Variant report

Variant	rs9621053
Chromosome Location	chr22:31031133-31031134
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	JUND	chr22:31030419-31031210	H1-hESC	embryonic stem cell:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
2	RCOR1	chr22:31030391-31031594	GM12878	blood:	n/a	n/a
3	RAD21	chr22:31030159-31033009	SK-N-SH	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31032159-31032171 chr22:31031145-31031157 chr22:31031995-31032005 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
4	NRF1	chr22:31031127-31032043	SK-N-SH	brain:	n/a	chr22:31031731-31031740
5	CTCF	chr22:31031059-31031194	GM12892	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
6	POLR2A	chr22:31030389-31032098	HUVEC	blood vessel:	n/a	n/a
7	JUND	chr22:31030410-31031182	K562	blood:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031016-31031024
8	CTCF	chr22:31031120-31031270	GM12875	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
9	POLR2A	chr22:31030221-31032151	U87	brain:	n/a	n/a
10	ZBTB7A	chr22:31031001-31031383	K562	blood:	n/a	chr22:31031147-31031156
11	POLR2A	chr22:31030277-31032167	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr22:31030494-31031981	GM19193	blood:	n/a	n/a
13	POLR2A	chr22:31030291-31032145	U87	brain:	n/a	n/a
14	ZBTB7A	chr22:31031075-31031217	HepG2	liver:	n/a	chr22:31031147-31031156
15	CTCF	chr22:31031020-31031170	HCPEpiC	choroid plexus:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
16	IRF4	chr22:31030478-31031187	GM12878	blood:	n/a	n/a
17	RELA	chr22:31030386-31031564	GM19099	blood:	n/a	n/a
18	PBX3	chr22:31030334-31031909	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr22:31031100-31031250	GM12867	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
20	CTCF	chr22:31031100-31031186	Gliobla	brain:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
21	RELA	chr22:31030525-31031994	GM15510	blood:	n/a	n/a
22	MAX	chr22:31030347-31031210	SK-N-SH	brain:	n/a	chr22:31030747-31030757 chr22:31030749-31030758
23	CTCF	chr22:31031047-31031254	GM19238	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
24	CTCF	chr22:31031062-31031236	H1-hESC	embryonic stem cell:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
25	CTCF	chr22:31031120-31031270	SK-N-SH_RA	brain:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
26	EBF1	chr22:31030471-31031677	GM12878	blood:	n/a	chr22:31031032-31031043 chr22:31031141-31031151
27	CTCF	chr22:31031055-31031242	GM12891	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
28	RAD21	chr22:31031059-31031198	SK-N-SH_RA	brain:	n/a	chr22:31031143-31031156 chr22:31031145-31031157 chr22:31031145-31031155
29	SMC3	chr22:31030099-31032972	SK-N-SH	brain:	n/a	chr22:31032378-31032385 chr22:31031145-31031155 chr22:31031446-31031460 chr22:31031446-31031456 chr22:31030568-31030575 chr22:31030568-31030582 chr22:31032408-31032418
30	SMC3	chr22:31031105-31031546	GM12878	blood:	n/a	chr22:31031145-31031155 chr22:31031446-31031460 chr22:31031446-31031456
31	EP300	chr22:31030282-31032076	SK-N-SH	brain:	n/a	chr22:31031148-31031157 chr22:31031731-31031740
32	POLR2A	chr22:31030646-31031917	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr22:31031096-31031232	GM19240	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
34	MAZ	chr22:31030211-31032738	IMR90	lung:	n/a	chr22:31031998-31032008 chr22:31030749-31030758
35	ELF1	chr22:31030863-31031239	K562	blood:	n/a	chr22:31031088-31031101
36	BATF	chr22:31030413-31031139	GM12878	blood:	n/a	chr22:31031013-31031023
37	RUNX3	chr22:31030348-31031944	GM12878	blood:	n/a	n/a
38	CTCF	chr22:31030920-31031301	H1-hESC	embryonic stem cell:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
39	CTCF	chr22:31031000-31031150	GM12864	blood:	n/a	n/a
40	MAZ	chr22:31030421-31031917	GM12878	blood:	n/a	chr22:31030749-31030758
41	CTCFL	chr22:31031078-31031253	K562	blood:	n/a	chr22:31031146-31031155
42	CTCF	chr22:31031120-31031270	HRPEpiC	eye:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
43	RAD21	chr22:31030280-31031603	SK-N-SH_RA	brain:	n/a	chr22:31030567-31030586 chr22:31031143-31031156 chr22:31030572-31030584 chr22:31031145-31031157 chr22:31031446-31031456 chr22:31031511-31031524 chr22:31030571-31030580 chr22:31031145-31031155 chr22:31030568-31030582
44	CTCF	chr22:31031100-31031250	HRPEpiC	eye:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
45	CTCF	chr22:31031040-31031190	HCPEpiC	choroid plexus:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
46	CTCF	chr22:31031000-31031150	GM12872	blood:	n/a	n/a
47	CTCF	chr22:31031080-31031230	GM12864	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
48	CTCF	chr22:31031100-31031250	HBMEC	blood vessel:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
49	CTCF	chr22:31031060-31031210	K562	blood:	n/a	chr22:31031144-31031154 chr22:31031139-31031157
50	FOS	chr22:31030490-31031473	HUVEC	blood vessel:	n/a	chr22:31031015-31031025 chr22:31031014-31031026 chr22:31031015-31031025 chr22:31031014-31031025 chr22:31031016-31031024

