Variant report

Variant	rs73160697
Chromosome Location	chr22:32025560-32025561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:140)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:140 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:32025498-32027407	GM19099	blood:	n/a	n/a
2	CTCF	chr22:32025520-32025670	NHEK	skin:	n/a	n/a
3	CTCF	chr22:32025520-32025670	GM12873	blood:	n/a	n/a
4	POLR2A	chr22:32025483-32025615	HUVEC	blood vessel:	n/a	n/a
5	MTA3	chr22:32025127-32025750	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:32024977-32025735	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:32024622-32025644	IMR90	lung:	n/a	n/a
8	CTCF	chr22:32025420-32025570	GM12868	blood:	n/a	n/a
9	CTCF	chr22:32025460-32025610	GM12870	blood:	n/a	n/a
10	CTCF	chr22:32025560-32025710	HCT-116	colon:	n/a	n/a
11	CTCF	chr22:32025379-32025700	K562	blood:	n/a	n/a
12	CTCF	chr22:32025440-32025590	GM06990	blood:	n/a	n/a
13	ZC3H11A	chr22:32025539-32025727	K562	blood:	n/a	n/a
14	POLR2A	chr22:32024886-32027721	GM12892	blood:	n/a	n/a
15	POLR2A	chr22:32024978-32027408	GM12878	blood:	n/a	n/a
16	CTCF	chr22:32025520-32025670	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr22:32025520-32025670	SAEC	small airway:	n/a	n/a
18	CTCF	chr22:32025420-32025570	GM12871	blood:	n/a	n/a
19	POLR2A	chr22:32025198-32027926	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr22:32025519-32025579	GM10248	blood:	n/a	n/a
21	MYC	chr22:32025432-32025698	MCF-7	breast:	n/a	n/a
22	POLR2A	chr22:32025106-32025688	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:32025282-32025906	K562	blood:	n/a	n/a
24	CTCF	chr22:32025440-32025590	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr22:32025225-32025702	NHEK	skin:	n/a	n/a
26	JUND	chr22:32025498-32025606	K562	blood:	n/a	n/a
27	CTCF	chr22:32025500-32025650	HEK293	kidney:	n/a	n/a
28	POLR2A	chr22:32025252-32027257	K562	blood:	n/a	n/a
29	CTCF	chr22:32025454-32025659	GM12878	blood:	n/a	n/a
30	CTCF	chr22:32025460-32025610	SAEC	small airway:	n/a	n/a
31	POLR2A	chr22:32025093-32027734	GM18505	blood:	n/a	n/a
32	ZEB1	chr22:32025246-32025678	GM12878	blood:	n/a	n/a
33	CTCF	chr22:32025500-32025650	HRE	kidney:	n/a	n/a
34	CTCF	chr22:32025496-32025632	Gliobla	brain:	n/a	n/a
35	POLR2A	chr22:32013628-32027741	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr22:32025244-32025648	MCF-7	breast:	n/a	n/a
37	POLR2A	chr22:32025007-32027403	MCF-7	breast:	n/a	n/a
38	CTCF	chr22:32025396-32025690	GM12892	blood:	n/a	n/a
39	CTCF	chr22:32025500-32025650	A549	lung:	n/a	n/a
40	POLR2A	chr22:32025556-32027270	GM18951	blood:	n/a	n/a
41	CTCF	chr22:32025460-32025610	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr22:32025440-32025590	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr22:32025184-32025576	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr22:32025540-32025690	HEK293	kidney:	n/a	n/a
45	CTCF	chr22:32025440-32025590	HMEC	breast:	n/a	n/a
46	CTCF	chr22:32025420-32025570	HBMEC	blood vessel:	n/a	n/a
47	POLR2A	chr22:32025125-32025990	K562	blood:	n/a	n/a
48	CTCF	chr22:32025367-32025711	K562	blood:	n/a	n/a
49	CTCF	chr22:32025448-32025653	MCF-7	breast:	n/a	n/a
50	POLR2A	chr22:32025131-32025778	GM12892	blood:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32012966-32043914..22:32347255-32351014	K562	blood:
2	22:31936958-31958600..22:32012966-32043914	GM12878	blood:
3	chr22:32024471..32026480-chr22:32056771..32058290,2	MCF-7	breast:
4	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
5	22:32012966-32043914..22:32513817-32522138	K562	blood:
6	22:31829733-31836635..22:32012966-32043914	GM12878	blood:
7	22:32012966-32043914..22:32665993-32670527	K562	blood:
8	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
9	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
10	chr22:31971863..31974758-chr22:32025154..32029039,5	MCF-7	breast:
11	chr22:32023093..32026034-chr22:32340368..32341945,2	K562	blood:
12	22:31930706-31935473..22:32012966-32043914	GM12878	blood:
13	22:32012966-32043914..22:32529813-32538538	K562	blood:
14	chr22:31957051..31957599-chr22:32025028..32025686,2	MCF-7	breast:
15	22:32012966-32043914..22:32846948-32860159	K562	blood:
16	chr22:32024493..32026910-chr22:32057985..32060151,2	K562	blood:
17	chr22:31978255..31985248-chr22:32021950..32028161,12	MCF-7	breast:
18	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
19	chr22:32025067..32026955-chr22:32148287..32151224,2	K562	blood:
20	22:32012966-32043914..22:32360288-32405313	K562	blood:

