Variant report

Variant	rs73221121
Chromosome Location	chr4:722598-722599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:722598-722648	PFSK-1	brain:	n/a
2	chr4:722598-722648	AoSMC	blood vessel:	n/a
3	chr4:722598-722648	HIPEpiC	eye:	n/a
4	chr4:722598-722648	HRE	kidney:	n/a
5	chr4:722598-722648	PrEC	prostate:	n/a
6	chr4:722598-722648	MCF-7	breast:	n/a
7	chr4:722598-722648	HPAEpiC	pulmonary alveolar:	n/a
8	chr4:722598-722648	AG04450	lung:	fetal
9	chr4:722598-722648	AG09319	gingival:	n/a
10	chr4:722598-722648	IMR90	lung:	fetal
11	chr4:722598-722648	HEK293	kidney:	embryo
12	chr4:722598-722648	AG10803	skin:	n/a
13	chr4:722598-722648	HRCEpiC	kidney:	n/a
14	chr4:722598-722648	NB4	blood:	n/a
15	chr4:722598-722648	NHDF-neo	bronchial:	n/a
16	chr4:722598-722648	RPTEC	kidney:	n/a
17	chr4:722598-722648	PANC-1	pancreas:	n/a
18	chr4:722598-722648	MCF10A-Er-Src	breast:	n/a
19	chr4:722598-722648	Hepatocyte	liver:	n/a
20	chr4:722598-722648	HMEC	breast:	n/a
21	chr4:722598-722648	GM12878	blood:	n/a
22	chr4:722598-722648	HepG2	liver:	n/a
23	chr4:722598-722648	HRPEpiC	eye:	n/a
24	chr4:722598-722648	K562	blood:	n/a
25	chr4:722598-722648	SAEC	small airway:	n/a
26	chr4:722598-722648	HCPEpiC	choroid plexus:	n/a
27	chr4:722598-722648	GM12891	blood:	n/a
28	chr4:722598-722648	NT2-D1	testis:	n/a
29	chr4:722598-722648	ovcar-3	ovarian:	n/a
30	chr4:722598-722648	Caco-2	colon:	n/a
31	chr4:722598-722648	ECC-1	luminal epithelium:	n/a
32	chr4:722598-722648	AG04449	skin:	fetal
33	chr4:722598-722648	AG09309	skin:	n/a
34	chr4:722598-722648	GM12892	blood:	n/a
35	chr4:722598-722648	GM19239	blood:	n/a
36	chr4:722598-722648	HNPCEpiC	eye:	n/a
37	chr4:722598-722648	U87	brain:	n/a
38	chr4:722598-722648	GM06990	blood:	n/a
39	chr4:722598-722648	NHBE	bronchial:	n/a
40	chr4:722598-722648	SK-N-MC	brain:	n/a
41	chr4:722598-722648	SK-N-SH	brain:	n/a
42	chr4:722598-722648	HCM	heart:	n/a
43	chr4:722598-722648	Jurkat	blood:	n/a
44	chr4:722598-722648	HL-60	blood:	n/a
45	chr4:722598-722648	HEEpiC	esophagus:	n/a
46	chr4:722598-722648	HCT-116	colon:	n/a
47	chr4:722598-722648	A549	lung:	n/a
48	chr4:722598-722648	Hela-S3	cervix:	n/a
49	chr4:722598-722648	HUVEC	blood vessel:	n/a
50	chr4:722598-722648	H1-hESC	embryonic stem cell:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:718846..721970-chr4:722068..726476,6	K562	blood:
2	chr4:676118..678375-chr4:722491..724316,2	K562	blood:
3	chr4:685168..687948-chr4:720872..722966,2	K562	blood:
4	chr4:701224..703407-chr4:720806..724106,3	K562	blood:

No data

Variant related genes	Relation type
PCGF3	CpG island
ENSG00000248416	CpG island
ENSG00000185619	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10004172	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11248035	0.81[ASN][1000 genomes]
rs11248036	0.81[ASN][1000 genomes]
rs11728488	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11735280	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12374317	0.81[ASN][1000 genomes]
rs12374324	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12502944	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12504026	0.81[ASN][1000 genomes]
rs12505220	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17164964	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4234853	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4690189	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4690192	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4690294	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4690295	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55990625	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845891	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73221124	0.89[ASN][1000 genomes]
rs73221200	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv1833383	chr4:708887-753697	Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv878253	chr4:708932-771587	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
17	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv593210	chr4:712222-725867	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv878256	chr4:712222-744098	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
22	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
23	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
24	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
25	nsv593211	chr4:716248-725867	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv593212	chr4:716497-725867	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv593213	chr4:716497-726322	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73221121	PCGF3	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:701200-724400	Weak transcription	Aorta	Aorta
2	chr4:701400-724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:701400-724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:702200-754800	Weak transcription	Hela-S3	cervix
5	chr4:702600-724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
7	chr4:703400-724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:703800-724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:704000-724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:704800-724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:705000-724400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr4:708200-736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:709200-724400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:709200-726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:709200-726200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr4:711800-724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:713400-727600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr4:714200-726200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:715200-724400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:715200-726200	Weak transcription	HMEC	breast
24	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:716200-724400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:716400-724600	Weak transcription	NHEK	skin
27	chr4:716800-724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:717000-724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:717000-724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr4:717200-724200	Weak transcription	Primary T cells from cord blood	blood
31	chr4:717200-724400	Weak transcription	GM12878-XiMat	blood
32	chr4:717600-723200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:717600-724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:717600-724400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr4:717800-723600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:717800-723800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr4:717800-723800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:717800-724400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:717800-724400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:718000-724600	Weak transcription	Fetal Lung	lung
41	chr4:718200-723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:718200-723800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:718200-724600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr4:718400-735400	Weak transcription	Fetal Heart	heart
45	chr4:718600-732600	Weak transcription	Stomach Mucosa	stomach
46	chr4:718800-724600	Weak transcription	HepG2	liver
47	chr4:719000-733000	Strong transcription	Fetal Intestine Small	intestine
48	chr4:719400-724400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr4:719800-724600	Weak transcription	Colonic Mucosa	Colon
50	chr4:720000-724400	Weak transcription	Rectal Mucosa Donor 31	rectum

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