Variant report

Variant	rs61591758
Chromosome Location	chr20:1093839-1093840
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr20:1093623-1093862	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1093802-1093852	HAEpiC	amniotic membrane:	n/a
2	chr20:1093802-1093852	T-47D	breast:	n/a
3	chr20:1093802-1093852	GM12878	blood:	n/a
4	chr20:1093802-1093852	HepG2	liver:	n/a
5	chr20:1093802-1093852	GM06990	blood:	n/a
6	chr20:1093802-1093852	HCF	heart:	n/a
7	chr20:1093802-1093852	BE2_C	brain:	n/a
8	chr20:1093802-1093852	ProgFib	skin:	n/a
9	chr20:1093802-1093852	CMK	blood:	n/a
10	chr20:1093802-1093852	Caco-2	colon:	n/a
11	chr20:1093802-1093852	HEK293	kidney:	embryo
12	chr20:1093802-1093852	Hepatocyte	liver:	n/a
13	chr20:1093802-1093852	HPAEpiC	pulmonary alveolar:	n/a
14	chr20:1093802-1093852	Jurkat	blood:	n/a
15	chr20:1093802-1093852	NT2-D1	testis:	n/a
16	chr20:1093802-1093852	HL-60	blood:	n/a
17	chr20:1093802-1093852	SK-N-SH_RA	brain:	n/a
18	chr20:1093802-1093852	IMR90	lung:	fetal
19	chr20:1093802-1093852	AG04449	skin:	fetal
20	chr20:1093802-1093852	HEEpiC	esophagus:	n/a
21	chr20:1093802-1093852	HNPCEpiC	eye:	n/a
22	chr20:1093802-1093852	MCF10A-Er-Src	breast:	n/a
23	chr20:1093802-1093852	SAEC	small airway:	n/a
24	chr20:1093802-1093852	GM12891	blood:	n/a
25	chr20:1093802-1093852	SK-N-SH	brain:	n/a
26	chr20:1093802-1093852	AG04450	lung:	fetal
27	chr20:1093802-1093852	HCM	heart:	n/a
28	chr20:1093802-1093852	Hela-S3	cervix:	n/a
29	chr20:1093802-1093852	HUVEC	blood vessel:	n/a
30	chr20:1093802-1093852	AG10803	skin:	n/a
31	chr20:1093802-1093852	U87	brain:	n/a
32	chr20:1093802-1093852	HMEC	breast:	n/a
33	chr20:1093802-1093852	GM12892	blood:	n/a
34	chr20:1093802-1093852	NHDF-neo	bronchial:	n/a
35	chr20:1093802-1093852	AG09309	skin:	n/a
36	chr20:1093802-1093852	NB4	blood:	n/a
37	chr20:1093802-1093852	SK-N-MC	brain:	n/a
38	chr20:1093802-1093852	GM19239	blood:	n/a
39	chr20:1093802-1093852	HRE	kidney:	n/a
40	chr20:1093802-1093852	AoSMC	blood vessel:	n/a
41	chr20:1093802-1093852	NH-A	brain:	n/a
42	chr20:1093802-1093852	MCF-7	breast:	n/a
43	chr20:1093802-1093852	HCPEpiC	choroid plexus:	n/a
44	chr20:1093802-1093852	BJ	skin:	n/a
45	chr20:1093802-1093852	ovcar-3	ovarian:	n/a
46	chr20:1093802-1093852	AG09319	gingival:	n/a
47	chr20:1093802-1093852	LNCaP	prostate:	n/a
48	chr20:1093802-1093852	NHBE	bronchial:	n/a
49	chr20:1093802-1093852	HCT-116	colon:	n/a
50	chr20:1093802-1093852	PrEC	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1093479..1095284-chr20:1095646..1099615,3	K562	blood:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2284373	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2284374	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55761410	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56273960	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6077860	0.84[AMR][1000 genomes];0.85[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1085600-1098200	Weak transcription	Spleen	Spleen
2	chr20:1089000-1098200	Weak transcription	K562	blood
3	chr20:1089200-1098200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr20:1089400-1098200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:1089800-1095000	Weak transcription	HepG2	liver

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