No data

Variant related genes	Relation type
PISD	TF binding region
ENSG00000232707	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000239674	Chromatin interaction
ENSG00000234479	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000224050	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000240647	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16989291	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3747156	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3747157	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55883820	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55989741	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56219558	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56338522	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5994404	0.82[EUR][1000 genomes]
rs5994405	0.82[EUR][1000 genomes]
rs5994412	0.88[EUR][1000 genomes]
rs73160657	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73160662	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73160669	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8139890	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829176	chr22:31998223-32029556	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2830290	chr22:32011225-32057964	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 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	chr22:32010200-32025600	Genic enhancers	Placenta	Placenta
2	chr22:32014000-32025600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr22:32016600-32025600	Weak transcription	Small Intestine	intestine
4	chr22:32016800-32025600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:32017600-32025600	Genic enhancers	Spleen	Spleen
6	chr22:32018000-32025600	Weak transcription	Aorta	Aorta
7	chr22:32018200-32025600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr22:32018200-32025600	Weak transcription	HSMMtube	muscle
9	chr22:32019600-32026000	Genic enhancers	Esophagus	oesophagus
10	chr22:32020400-32025800	Enhancers	Fetal Thymus	thymus
11	chr22:32020800-32025600	Genic enhancers	Lung	lung
12	chr22:32020800-32026000	Genic enhancers	Gastric	stomach
13	chr22:32020800-32026000	Enhancers	Stomach Mucosa	stomach
14	chr22:32021400-32025800	Enhancers	Right Atrium	heart
15	chr22:32021800-32025600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr22:32022000-32025600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr22:32022000-32025800	Enhancers	Psoas Muscle	Psoas
18	chr22:32022200-32025800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr22:32022400-32025600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr22:32022400-32025600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr22:32022400-32025600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:32022400-32025800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:32022600-32025600	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr22:32022600-32026000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:32022800-32025600	Weak transcription	A549	lung
26	chr22:32022800-32025600	Weak transcription	NH-A	brain
27	chr22:32022800-32025800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr22:32023000-32025600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr22:32023000-32025600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:32023000-32025800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr22:32023000-32025800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr22:32023000-32026400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:32023200-32025600	Weak transcription	Fetal Kidney	kidney
34	chr22:32023200-32025600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr22:32023200-32025800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr22:32023400-32025600	Weak transcription	Colonic Mucosa	Colon
37	chr22:32023600-32025800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr22:32023600-32026000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr22:32023600-32026000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:32024000-32025600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:32024000-32025600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
42	chr22:32024000-32025600	Genic enhancers	HepG2	liver
43	chr22:32024000-32025600	Genic enhancers	HUVEC	blood vessel
44	chr22:32024000-32025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:32024200-32025600	Enhancers	Primary T cells from cord blood	blood
46	chr22:32024200-32025600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:32024200-32025600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:32024200-32025600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:32024200-32025800	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr22:32024200-32025800	Genic enhancers	Fetal Muscle Leg	muscle

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