Variant report

Variant	rs56031223
Chromosome Location	chr4:122302423-122302424
allele	A/T
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	chr4:122301574-122302445	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr4:122301008-122302583	H1-hESC	embryonic stem cell:	n/a	chr4:122302254-122302265 chr4:122301760-122301775 chr4:122302330-122302337
3	E2F6	chr4:122301392-122302504	H1-hESC	embryonic stem cell:	n/a	chr4:122302254-122302265 chr4:122301760-122301775 chr4:122302330-122302337
4	CEBPB	chr4:122302127-122302599	H1-hESC	embryonic stem cell:	n/a	chr4:122302415-122302426
5	POLR2A	chr4:122301253-122302809	SK-N-MC	brain:	n/a	n/a
6	MAX	chr4:122301364-122302467	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr4:122302243-122302593	IMR90	lung:	n/a	chr4:122302415-122302426
8	MYC	chr4:122301064-122302542	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr4:122302270-122302593	A549	lung:	n/a	chr4:122302415-122302426
10	CEBPB	chr4:122302332-122302494	ECC-1	luminal epithelium:	n/a	chr4:122302415-122302426
11	E2F6	chr4:122301833-122302471	A549	lung:	n/a	chr4:122302254-122302265 chr4:122302330-122302337
12	MYC	chr4:122302091-122302532	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr4:122301690-122302872	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXP2	chr4:122301976-122302442	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr4:122301030-122302853	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr4:122301415-122302499	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr4:122302250-122302592	HepG2	liver:	n/a	chr4:122302415-122302426
18	CEBPB	chr4:122302248-122302553	K562	blood:	n/a	chr4:122302415-122302426
19	E2F4	chr4:122301489-122302471	MCF10A-Er-Src	breast:	n/a	chr4:122302254-122302265 chr4:122301760-122301775 chr4:122302330-122302337
20	STAT3	chr4:122302253-122302726	MCF10A-Er-Src	breast:	n/a	n/a
21	CEBPB	chr4:122302361-122302482	Hela-S3	cervix:	n/a	chr4:122302415-122302426
22	CEBPB	chr4:122302251-122302514	MCF-7	breast:	n/a	chr4:122302415-122302426
23	RAD21	chr4:122302036-122302504	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr4:122301513-122302468	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:122301914-122302423	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122302421-122302471	LNCaP	prostate:	n/a
2	chr4:122302421-122302471	PFSK-1	brain:	n/a
3	chr4:122302421-122302471	K562	blood:	n/a
4	chr4:122302421-122302471	RPTEC	kidney:	n/a
5	chr4:122302421-122302471	HCM	heart:	n/a
6	chr4:122302421-122302471	GM12891	blood:	n/a
7	chr4:122302421-122302471	NHBE	bronchial:	n/a
8	chr4:122302421-122302471	HCPEpiC	choroid plexus:	n/a
9	chr4:122302421-122302471	HIPEpiC	eye:	n/a
10	chr4:122302421-122302471	PrEC	prostate:	n/a
11	chr4:122302421-122302471	PANC-1	pancreas:	n/a
12	chr4:122302421-122302471	ProgFib	skin:	n/a
13	chr4:122302421-122302471	HL-60	blood:	n/a
14	chr4:122302421-122302471	ECC-1	luminal epithelium:	n/a
15	chr4:122302421-122302471	AG10803	skin:	n/a
16	chr4:122302421-122302471	HUVEC	blood vessel:	n/a
17	chr4:122302421-122302471	A549	lung:	n/a
18	chr4:122302421-122302471	Hela-S3	cervix:	n/a
19	chr4:122302421-122302471	AG09309	skin:	n/a
20	chr4:122302421-122302471	HRPEpiC	eye:	n/a
21	chr4:122302421-122302471	AoSMC	blood vessel:	n/a
22	chr4:122302421-122302471	HMEC	breast:	n/a
23	chr4:122302421-122302471	HPAEpiC	pulmonary alveolar:	n/a
24	chr4:122302421-122302471	SAEC	small airway:	n/a
25	chr4:122302421-122302471	HNPCEpiC	eye:	n/a
26	chr4:122302421-122302471	AG04449	skin:	fetal
27	chr4:122302421-122302471	AG09319	gingival:	n/a
28	chr4:122302421-122302471	HCF	heart:	n/a
29	chr4:122302421-122302471	MCF10A-Er-Src	breast:	n/a
30	chr4:122302421-122302471	GM19239	blood:	n/a
31	chr4:122302421-122302471	T-47D	breast:	n/a
32	chr4:122302421-122302471	GM12892	blood:	n/a
33	chr4:122302421-122302471	Jurkat	blood:	n/a
34	chr4:122302421-122302471	Caco-2	colon:	n/a
35	chr4:122302421-122302471	BJ	skin:	n/a
36	chr4:122302421-122302471	HAEpiC	amniotic membrane:	n/a
37	chr4:122302421-122302471	Hepatocyte	liver:	n/a
38	chr4:122302421-122302471	HEEpiC	esophagus:	n/a
39	chr4:122302421-122302471	SK-N-SH_RA	brain:	n/a
40	chr4:122302421-122302471	NB4	blood:	n/a
41	chr4:122302421-122302471	AG04450	lung:	fetal
42	chr4:122302421-122302471	SK-N-SH	brain:	n/a
43	chr4:122302421-122302471	NH-A	brain:	n/a
44	chr4:122302421-122302471	GM06990	blood:	n/a
45	chr4:122302421-122302471	SK-N-MC	brain:	n/a
46	chr4:122302421-122302471	U87	brain:	n/a
47	chr4:122302421-122302471	MCF-7	breast:	n/a
48	chr4:122302421-122302471	BE2_C	brain:	n/a
49	chr4:122302421-122302471	HCT-116	colon:	n/a
50	chr4:122302421-122302471	GM12878	blood:	n/a

Variant related genes	Relation type
QRFPR	TF binding region
QRFPR	CpG island

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12642360	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435217	0.80[ASN][1000 genomes]
rs1513712	0.83[ASN][1000 genomes]
rs1713902	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2013332	0.97[ASN][1000 genomes]
rs506955	0.96[ASN][1000 genomes]
rs6534267	0.94[ASN][1000 genomes]
rs6534268	0.94[ASN][1000 genomes]
rs6828201	0.94[ASN][1000 genomes]
rs882865	0.83[AFR][1000 genomes]
rs9759756	0.83[ASN][1000 genomes]
rs9760672	0.83[ASN][1000 genomes]
rs9761531	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv508308	chr4:122278897-122312719	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122300200-122302800	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr4:122300800-122302600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr4:122301000-122302600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:122301000-122302600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr4:122301000-122302600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:122301600-122302800	Flanking Active TSS	HMEC	breast
7	chr4:122301800-122302800	Active TSS	Right Ventricle	heart
8	chr4:122302200-122302600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:122302200-122302600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr4:122302400-122302600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:122302400-122302600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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