Variant report

Variant	rs73069840
Chromosome Location	chr20:1089340-1089341
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr20:1089101-1089438	GM12878	blood:	n/a	n/a
2	CTCF	chr20:1089220-1089370	GM12864	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
3	CTCF	chr20:1089110-1089425	GM12878	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
4	CTCF	chr20:1089151-1089378	GM13976	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
5	CTCF	chr20:1089200-1089350	HEEpiC	esophagus:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
6	CTCF	chr20:1089220-1089370	NHDF-neo	bronchial:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
7	CTCF	chr20:1089164-1089376	Kidney_OC	kidney:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
8	RAD21	chr20:1089100-1089435	K562	blood:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
9	GTF2F1	chr20:1089153-1089442	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr20:1089017-1089421	K562	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
11	CTCF	chr20:1089060-1089350	A549	lung:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
12	CTCF	chr20:1089200-1089350	HL-60	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
13	RAD21	chr20:1088912-1089545	HCT-116	colon:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
14	CTCF	chr20:1089128-1089400	ProgFib	skin:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
15	CTCF	chr20:1089033-1089507	MCF-7	breast:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
16	SMC3	chr20:1089070-1089524	K562	blood:	n/a	chr20:1089260-1089274 chr20:1089176-1089184
17	CTCF	chr20:1089054-1089499	H1-hESC	embryonic stem cell:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
18	CTCF	chr20:1089112-1089406	NHEK	skin:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
19	CTCF	chr20:1089220-1089370	GM12867	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
20	CTCF	chr20:1089220-1089370	RPTEC	kidney:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
21	RAD21	chr20:1089110-1089452	Hela-S3	cervix:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
22	RAD21	chr20:1088654-1090067	SK-N-SH	brain:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
23	RAD21	chr20:1089063-1089468	GM12878	blood:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
24	CTCF	chr20:1089200-1089350	AG04449	skin:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
25	CTCF	chr20:1089200-1089350	Hela-S3	cervix:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
26	CTCF	chr20:1089142-1089447	GM10266	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
27	WRNIP1	chr20:1089153-1089490	GM12878	blood:	n/a	n/a
28	FOXA1	chr20:1089153-1089342	T-47D	breast:	n/a	n/a
29	CTCF	chr20:1089169-1089406	GM20000	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
30	CTCF	chr20:1089200-1089350	GM12875	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
31	CTCF	chr20:1089013-1089564	K562	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
32	CTCF	chr20:1089044-1089462	MCF-7	breast:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
33	CTCF	chr20:1089220-1089370	GM12869	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
34	MYC	chr20:1089124-1089431	K562	blood:	n/a	n/a
35	STAT1	chr20:1089288-1089355	GM12878	blood:	n/a	n/a
36	CTCF	chr20:1089122-1089365	A549	lung:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
37	CHD2	chr20:1089072-1089382	GM12878	blood:	n/a	n/a
38	RAD21	chr20:1089025-1089458	HepG2	liver:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
39	RAD21	chr20:1088995-1089550	HepG2	liver:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
40	CTCF	chr20:1089200-1089350	SAEC	small airway:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
41	CTCF	chr20:1089200-1089350	HepG2	liver:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
42	CTCF	chr20:1089155-1089409	Lung_OC	lung:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
43	RAD21	chr20:1089023-1089544	MCF-7	breast:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
44	CTCF	chr20:1089220-1089370	HFF	foreskin:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
45	RAD21	chr20:1089034-1089423	SK-N-SH_RA	brain:	n/a	chr20:1089262-1089271 chr20:1089256-1089275 chr20:1089258-1089270
46	MAZ	chr20:1089031-1089441	HepG2	liver:	n/a	n/a
47	CTCF	chr20:1089200-1089350	GM12865	blood:	n/a	chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
48	CTCF	chr20:1089117-1089402	GM19239	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
49	CTCF	chr20:1088972-1089509	HepG2	liver:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273
50	CTCF	chr20:1089103-1089428	GM12892	blood:	n/a	chr20:1089177-1089186 chr20:1089258-1089276 chr20:1089259-1089275 chr20:1089253-1089274 chr20:1089260-1089273

No.	Distal block	Cell Line	Cell type
1	chr20:1087941..1090289-chr20:1097443..1099085,2	K562	blood:
2	chr20:799166..801385-chr20:1087712..1090204,2	K562	blood:
3	chr20:796372..797147-chr20:1088785..1089700,2	K562	blood:
4	chr20:795971..798592-chr20:1088123..1090467,2	K562	blood:
5	chr20:1088811..1089830-chr20:1193079..1194181,4	K562	blood:
6	chr20:1087941..1090786-chr20:1097443..1099865,2	K562	blood:

Variant related genes	Relation type
PSMF1	TF binding region
ENSG00000125818	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55751955	0.81[ASN][1000 genomes]
rs56761356	0.81[ASN][1000 genomes]
rs6077773	0.81[ASN][1000 genomes]
rs6077779	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS 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	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1065838	chr20:866302-1147601	Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544139	chr20:866302-1147601	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1055328	chr20:867911-1145765	Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1059611	chr20:867911-1158694	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv544140	chr20:867911-1158694	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv949356	chr20:961527-1135413	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1085600-1098200	Weak transcription	Spleen	Spleen
2	chr20:1089000-1089400	Enhancers	Primary B cells from peripheral blood	blood
3	chr20:1089000-1089400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:1089000-1089600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr20:1089000-1089600	Enhancers	Brain Anterior Caudate	brain
6	chr20:1089000-1098200	Weak transcription	K562	blood
7	chr20:1089200-1098200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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