Variant report

Variant	rs5994458
Chromosome Location	chr22:32345294-32345295
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32345178-32345471	K562	blood:	n/a	n/a
2	POLR2A	chr22:32345278-32345298	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:32345280-32345744	K562	blood:	n/a	n/a
4	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
5	POLR2A	chr22:32345267-32345811	GM12892	blood:	n/a	n/a
6	POLR2A	chr22:32345286-32346051	GM12892	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32343477-32346868..22:32868055-32872511	K562	blood:
2	22:32053085-32061138..22:32343477-32346868	Hela-S3	cervix:
3	chr22:32329277..32332045-chr22:32345243..32347387,3	K562	blood:
4	chr22:32296295..32297952-chr22:32343525..32345760,2	K562	blood:
5	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
6	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
7	22:32170492-32188129..22:32343477-32346868	Hela-S3	cervix:
8	chr22:32269252..32272043-chr22:32344783..32347897,3	K562	blood:
9	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
10	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
11	22:32264718-32278135..22:32343477-32346868	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238910	TF binding region
C22orf24	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000230866	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13055495	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13057194	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2246704	0.80[EUR][1000 genomes]
rs2413061	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2858753	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3747158	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4820059	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4821004	0.82[EUR][1000 genomes]
rs5994457	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998196	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5998198	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5998204	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428046	chr22:32316302-32356963	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr22:32341600-32346400	Weak transcription	Spleen	Spleen
2	chr22:32341800-32346200	Weak transcription	Esophagus	oesophagus
3	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
4	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:32342200-32346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:32342200-32347200	Weak transcription	Ovary	ovary
7	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:32342600-32346200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:32342600-32346800	Weak transcription	Colonic Mucosa	Colon
12	chr22:32342800-32346200	Weak transcription	Fetal Kidney	kidney
13	chr22:32342800-32346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr22:32342800-32346400	Weak transcription	HSMMtube	muscle
15	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
16	chr22:32343000-32346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr22:32343200-32345600	Weak transcription	Brain Anterior Caudate	brain
18	chr22:32343200-32345800	Strong transcription	HSMM	muscle
19	chr22:32343200-32346200	Weak transcription	Right Ventricle	heart
20	chr22:32343200-32347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:32343400-32345600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:32343400-32345800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:32343400-32345800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:32343400-32346200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:32343400-32347200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr22:32343400-32347200	Weak transcription	Small Intestine	intestine
27	chr22:32343400-32347400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr22:32343400-32347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr22:32343400-32348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:32343400-32348000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:32343600-32345800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr22:32343600-32345800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr22:32343600-32345800	Weak transcription	Fetal Heart	heart
36	chr22:32343600-32346200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr22:32343600-32346200	Weak transcription	Brain Substantia Nigra	brain
38	chr22:32343600-32346200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr22:32343600-32346400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr22:32343600-32346400	Weak transcription	Right Atrium	heart
41	chr22:32343600-32346600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:32343600-32346600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr22:32343600-32346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr22:32343600-32346600	Weak transcription	Aorta	Aorta
45	chr22:32343600-32347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr22:32343600-32347000	Strong transcription	Fetal Lung	lung
47	chr22:32343600-32347200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:32343600-32347400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr22:32343600-32347800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr22:32343600-32348800	Genic enhancers	K562	blood

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