Variant report

Variant	rs933226
Chromosome Location	chr22:32343847-32343848
allele	C/T
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:13)
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	chr22:32339606-32345108	IMR90	lung:	n/a	n/a
2	POLR2A	chr22:32341627-32345124	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:32342823-32345191	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:32343578-32343894	MCF10A-Er-Src	breast:	n/a	n/a
5	RAD21	chr22:32338914-32343861	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a

No data

(count:13 , 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	chr22:32296295..32297952-chr22:32343525..32345760,2	K562	blood:
4	chr22:32287695..32295635-chr22:32339159..32346051,14	K562	blood:
5	chr22:32290403..32295434-chr22:32338835..32345403,11	K562	blood:
6	chr22:32329388..32335571-chr22:32336708..32343906,17	K562	blood:
7	22:32170492-32188129..22:32343477-32346868	Hela-S3	cervix:
8	chr22:32340998..32345394-chr22:32364660..32368897,5	MCF-7	breast:
9	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
10	chr22:32056716..32060506-chr22:32341976..32344669,4	MCF-7	breast:
11	chr22:32054689..32061174-chr22:32339137..32344183,9	K562	blood:
12	chr22:32142746..32147740-chr22:32340513..32344780,7	K562	blood:
13	22:32264718-32278135..22:32343477-32346868	K562	blood:

No data

Variant related genes	Relation type
C22orf24	TF binding region
ENSG00000100150	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000183530	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1049583	0.88[CHB][hapmap]
rs12167016	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12168840	0.88[CHB][hapmap]
rs130256	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs130257	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs130264	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs130405	1.00[CEU][hapmap]
rs13054053	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2246704	0.88[CHB][hapmap]
rs2301415	0.88[CHB][hapmap]
rs2853884	1.00[CHB][hapmap]
rs2853887	1.00[CHB][hapmap]
rs2858750	0.88[CHB][hapmap]
rs2858752	0.88[CHB][hapmap]
rs36065572	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3761432	0.93[CEU][hapmap]
rs3788440	0.94[CEU][hapmap]
rs3827334	0.93[CEU][hapmap]
rs4820059	0.88[CHB][hapmap]
rs4821026	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6518758	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7290696	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7291050	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs738181	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135356	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8141011	0.88[CHB][hapmap]
rs9606887	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9606888	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9606893	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9606907	0.87[CEU][hapmap]
rs9606908	0.88[CEU][hapmap]
rs9609389	0.93[CEU][hapmap]
rs9609394	0.88[CHB][hapmap]
rs9609396	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609409	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9609427	0.87[CEU][hapmap]
rs9619244	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9621371	1.00[CHB][hapmap];0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9621386	0.87[CEU][hapmap]

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	chr22:32342000-32344400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
5	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:32342200-32344200	Weak transcription	Gastric	stomach
7	chr22:32342200-32344800	Enhancers	Stomach Mucosa	stomach
8	chr22:32342200-32346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr22:32342200-32347200	Weak transcription	Ovary	ovary
10	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:32342600-32344000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:32342600-32344000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:32342600-32344200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:32342600-32344200	Weak transcription	Pancreas	Pancrea
17	chr22:32342600-32346200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:32342600-32346800	Weak transcription	Colonic Mucosa	Colon
19	chr22:32342800-32344000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:32342800-32344000	Weak transcription	Placenta	Placenta
21	chr22:32342800-32344400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:32342800-32344600	Genic enhancers	Dnd41	blood
23	chr22:32342800-32346200	Weak transcription	Fetal Kidney	kidney
24	chr22:32342800-32346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr22:32342800-32346400	Weak transcription	HSMMtube	muscle
26	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
27	chr22:32343000-32344000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:32343000-32344400	Genic enhancers	Duodenum Mucosa	Duodenum
29	chr22:32343000-32346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:32343200-32344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr22:32343200-32344000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr22:32343200-32344000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:32343200-32344200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:32343200-32344200	Weak transcription	Fetal Intestine Large	intestine
35	chr22:32343200-32344200	Strong transcription	Fetal Muscle Leg	muscle
36	chr22:32343200-32344400	Genic enhancers	HMEC	breast
37	chr22:32343200-32345600	Weak transcription	Brain Anterior Caudate	brain
38	chr22:32343200-32345800	Strong transcription	HSMM	muscle
39	chr22:32343200-32346200	Weak transcription	Right Ventricle	heart
40	chr22:32343200-32347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr22:32343400-32344000	Weak transcription	Brain Germinal Matrix	brain
42	chr22:32343400-32344000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:32343400-32344000	Weak transcription	Left Ventricle	heart
44	chr22:32343400-32344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr22:32343400-32344200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr22:32343400-32344200	Weak transcription	Brain Angular Gyrus	brain
47	chr22:32343400-32344200	Weak transcription	Lung	lung
48	chr22:32343400-32344200	Weak transcription	Thymus	Thymus
49	chr22:32343400-32344400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:32343400-32344400	Strong transcription	Brain Hippocampus Middle	brain

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