Variant report

Variant	rs56240204
Chromosome Location	chr22:32662384-32662385
allele	A/C
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	RAD21	chr22:32662016-32662630	HepG2	liver:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
2	CTCF	chr22:32662217-32662479	LNCaP	prostate:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
3	CTCF	chr22:32662240-32662390	NHLF	lung:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
4	CTCF	chr22:32662280-32662430	HPAF	blood vessel:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
5	CTCF	chr22:32662260-32662410	HCT-116	colon:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
6	MAZ	chr22:32662282-32662482	HepG2	liver:	n/a	n/a
7	CTCF	chr22:32662280-32662430	HMF	breast:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
8	STAT3	chr22:32662381-32662513	MCF10A-Er-Src	breast:	n/a	n/a
9	RAD21	chr22:32662224-32662452	GM12878	blood:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
10	CTCF	chr22:32662160-32662427	A549	lung:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
11	CTCF	chr22:32662240-32662390	GM12871	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
12	CTCF	chr22:32662280-32662430	GM06990	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
13	CTCF	chr22:32662260-32662410	GM12878	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
14	CTCF	chr22:32662280-32662430	HPF	lung:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
15	YY1	chr22:32662193-32662472	GM12878	blood:	n/a	n/a
16	RAD21	chr22:32662210-32662478	A549	lung:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
17	SMC3	chr22:32662184-32662527	K562	blood:	n/a	chr22:32662333-32662343 chr22:32662333-32662347
18	CTCF	chr22:32662280-32662430	GM12864	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
19	CTCF	chr22:32662240-32662390	GM12864	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
20	IRF1	chr22:32662199-32662513	K562	blood:	n/a	chr22:32662385-32662399 chr22:32662384-32662396
21	CTCF	chr22:32662280-32662430	HAc	cerebellar:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
22	CTCF	chr22:32662260-32662410	HCFaa	heart:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
23	RAD21	chr22:32662100-32662574	MCF-7	breast:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
24	CTCF	chr22:32662227-32662460	ProgFib	skin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
25	CTCF	chr22:32662149-32662487	K562	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
26	CTCF	chr22:32662340-32662490	GM12866	blood:	n/a	n/a
27	CTCF	chr22:32662161-32662487	ECC-1	luminal epithelium:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
28	CTCF	chr22:32662260-32662410	HRE	kidney:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
29	CTCF	chr22:32662235-32662441	GM19239	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
30	CTCF	chr22:32662300-32662450	HEK293	kidney:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
31	CTCF	chr22:32662204-32662506	Medullo	brain:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
32	CTCF	chr22:32662280-32662430	HFF-Myc	foreskin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
33	CTCF	chr22:32662300-32662450	GM12873	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
34	RAD21	chr22:32662068-32662478	H1-hESC	embryonic stem cell:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
35	CTCF	chr22:32662245-32662425	H1-hESC	embryonic stem cell:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
36	RAD21	chr22:32662071-32662579	ECC-1	luminal epithelium:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
37	CTCF	chr22:32662240-32662390	RPTEC	kidney:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
38	CTCF	chr22:32662260-32662410	Caco-2	colon:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
39	CTCF	chr22:32662244-32662415	MCF-7	breast:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
40	CTCF	chr22:32662280-32662430	BJ	skin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
41	RAD21	chr22:32662012-32662478	H1-hESC	embryonic stem cell:	n/a	chr22:32662329-32662348 chr22:32662331-32662343
42	CTCF	chr22:32662280-32662430	HepG2	liver:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
43	CTCF	chr22:32662280-32662430	AG10803	skin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
44	CEBPB	chr22:32662267-32662468	HepG2	liver:	n/a	n/a
45	CTCF	chr22:32662244-32662459	MCF-7	breast:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
46	STAT1	chr22:32662257-32662414	GM12878	blood:	n/a	n/a
47	CTCF	chr22:32662233-32662456	NHEK	skin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
48	ARID3A	chr22:32662233-32662530	HepG2	liver:	n/a	n/a
49	CTCF	chr22:32662240-32662390	HFF-Myc	foreskin:	n/a	chr22:32662331-32662349 chr22:32662332-32662348
50	CTCF	chr22:32662240-32662390	GM12870	blood:	n/a	chr22:32662331-32662349 chr22:32662332-32662348

No.	Distal block	Cell Line	Cell type
1	chr22:32601130..32602920-chr22:32660025..32662874,2	MCF-7	breast:
2	chr22:32598096..32598999-chr22:32661829..32662840,5	MCF-7	breast:
3	chr22:32661924..32662587-chr22:32751548..32752470,3	MCF-7	breast:
4	chr22:32596644..32597356-chr22:32662252..32662826,2	MCF-7	breast:

Variant related genes	Relation type
CPSF1P1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs5998359	0.93[EUR][1000 genomes]
rs5998363	0.93[EUR][1000 genomes]
rs67817759	0.93[EUR][1000 genomes]
rs7285242	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9621420	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
8	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
9	esv2753006	chr22:32592120-32719481	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32657600-32665400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:32661600-32665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:32661800-32662400	Active TSS	Stomach Smooth Muscle	stomach
4	chr22:32661800-32662400	Enhancers	HUVEC	blood vessel
5	chr22:32661800-32662600	Enhancers	Liver	Liver
6	chr22:32661800-32662600	Enhancers	HepG2	liver
7	chr22:32661800-32662800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr22:32662000-32662400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:32662000-32662400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:32662000-32662400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:32662000-32662400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr22:32662000-32662400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr22:32662000-32662400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:32662000-32662400	Enhancers	Psoas Muscle	Psoas
15	chr22:32662000-32662400	Active TSS	Right Atrium	heart
16	chr22:32662000-32662400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr22:32662000-32662600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:32662000-32662600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr22:32662000-32662600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr22:32662000-32662600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr22:32662000-32662600	Enhancers	Dnd41	blood
22	chr22:32662200-32662400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:32662200-32662400	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr22:32662200-32662600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr22:32662200-32672600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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