Variant report

Variant	rs11539373
Chromosome Location	chr22:29663751-29663752
allele	C/T
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	MAZ	chr22:29663597-29664859	K562	blood:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
2	MAFK	chr22:29663728-29664375	IMR90	lung:	n/a	chr22:29663903-29663918
3	NFIC	chr22:29663722-29664326	HepG2	liver:	n/a	n/a
4	MXI1	chr22:29663380-29666062	GM12878	blood:	n/a	chr22:29664637-29664646 chr22:29664639-29664648
5	MXI1	chr22:29662695-29667112	IMR90	lung:	n/a	chr22:29664637-29664646 chr22:29664639-29664648
6	MAX	chr22:29663510-29664925	SK-N-SH	brain:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
7	MYC	chr22:29663651-29664048	HepG2	liver:	n/a	n/a
8	USF1	chr22:29663662-29664402	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr22:29663541-29665184	HUVEC	blood vessel:	n/a	n/a
10	E2F6	chr22:29663740-29663987	K562	blood:	n/a	n/a
11	POLR2A	chr22:29662422-29665050	GM12891	blood:	n/a	n/a
12	MYC	chr22:29663537-29665080	K562	blood:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
13	POLR2A	chr22:29663553-29665043	ECC-1	luminal epithelium:	n/a	n/a
14	HA-E2F1	chr22:29663612-29664824	Hela-S3	cervix:	n/a	chr22:29664647-29664657 chr22:29664249-29664258
15	HEY1	chr22:29663523-29663994	K562	blood:	n/a	n/a
16	YY1	chr22:29663566-29665082	GM12892	blood:	n/a	chr22:29664646-29664660 chr22:29664495-29664506 chr22:29664454-29664468 chr22:29664459-29664468 chr22:29665044-29665055
17	NFIC	chr22:29663721-29664360	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:29663553-29664861	K562	blood:	n/a	n/a
19	POLR2A	chr22:29663626-29664069	A549	lung:	n/a	n/a
20	HDAC2	chr22:29663636-29663990	K562	blood:	n/a	n/a
21	CHD1	chr22:29662615-29667443	IMR90	lung:	n/a	chr22:29664609-29664619
22	BHLHE40	chr22:29663665-29664621	K562	blood:	n/a	n/a
23	RELA	chr22:29663720-29664547	GM18951	blood:	n/a	n/a
24	YY1	chr22:29663702-29664737	HCT-116	colon:	n/a	chr22:29664646-29664660 chr22:29664495-29664506 chr22:29664454-29664468 chr22:29664459-29664468
25	JUN	chr22:29663150-29665144	K562	blood:	n/a	n/a
26	POLR2A	chr22:29663531-29664680	GM12878	blood:	n/a	n/a
27	ZNF143	chr22:29663735-29664701	GM12878	blood:	n/a	n/a
28	YY1	chr22:29663663-29664789	SK-N-SH_RA	brain:	n/a	chr22:29664646-29664660 chr22:29664495-29664506 chr22:29664454-29664468 chr22:29664459-29664468
29	RCOR1	chr22:29663748-29664537	Hela-S3	cervix:	n/a	n/a
30	ZBTB7A	chr22:29663494-29664089	K562	blood:	n/a	n/a
31	NFATC1	chr22:29663619-29664509	GM12878	blood:	n/a	n/a
32	CHD1	chr22:29663172-29665884	GM12878	blood:	n/a	chr22:29664609-29664619
33	NR2F2	chr22:29663666-29664337	K562	blood:	n/a	n/a
34	POLR2A	chr22:29663160-29665372	GM15510	blood:	n/a	n/a
35	SP1	chr22:29663629-29664344	GM12878	blood:	n/a	chr22:29664198-29664208 chr22:29664197-29664208 chr22:29664199-29664208 chr22:29664197-29664209 chr22:29664197-29664209
36	MAX	chr22:29663452-29664950	ECC-1	luminal epithelium:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
37	NFIC	chr22:29663672-29664940	GM12878	blood:	n/a	n/a
38	JUND	chr22:29663600-29664712	H1-hESC	embryonic stem cell:	n/a	chr22:29663902-29663913
39	POLR2A	chr22:29663621-29664889	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr22:29663173-29664598	GM12892	blood:	n/a	n/a
41	EP300	chr22:29663736-29664656	H1-hESC	embryonic stem cell:	n/a	n/a
42	MAX	chr22:29663572-29665013	A549	lung:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
43	PML	chr22:29663085-29664869	GM12878	blood:	n/a	n/a
44	GATA3	chr22:29663543-29664683	A549	lung:	n/a	chr22:29663630-29663639 chr22:29664409-29664417
45	BHLHE40	chr22:29663574-29664474	HepG2	liver:	n/a	n/a
46	ELF1	chr22:29663540-29664510	GM12878	blood:	n/a	n/a
47	POLR2A	chr22:29663548-29665410	PFSK-1	brain:	n/a	n/a
48	ZKSCAN1	chr22:29663751-29664453	Hela-S3	cervix:	n/a	n/a
49	MAX	chr22:29663640-29664868	K562	blood:	n/a	chr22:29664640-29664649 chr22:29664638-29664647 chr22:29664638-29664647 chr22:29664637-29664648 chr22:29664638-29664647 chr22:29664638-29664648 chr22:29664643-29664653
50	ELF1	chr22:29663613-29664074	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:29661955..29666922-chr22:29700529..29704114,10	K562	blood:
2	chr22:29196111..29197779-chr22:29662528..29664721,2	MCF-7	breast:
3	chr22:29660929..29666447-chr22:29700529..29705135,9	K562	blood:
4	chr22:29663275..29666008-chr22:29976454..29978804,2	K562	blood:
5	chr22:29194133..29196788-chr22:29662998..29665301,2	MCF-7	breast:
6	chr22:29663358..29665751-chr22:29702504..29704805,4	MCF-7	breast:
7	chr22:29662577..29666963-chr22:29684296..29687849,8	MCF-7	breast:
8	chr22:29137011..29139217-chr22:29662922..29665353,2	MCF-7	breast:

