614	GM12878	blood:	n/a	n/a
34	NFATC1	chr1:222828169-222828712	GM12878	blood:	n/a	n/a
35	SMC3	chr1:222828187-222828527	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr1:222828215-222828612	GM12878	blood:	n/a	n/a
37	BHLHE40	chr1:222828196-222828732	GM12878	blood:	n/a	n/a
38	MTA3	chr1:222828147-222828703	GM12878	blood:	n/a	n/a
39	MEF2A	chr1:222828155-222828642	GM12878	blood:	n/a	n/a
40	CEBPB	chr1:222828122-222828827	GM12878	blood:	n/a	n/a
41	ZNF143	chr1:222828208-222828574	GM12878	blood:	n/a	chr1:222828497-222828506
42	CTCF	chr1:222828200-222828350	NHLF	lung:	n/a	n/a
43	CTCF	chr1:222828179-222828578	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:222814486..222818749-chr1:222824063..222828409,6	K562	blood:
2	chr1:222816190..222823911-chr1:222823944..222830315,13	K562	blood:
3	chr1:222819931..222824130-chr1:222824543..222830259,6	MCF-7	breast:
4	chr1:222821221..222823046-chr1:222828196..222830155,2	K562	blood:
5	chr1:222826589..222829229-chr1:222873150..222875151,2	K562	blood:

Variant related genes	Relation type
MIA3	TF binding region
ENSG00000154305	Chromatin interaction
ENSG00000229399	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs73124819	1.00[AFR][1000 genomes]
rs73124830	1.00[AFR][1000 genomes]
rs73124833	0.93[AFR][1000 genomes]
rs73124835	0.93[AFR][1000 genomes]
rs73124836	1.00[AFR][1000 genomes]
rs73124838	1.00[AFR][1000 genomes]
rs73124845	1.00[AFR][1000 genomes]
rs73124852	0.93[AFR][1000 genomes]
rs73124859	1.00[AFR][1000 genomes]
rs73124860	1.00[AFR][1000 genomes]
rs73126809	0.81[AFR][1000 genomes]
rs73126827	0.87[AFR][1000 genomes]
rs73126831	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222818400-222833600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:222818800-222841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:222819000-222841800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:222819200-222841400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:222819200-222841600	Strong transcription	Placenta	Placenta
6	chr1:222819400-222841200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:222820000-222838800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:222820000-222841400	Strong transcription	HSMM	muscle
9	chr1:222820000-222841600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:222820200-222838800	Strong transcription	NHDF-Ad	bronchial
11	chr1:222820200-222841400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:222820200-222841400	Strong transcription	NH-A	brain
13	chr1:222820400-222841800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:222820600-222841200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:222820600-222841400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr1:222820800-222841000	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:222820800-222841200	Strong transcription	Fetal Intestine Large	intestine
18	chr1:222821000-222840000	Strong transcription	Fetal Kidney	kidney
19	chr1:222821200-222841400	Strong transcription	Adipose Nuclei	Adipose
20	chr1:222821400-222840000	Strong transcription	Fetal Brain Female	brain
21	chr1:222822200-222829400	Strong transcription	Thymus	Thymus
22	chr1:222822200-222838800	Strong transcription	Colon Smooth Muscle	Colon
23	chr1:222822200-222841200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:222822200-222841400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:222822400-222841200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:222822400-222841400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:222822600-222840000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr1:222822600-222841400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:222822600-222841400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:222822800-222840800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr1:222823000-222829200	Strong transcription	HSMMtube	muscle
32	chr1:222823000-222829400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr1:222823000-222830000	Strong transcription	NHEK	skin
34	chr1:222823000-222838400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:222823000-222839200	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:222823000-222841200	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:222823000-222841400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:222823200-222828600	Strong transcription	Brain Angular Gyrus	brain
39	chr1:222823200-222828600	Strong transcription	Brain Germinal Matrix	brain
40	chr1:222823200-222840000	Strong transcription	Brain Substantia Nigra	brain
41	chr1:222823200-222840600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:222823200-222841400	Strong transcription	HepG2	liver
43	chr1:222823200-222841400	Strong transcription	K562	blood
44	chr1:222823400-222831400	Weak transcription	Colonic Mucosa	Colon
45	chr1:222823400-222841400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:222823800-222829200	Strong transcription	HMEC	breast
47	chr1:222824000-222839600	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:222824000-222841400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:222824000-222841400	Strong transcription	A549	lung
50	chr1:222824200-222839800	Strong transcription	Fetal Lung	lung

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