No.	Distal block	Cell Line	Cell type
1	chr22:31030552..31033273-chr22:31061698..31065017,4	MCF-7	breast:
2	chr22:31030338..31033016-chr22:31062140..31065480,4	MCF-7	breast:
3	chr22:31030117..31031164-chr22:31286279..31286856,3	MCF-7	breast:

Variant related genes	Relation type
SLC35E4	TF binding region
ENSG00000167065	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12169435	0.92[EUR][1000 genomes]
rs55866375	0.92[EUR][1000 genomes]
rs56217309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60815431	0.92[EUR][1000 genomes]
rs67153574	1.00[EUR][1000 genomes]
rs7289904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73170819	1.00[EUR][1000 genomes]
rs8136373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138797	0.93[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9619126	0.92[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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 target site	15 gene(s)	inside rSNPs	diseases
4	nsv829172	chr22:31024057-31032291	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3374115	chr22:31030477-31033325	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31025200-31031200	Weak transcription	Right Atrium	heart
3	chr22:31030200-31031400	Enhancers	Dnd41	blood
4	chr22:31030400-31031200	Enhancers	Fetal Muscle Leg	muscle
5	chr22:31030400-31031200	Enhancers	Stomach Mucosa	stomach
6	chr22:31030400-31031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr22:31030400-31031800	Enhancers	Liver	Liver
8	chr22:31030600-31031200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:31030600-31031200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:31030600-31031200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:31030600-31031200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:31030600-31031200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:31030600-31031200	Enhancers	Fetal Intestine Large	intestine
14	chr22:31030600-31031200	Enhancers	Fetal Lung	lung
15	chr22:31030600-31031200	Enhancers	Left Ventricle	heart
16	chr22:31030600-31031200	Enhancers	Pancreas	Pancrea
17	chr22:31030600-31031200	Flanking Active TSS	Thymus	Thymus
18	chr22:31030600-31031200	Enhancers	Spleen	Spleen
19	chr22:31030600-31031200	Enhancers	HMEC	breast
20	chr22:31030600-31031200	Enhancers	K562	blood
21	chr22:31030600-31031400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr22:31030600-31031400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:31030600-31031400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:31030600-31031400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr22:31030600-31031400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr22:31030600-31031400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:31030600-31031400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:31030600-31031400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr22:31030600-31031400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr22:31030600-31031400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr22:31030600-31031400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:31030600-31031400	Flanking Active TSS	Brain Substantia Nigra	brain
33	chr22:31030600-31031400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr22:31030600-31031400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:31030600-31031400	Flanking Active TSS	GM12878-XiMat	blood
36	chr22:31030600-31031400	Flanking Active TSS	HUVEC	blood vessel
37	chr22:31030600-31031600	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr22:31030600-31031600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr22:31030600-31031600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:31030600-31031600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:31030600-31031600	Enhancers	HSMMtube	muscle
42	chr22:31030600-31031600	Flanking Active TSS	NHEK	skin
43	chr22:31030600-31031800	Enhancers	Primary hematopoietic stem cells	blood
44	chr22:31030600-31031800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr22:31030600-31032000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr22:31030600-31032000	Enhancers	Fetal Brain Male	brain
47	chr22:31030600-31032200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr22:31030600-31032400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr22:31030600-31032800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr22:31030600-31032800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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