Variant report

Variant	rs7289904
Chromosome Location	chr22:31032329-31032330
allele	A/C
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	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
2	EBF1	chr22:31032173-31032983	GM12878	blood:	n/a	n/a
3	ZNF263	chr22:31031725-31032663	HEK293-T-REx	kidney:	n/a	n/a
4	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
5	MAZ	chr22:31030211-31032738	IMR90	lung:	n/a	chr22:31031998-31032008 chr22:31030749-31030758
6	POLR2A	chr22:31032305-31032701	U87	brain:	n/a	n/a
7	ZBTB7A	chr22:31030445-31032368	ECC-1	luminal epithelium:	n/a	chr22:31031147-31031156
8	RCOR1	chr22:31030177-31032959	IMR90	lung:	n/a	n/a
9	CTCF	chr22:31032260-31032410	AG04449	skin:	n/a	n/a
10	ZBTB7A	chr22:31030896-31032346	ECC-1	luminal epithelium:	n/a	chr22:31031147-31031156
11	MAX	chr22:31032233-31033046	Hela-S3	cervix:	n/a	n/a
12	MAX	chr22:31032254-31032877	SK-N-SH	brain:	n/a	n/a
13	SIN3AK20	chr22:31032315-31032852	PANC-1	pancreas:	n/a	n/a
14	CHD1	chr22:31030212-31033049	IMR90	lung:	n/a	n/a

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: 14 )
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	0.98[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]
rs73170819	1.00[EUR][1000 genomes]
rs8136373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138797	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9619126	0.92[EUR][1000 genomes]
rs9621053	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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	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	chr22:31030600-31032400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr22:31030600-31032800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:31030600-31032800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr22:31030600-31032800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:31030600-31033000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr22:31030600-31033200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr22:31030600-31033200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31030600-31033400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr22:31030600-31033400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr22:31030600-31033400	Flanking Active TSS	Colonic Mucosa	Colon
11	chr22:31030600-31033400	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr22:31030600-31034000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr22:31030600-31034200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr22:31030600-31034200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr22:31030600-31034400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr22:31030800-31032400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr22:31030800-31032400	Active TSS	Brain Angular Gyrus	brain
18	chr22:31030800-31032400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr22:31030800-31032600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr22:31030800-31032600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr22:31030800-31032600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:31030800-31032800	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr22:31030800-31033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr22:31030800-31033400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:31030800-31033400	Active TSS	Psoas Muscle	Psoas
26	chr22:31030800-31033600	Active TSS	Brain Anterior Caudate	brain
27	chr22:31031000-31032800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:31031000-31033400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:31031000-31033600	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr22:31031200-31032400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:31031200-31032600	Active TSS	Aorta	Aorta
32	chr22:31031200-31033000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:31031200-31033000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr22:31031200-31033600	Flanking Active TSS	HMEC	breast
35	chr22:31031400-31032400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr22:31031400-31032600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:31031400-31032800	Active TSS	Colon Smooth Muscle	Colon
38	chr22:31031400-31032800	Flanking Active TSS	Dnd41	blood
39	chr22:31031400-31033000	Active TSS	Brain Substantia Nigra	brain
40	chr22:31031400-31033200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr22:31031400-31033600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:31031400-31033600	Active TSS	NHDF-Ad	bronchial
43	chr22:31031600-31033600	Active TSS	Hela-S3	cervix
44	chr22:31031600-31033600	Active TSS	HSMMtube	muscle
45	chr22:31031600-31034200	Active TSS	HSMM	muscle
46	chr22:31031800-31032400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr22:31031800-31032400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr22:31031800-31032400	Flanking Active TSS	Liver	Liver
49	chr22:31031800-31032400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr22:31031800-31032600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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