Variant report

Variant	rs73403058
Chromosome Location	chr22:29765624-29765625
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	MYC	chr22:29765435-29765772	NB4	blood:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
2	HDAC2	chr22:29765398-29765761	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr22:29765427-29765877	A549	lung:	n/a	n/a
4	JUND	chr22:29765484-29765646	H1-hESC	embryonic stem cell:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585 chr22:29765576-29765587
5	CEBPB	chr22:29765380-29765923	K562	blood:	n/a	n/a
6	FOSL2	chr22:29765371-29765780	HepG2	liver:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585
7	FOS	chr22:29765393-29765756	MCF10A-Er-Src	breast:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765576-29765587 chr22:29765574-29765585
8	MYC	chr22:29765485-29765761	MCF10A-Er-Src	breast:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
9	FOS	chr22:29765394-29765761	MCF10A-Er-Src	breast:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765576-29765587 chr22:29765574-29765585
10	MAX	chr22:29765438-29765655	K562	blood:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
11	CEBPB	chr22:29765315-29765680	ECC-1	luminal epithelium:	n/a	n/a
12	ZNF263	chr22:29765368-29765769	HEK293-T-REx	kidney:	n/a	n/a
13	JUND	chr22:29765425-29765650	HepG2	liver:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585 chr22:29765576-29765587
14	CEBPB	chr22:29765292-29765790	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr22:29765343-29765905	U87	brain:	n/a	n/a
16	CEBPB	chr22:29765357-29765938	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr22:29765407-29765771	K562	blood:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585 chr22:29765576-29765587
18	CEBPB	chr22:29765398-29765925	HepG2	liver:	n/a	n/a
19	CEBPB	chr22:29765399-29765731	K562	blood:	n/a	n/a
20	JUN	chr22:29765370-29765792	K562	blood:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585
21	JUND	chr22:29765394-29765819	H1-hESC	embryonic stem cell:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585 chr22:29765576-29765587
22	RAD21	chr22:29765545-29765673	IMR90	lung:	n/a	n/a
23	ATF2	chr22:29765407-29765735	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr22:29765395-29765754	NB4	blood:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
25	JUND	chr22:29765492-29765711	HepG2	liver:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765574-29765585 chr22:29765576-29765587
26	FOS	chr22:29765397-29765761	MCF10A-Er-Src	breast:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765576-29765587 chr22:29765574-29765585
27	MYC	chr22:29765420-29765920	H1-hESC	embryonic stem cell:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
28	FOS	chr22:29765439-29765745	HUVEC	blood vessel:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765576-29765587 chr22:29765574-29765585
29	POLR2A	chr22:29765609-29765662	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr22:29765351-29765917	IMR90	lung:	n/a	n/a
31	FOS	chr22:29765392-29765762	MCF10A-Er-Src	breast:	n/a	chr22:29765578-29765586 chr22:29765579-29765586 chr22:29765576-29765583 chr22:29765576-29765587 chr22:29765574-29765585
32	MAX	chr22:29765435-29765802	H1-hESC	embryonic stem cell:	n/a	chr22:29765577-29765586 chr22:29765578-29765587
33	BACH1	chr22:29765433-29765705	H1-hESC	embryonic stem cell:	n/a	chr22:29765575-29765589
34	MAX	chr22:29765503-29765695	H1-hESC	embryonic stem cell:	n/a	chr22:29765577-29765586 chr22:29765578-29765587

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29760830..29763484-chr22:29765100..29766942,2	K562	blood:

Variant related genes	Relation type
AP1B1	TF binding region
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58759678	0.83[AFR][1000 genomes]
rs60160467	0.83[AFR][1000 genomes]
rs60770384	0.91[AFR][1000 genomes]
rs61289219	1.00[AMR][1000 genomes]
rs73401101	0.83[AFR][1000 genomes]
rs73403003	0.83[AFR][1000 genomes]
rs73403025	0.91[AFR][1000 genomes]
rs73403028	0.91[AFR][1000 genomes]
rs73403032	0.91[AFR][1000 genomes]
rs73403038	0.91[AFR][1000 genomes]
rs73403039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73403080	1.00[AMR][1000 genomes]
rs73407035	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29741000-29782800	Weak transcription	Hela-S3	cervix
2	chr22:29750600-29766800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:29753000-29777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr22:29754600-29770400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr22:29755000-29772200	Weak transcription	Aorta	Aorta
6	chr22:29755000-29783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:29755200-29773800	Weak transcription	Stomach Mucosa	stomach
8	chr22:29755200-29781000	Weak transcription	Fetal Brain Male	brain
9	chr22:29755200-29782800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29755400-29783600	Weak transcription	Fetal Kidney	kidney
11	chr22:29755600-29771400	Weak transcription	Psoas Muscle	Psoas
12	chr22:29755600-29778600	Weak transcription	Fetal Lung	lung
13	chr22:29755800-29776600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:29756000-29766400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr22:29756000-29766400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr22:29756000-29766600	Weak transcription	Pancreas	Pancrea
17	chr22:29756000-29769000	Weak transcription	Gastric	stomach
18	chr22:29756000-29771400	Weak transcription	Esophagus	oesophagus
19	chr22:29756000-29771400	Weak transcription	HMEC	breast
20	chr22:29756000-29771800	Weak transcription	NHLF	lung
21	chr22:29756000-29772200	Weak transcription	Right Atrium	heart
22	chr22:29756000-29776200	Weak transcription	Small Intestine	intestine
23	chr22:29756000-29779800	Weak transcription	Brain Germinal Matrix	brain
24	chr22:29756000-29783600	Weak transcription	Right Ventricle	heart
25	chr22:29756000-29783800	Weak transcription	Ovary	ovary
26	chr22:29756200-29779200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr22:29756400-29770400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:29756400-29772200	Weak transcription	Fetal Heart	heart
29	chr22:29756400-29782600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:29758200-29771800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:29758200-29777000	Weak transcription	Colonic Mucosa	Colon
32	chr22:29759400-29767600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:29761200-29766600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:29761600-29768600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr22:29762600-29766600	Weak transcription	Liver	Liver
36	chr22:29762600-29771400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr22:29762800-29766600	Weak transcription	Lung	lung
38	chr22:29762800-29766600	Weak transcription	Spleen	Spleen
39	chr22:29762800-29767000	Weak transcription	Left Ventricle	heart
40	chr22:29762800-29768400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr22:29762800-29770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:29762800-29771800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr22:29762800-29777200	Weak transcription	Fetal Brain Female	brain
44	chr22:29763000-29766400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:29763000-29766400	Weak transcription	Dnd41	blood
46	chr22:29763000-29766600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr22:29763000-29766600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr22:29763200-29766800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:29763600-29767000	Enhancers	Brain Hippocampus Middle	brain
50	chr22:29763800-29766200	Enhancers	Brain Cingulate Gyrus	brain

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