Variant report

Variant	rs557738408
Chromosome Location	chr22:31031452-31031453
allele	C/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	RCOR1	chr22:31030391-31031594	GM12878	blood:	n/a	n/a
2	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
3	NRF1	chr22:31031127-31032043	SK-N-SH	brain:	n/a	chr22:31031731-31031740
4	CTCF	chr22:31031380-31031530	AG10803	skin:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
5	TEAD4	chr22:31031323-31031975	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr22:31030389-31032098	HUVEC	blood vessel:	n/a	n/a
7	CTCF	chr22:31031320-31031470	HVMF	connective:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
8	FOXP2	chr22:31031385-31032003	PFSK-1	brain:	n/a	n/a
9	CTCF	chr22:31031346-31031573	GM19239	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
10	SRF	chr22:31031447-31031903	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr22:31031300-31031523	K562	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
12	CTCF	chr22:31031360-31031510	HPAF	blood vessel:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
13	CTCF	chr22:31031301-31031573	SK-N-SH_RA	brain:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
14	POLR2A	chr22:31030221-31032151	U87	brain:	n/a	n/a
15	CTCF	chr22:31031380-31031530	GM12868	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
16	CTCF	chr22:31031420-31031570	GM12864	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
17	CTCF	chr22:31031394-31031578	GM12892	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
18	REST	chr22:31031354-31031599	SK-N-SH	brain:	n/a	chr22:31031411-31031431 chr22:31031414-31031427
19	CTCF	chr22:31031380-31031530	HEK293	kidney:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
20	POLR2A	chr22:31030277-31032167	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr22:31030494-31031981	GM19193	blood:	n/a	n/a
22	CTCF	chr22:31031447-31031532	GM20000	blood:	n/a	chr22:31031450-31031459
23	CTCF	chr22:31031420-31031570	GM12867	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
24	POLR2A	chr22:31030291-31032145	U87	brain:	n/a	n/a
25	CTCFL	chr22:31031404-31031555	K562	blood:	n/a	n/a
26	POLR2A	chr22:31031335-31032075	Gliobla	brain:	n/a	n/a
27	TAF1	chr22:31031339-31031954	SK-N-SH	brain:	n/a	n/a
28	MAX	chr22:31031258-31032030	A549	lung:	n/a	chr22:31031998-31032008
29	EGR1	chr22:31031447-31031965	ECC-1	luminal epithelium:	n/a	chr22:31031611-31031625 chr22:31031730-31031740
30	CTCF	chr22:31031400-31031550	GM12871	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
31	TCF3	chr22:31031323-31031592	GM12878	blood:	n/a	n/a
32	RELA	chr22:31030386-31031564	GM19099	blood:	n/a	n/a
33	PBX3	chr22:31030334-31031909	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr22:31031351-31031982	H1-neurons	neurons:	n/a	n/a
35	CTCF	chr22:31031421-31031502	Kidney_OC	kidney:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
36	CTCF	chr22:31031232-31031649	K562	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
37	CTCF	chr22:31031340-31031490	HMF	breast:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
38	CTCF	chr22:31031440-31031590	GM12870	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
39	CTCF	chr22:31031340-31031490	GM12873	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
40	CTCF	chr22:31031440-31031590	HAc	cerebellar:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
41	CTCF	chr22:31031417-31031501	A549	lung:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
42	CTCF	chr22:31031380-31031530	GM12869	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
43	RELA	chr22:31030525-31031994	GM15510	blood:	n/a	n/a
44	CTCF	chr22:31031360-31031510	AoAF	blood vessel:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
45	CTCF	chr22:31031400-31031550	HRPEpiC	eye:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
46	CTCF	chr22:31031340-31031490	WERI-Rb-1	eye:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459
47	POLR2A	chr22:31031331-31031485	SK-N-SH	brain:	n/a	n/a
48	PML	chr22:31031236-31031859	GM12878	blood:	n/a	n/a
49	EBF1	chr22:31030471-31031677	GM12878	blood:	n/a	chr22:31031032-31031043 chr22:31031141-31031151
50	CTCF	chr22:31031377-31031542	GM19240	blood:	n/a	chr22:31031444-31031462 chr22:31031446-31031459 chr22:31031450-31031459

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

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31030400-31031600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31030400-31031800	Enhancers	Liver	Liver
3	chr22:31030600-31031600	Flanking Active TSS	Primary B cells from peripheral blood	blood
4	chr22:31030600-31031600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr22:31030600-31031600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:31030600-31031600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:31030600-31031600	Enhancers	HSMMtube	muscle
8	chr22:31030600-31031600	Flanking Active TSS	NHEK	skin
9	chr22:31030600-31031800	Enhancers	Primary hematopoietic stem cells	blood
10	chr22:31030600-31031800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr22:31030600-31032000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr22:31030600-31032000	Enhancers	Fetal Brain Male	brain
13	chr22:31030600-31032200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr22:31030600-31032400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr22:31030600-31032800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:31030600-31032800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr22:31030600-31032800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:31030600-31033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:31030600-31033200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr22:31030600-31033200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31030600-31033400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31030600-31033400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr22:31030600-31033400	Flanking Active TSS	Colonic Mucosa	Colon
24	chr22:31030600-31033400	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr22:31030600-31034000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr22:31030600-31034200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr22:31030600-31034200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr22:31030600-31034400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr22:31030800-31031600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr22:31030800-31031600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:31030800-31031600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr22:31030800-31031600	Flanking Active TSS	Fetal Thymus	thymus
33	chr22:31030800-31031600	Enhancers	Lung	lung
34	chr22:31030800-31031600	Flanking Active TSS	HSMM	muscle
35	chr22:31030800-31032200	Active TSS	Fetal Kidney	kidney
36	chr22:31030800-31032400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr22:31030800-31032400	Active TSS	Brain Angular Gyrus	brain
38	chr22:31030800-31032400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr22:31030800-31032600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr22:31030800-31032600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr22:31030800-31032600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr22:31030800-31032800	Flanking Active TSS	Brain Germinal Matrix	brain
43	chr22:31030800-31033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr22:31030800-31033400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:31030800-31033400	Active TSS	Psoas Muscle	Psoas
46	chr22:31030800-31033600	Active TSS	Brain Anterior Caudate	brain
47	chr22:31031000-31031600	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr22:31031000-31031600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr22:31031000-31031600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr22:31031000-31031600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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