Variant report

Variant	rs13057853
Chromosome Location	chr22:33454441-33454442
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	MAZ	chr22:33454153-33454928	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33454459-33454469
2	POLR2A	chr22:33453952-33454486	H1-neurons	neurons:	n/a	n/a
3	JUND	chr22:33454251-33454446	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr22:33454300-33454450	WERI-Rb-1	eye:	n/a	n/a
5	POLR2A	chr22:33454121-33454728	HEK293	kidney:	n/a	n/a
6	EGR1	chr22:33454219-33454723	H1-hESC	embryonic stem cell:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495
7	MAX	chr22:33454176-33454858	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33454459-33454469
8	RAD21	chr22:33454210-33454448	H1-hESC	embryonic stem cell:	n/a	chr22:33454299-33454312
9	CTCF	chr22:33454356-33454452	GM19238	blood:	n/a	n/a
10	MAX	chr22:33453431-33454933	HepG2	liver:	n/a	chr22:33454485-33454494 chr22:33453841-33453850 chr22:33454459-33454469
11	CTCF	chr22:33454300-33454450	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr22:33454320-33454470	HRPEpiC	eye:	n/a	n/a
13	POLR2A	chr22:33454419-33454757	HepG2	liver:	n/a	n/a
14	CTCF	chr22:33454205-33454451	HepG2	liver:	n/a	n/a
15	TBP	chr22:33454212-33455008	HepG2	liver:	n/a	n/a
16	MYBL2	chr22:33454180-33454945	HepG2	liver:	n/a	n/a
17	TBP	chr22:33453531-33454649	H1-hESC	embryonic stem cell:	n/a	n/a
18	GTF2F1	chr22:33454350-33454451	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr22:33454309-33454458	MCF-7	breast:	n/a	n/a
20	CTCF	chr22:33454300-33454450	GM12865	blood:	n/a	n/a
21	RAD21	chr22:33454153-33454479	HepG2	liver:	n/a	chr22:33454168-33454178 chr22:33454299-33454312
22	CTCF	chr22:33454340-33454490	SAEC	small airway:	n/a	n/a
23	YY1	chr22:33454058-33454575	HepG2	liver:	n/a	chr22:33454452-33454466 chr22:33454065-33454079
24	POLR2A	chr22:33454155-33454455	H1-hESC	embryonic stem cell:	n/a	n/a
25	NFIC	chr22:33454416-33454868	HepG2	liver:	n/a	n/a
26	MAZ	chr22:33454354-33454443	K562	blood:	n/a	n/a
27	CEBPD	chr22:33454274-33454591	HepG2	liver:	n/a	n/a
28	CTCF	chr22:33454340-33454490	GM12870	blood:	n/a	n/a
29	CTCF	chr22:33454284-33454499	NHEK	skin:	n/a	n/a
30	CTCF	chr22:33454300-33454450	GM12866	blood:	n/a	n/a
31	EGR1	chr22:33454326-33454601	K562	blood:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495
32	POLR2A	chr22:33454118-33454705	HepG2	liver:	n/a	n/a
33	TAF1	chr22:33454156-33454544	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF143	chr22:33454216-33454678	H1-hESC	embryonic stem cell:	n/a	chr22:33454320-33454330
35	CEBPB	chr22:33454297-33454465	HepG2	liver:	n/a	n/a
36	EGR1	chr22:33454151-33454696	H1-hESC	embryonic stem cell:	n/a	chr22:33454460-33454470 chr22:33454484-33454494 chr22:33454483-33454496 chr22:33454484-33454493 chr22:33454482-33454496 chr22:33454469-33454479 chr22:33454459-33454469 chr22:33454483-33454496 chr22:33454484-33454495
37	CTCF	chr22:33454334-33454482	K562	blood:	n/a	n/a
38	RAD21	chr22:33454211-33454662	HepG2	liver:	n/a	chr22:33454299-33454312
39	CTCF	chr22:33454302-33454470	MCF-7	breast:	n/a	n/a
40	TAF1	chr22:33454152-33454483	HepG2	liver:	n/a	n/a
41	TEAD4	chr22:33454151-33454505	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr22:33454266-33454450	SK-N-SH_RA	brain:	n/a	n/a
43	ZBTB7A	chr22:33454287-33454445	K562	blood:	n/a	n/a
44	CTCF	chr22:33454134-33454498	K562	blood:	n/a	n/a
45	CTCF	chr22:33454312-33454444	ProgFib	skin:	n/a	n/a
46	CTCF	chr22:33454320-33454470	GM12868	blood:	n/a	n/a
47	POLR2A	chr22:33454021-33454811	HepG2	liver:	n/a	n/a
48	SIN3A	chr22:33453447-33454725	H1-hESC	embryonic stem cell:	n/a	chr22:33453720-33453728 chr22:33454462-33454473 chr22:33454450-33454463 chr22:33453953-33453962
49	HNF4G	chr22:33454437-33455070	HepG2	liver:	n/a	n/a
50	CTCF	chr22:33454304-33454471	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33452523-33459358	Hela-S3	cervix:
2	chr22:32523564..32526507-chr22:33453978..33455661,2	MCF-7	breast:
3	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
4	22:33030812-33041554..22:33452523-33459358	GM12878	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000240647	Chromatin interaction
ENSG00000251890	Chromatin interaction
ENSG00000237439	Chromatin interaction
ENSG00000230866	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11914139	0.84[EUR][1000 genomes]
rs13057082	0.83[EUR][1000 genomes]
rs13057166	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2413163	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs739144	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9619326	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9621624	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9621625	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9621626	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
5	esv3390652	chr22:33452977-33455825	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33450800-33454600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr22:33451200-33454800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
3	chr22:33452200-33454800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
4	chr22:33452600-33454600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
5	chr22:33452800-33454800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr22:33453400-33454800	Bivalent Enhancer	NHEK	skin
7	chr22:33453600-33454800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr22:33453800-33454600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:33453800-33454600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr22:33453800-33454600	Active TSS	Right Atrium	heart
11	chr22:33453800-33454800	Bivalent Enhancer	Liver	Liver
12	chr22:33453800-33454800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:33453800-33454800	Active TSS	HepG2	liver
14	chr22:33454000-33454600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr22:33454000-33454600	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr22:33454000-33454600	Bivalent/Poised TSS	Right Ventricle	heart
17	chr22:33454000-33454600	Bivalent/Poised TSS	A549	lung
18	chr22:33454000-33454800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:33454000-33454800	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr22:33454000-33454800	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr22:33454000-33454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:33454000-33454800	Active TSS	Fetal Brain Female	brain
23	chr22:33454000-33454800	Bivalent Enhancer	Spleen	Spleen
24	chr22:33454000-33455000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:33454200-33454600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr22:33454200-33454600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:33454200-33454800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr22:33454200-33454800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr22:33454200-33454800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
30	chr22:33454200-33454800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:33454200-33454800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr22:33454200-33454800	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr22:33454200-33454800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr22:33454400-33454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:33454400-33454600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr22:33454400-33454600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
37	chr22:33454400-33454800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:33454400-33454800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:33454400-33454800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:33454400-33454800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr22:33454400-33454800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr22:33454400-33454800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
43	chr22:33454400-33454800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr22:33454400-33454800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr22:33454400-33454800	Bivalent Enhancer	Fetal Stomach	stomach
46	chr22:33454400-33458400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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