Variant report

Variant	rs73884247
Chromosome Location	chr22:32346316-32346317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32346267-32346819	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:32346304-32346643	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:32346295-32346837	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr22:32346255-32347056	GM12892	blood:	n/a	n/a
5	POLR2A	chr22:32346286-32346748	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:32346190-32346597	K562	blood:	n/a	n/a
7	POLR2A	chr22:32346188-32346742	GM12891	blood:	n/a	n/a
8	POLR2A	chr22:32345555-32348344	K562	blood:	n/a	n/a
9	POLR2A	chr22:32346280-32346514	MCF-7	breast:	n/a	n/a
10	CTCF	chr22:32346300-32346450	NHDF-neo	bronchial:	n/a	n/a
11	CTCF	chr22:32346220-32346370	AG10803	skin:	n/a	n/a
12	CTCF	chr22:32346300-32346450	AG04449	skin:	n/a	n/a
13	POLR2A	chr22:32346226-32346880	K562	blood:	n/a	n/a
14	POLR2A	chr22:32346261-32346750	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr22:32346257-32346959	GM12892	blood:	n/a	n/a
16	POLR2A	chr22:32346205-32348610	K562	blood:	n/a	n/a
17	POLR2A	chr22:32339799-32349498	K562	blood:	n/a	n/a
18	POLR2A	chr22:32346271-32347053	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:32346291-32348270	A549	lung:	n/a	n/a
20	POLR2A	chr22:32346261-32346816	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:32346306-32346448	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:32346304-32346999	SK-N-MC	brain:	n/a	n/a

No data

(count:9 , 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	chr22:32345809..32348159-chr22:32420362..32422364,2	MCF-7	breast:
5	chr22:32061496..32064184-chr22:32345416..32347899,2	K562	blood:
6	22:32170492-32188129..22:32343477-32346868	Hela-S3	cervix:
7	chr22:32269252..32272043-chr22:32344783..32347897,3	K562	blood:
8	chr22:32264603..32274220-chr22:32339477..32348693,21	K562	blood:
9	22:32264718-32278135..22:32343477-32346868	K562	blood:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs33968460	1.00[AMR][1000 genomes]
rs55788758	1.00[AMR][1000 genomes]
rs56131484	1.00[AMR][1000 genomes]
rs57518663	1.00[AMR][1000 genomes]
rs60666969	1.00[AMR][1000 genomes]
rs60686589	1.00[AMR][1000 genomes]
rs61029609	1.00[AMR][1000 genomes]
rs61186856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61699774	1.00[AMR][1000 genomes]
rs73881605	1.00[AMR][1000 genomes]
rs73881606	1.00[AMR][1000 genomes]
rs73881608	1.00[AMR][1000 genomes]
rs73881613	1.00[AMR][1000 genomes]
rs73884237	1.00[AMR][1000 genomes]
rs73884242	1.00[AMR][1000 genomes]
rs73884243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73884248	1.00[AMR][1000 genomes]
rs73884251	1.00[AMR][1000 genomes]
rs73884253	1.00[AMR][1000 genomes]
rs73884254	1.00[AMR][1000 genomes]
rs73884263	1.00[AMR][1000 genomes]
rs73884268	1.00[AMR][1000 genomes]
rs73884269	1.00[AMR][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	chr22:32342000-32347600	Weak transcription	Primary T cells from cord blood	blood
3	chr22:32342000-32354400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:32342200-32346400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr22:32342200-32347200	Weak transcription	Ovary	ovary
6	chr22:32342200-32347600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:32342200-32347800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr22:32342400-32357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:32342600-32346800	Weak transcription	Colonic Mucosa	Colon
10	chr22:32342800-32346400	Weak transcription	HSMMtube	muscle
11	chr22:32342800-32347800	Weak transcription	Psoas Muscle	Psoas
12	chr22:32343000-32346800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr22:32343200-32347600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:32343400-32347200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr22:32343400-32347200	Weak transcription	Small Intestine	intestine
16	chr22:32343400-32347400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:32343400-32347600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:32343400-32348000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr22:32343400-32348000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:32343400-32350400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr22:32343400-32355000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:32343600-32346400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr22:32343600-32346400	Weak transcription	Right Atrium	heart
24	chr22:32343600-32346600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr22:32343600-32346600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:32343600-32346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:32343600-32346600	Weak transcription	Aorta	Aorta
28	chr22:32343600-32347000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:32343600-32347000	Strong transcription	Fetal Lung	lung
30	chr22:32343600-32347200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr22:32343600-32347400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr22:32343600-32347800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:32343600-32348800	Genic enhancers	K562	blood
34	chr22:32343600-32349200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:32343600-32349800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
36	chr22:32343600-32354600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:32343800-32346400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:32343800-32346400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr22:32343800-32346600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:32343800-32346600	Strong transcription	GM12878-XiMat	blood
41	chr22:32343800-32347200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr22:32343800-32347600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr22:32343800-32347800	Weak transcription	Liver	Liver
44	chr22:32343800-32351000	Strong transcription	Primary B cells from cord blood	blood
45	chr22:32344000-32346600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:32344000-32347000	Strong transcription	Fetal Intestine Small	intestine
47	chr22:32344000-32347200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:32344000-32347200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:32344000-32348200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:32344200-32347800	Weak transcription	Placenta Amnion	Placenta Amnion

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