Variant related genes	Relation type
EWSR1	TF binding region
RHBDD3	TF binding region
ENSG00000183765	Chromatin interaction
ENSG00000184117	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000185340	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000182944	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13055676	1.00[ASN][1000 genomes]
rs13056227	1.00[ASN][1000 genomes]
rs13056534	1.00[ASN][1000 genomes]
rs34091309	1.00[ASN][1000 genomes]
rs34583478	1.00[ASN][1000 genomes]
rs34662558	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8136401	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29662000-29663800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr22:29662400-29663800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr22:29662400-29666000	Active TSS	Fetal Kidney	kidney
4	chr22:29662600-29665400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr22:29662600-29665800	Active TSS	Psoas Muscle	Psoas
6	chr22:29662800-29663800	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr22:29662800-29663800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr22:29662800-29663800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:29662800-29663800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr22:29662800-29665200	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr22:29662800-29665200	Active TSS	A549	lung
12	chr22:29662800-29665600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:29662800-29665600	Active TSS	GM12878-XiMat	blood
14	chr22:29662800-29666000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr22:29662800-29666400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:29662800-29666600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr22:29663000-29663800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr22:29663000-29664000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr22:29663000-29664800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr22:29663000-29664800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:29663000-29665400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr22:29663000-29665400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr22:29663000-29665400	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr22:29663000-29665600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:29663000-29665800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr22:29663000-29666000	Active TSS	H9 Cell Line	embryonic stem cell
27	chr22:29663000-29666000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:29663000-29666200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:29663000-29666400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:29663200-29663800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr22:29663200-29663800	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr22:29663200-29663800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr22:29663200-29664200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:29663200-29665000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr22:29663200-29665000	Active TSS	NHEK	skin
36	chr22:29663200-29665200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr22:29663200-29665200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr22:29663200-29665200	Active TSS	K562	blood
39	chr22:29663200-29665200	Active TSS	NHDF-Ad	bronchial
40	chr22:29663200-29665400	Active TSS	Muscle Satellite Cultured Cells	--
41	chr22:29663200-29665400	Active TSS	Hela-S3	cervix
42	chr22:29663200-29665400	Bivalent/Poised TSS	HepG2	liver
43	chr22:29663200-29665800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29663200-29665800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:29663200-29665800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr22:29663200-29666000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:29663200-29666000	Active TSS	Small Intestine	intestine
48	chr22:29663200-29666000	Active TSS	HSMMtube	muscle
49	chr22:29663200-29666800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr22:29663200-29667000	Active TSS	Ovary	ovary

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