Variant report

Variant	rs7296982
Chromosome Location	chr12:22274436-22274437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:22274235-22274479	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr12:22274231-22274490	GM12892	blood:	n/a	n/a
3	RUNX3	chr12:22274245-22274488	GM12878	blood:	n/a	n/a
4	CTCF	chr12:22274242-22274457	K562	blood:	n/a	n/a
5	RAD21	chr12:22274233-22274463	K562	blood:	n/a	n/a
6	RAD21	chr12:22274245-22274469	GM12878	blood:	n/a	n/a
7	RAD21	chr12:22274193-22274570	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr12:22274300-22274450	GM12878	blood:	n/a	n/a
9	SMC3	chr12:22274197-22274511	GM12878	blood:	n/a	n/a
10	MYC	chr12:22274255-22274486	K562	blood:	n/a	chr12:22274303-22274313
11	RAD21	chr12:22274123-22274656	MCF-7	breast:	n/a	n/a
12	CTCF	chr12:22274300-22274450	AG09319	gingival:	n/a	n/a
13	CTCF	chr12:22274240-22274486	T-47D	breast:	n/a	n/a
14	ZNF143	chr12:22274218-22274488	GM12878	blood:	n/a	n/a
15	CTCF	chr12:22274242-22274494	K562	blood:	n/a	n/a
16	CTCF	chr12:22274197-22274583	K562	blood:	n/a	n/a
17	CTCF	chr12:22274300-22274450	BE2_C	brain:	n/a	n/a
18	CTCF	chr12:22274234-22274467	Spleen_OC	spleen:	n/a	n/a
19	MYC	chr12:22274232-22274478	MCF-7	breast:	n/a	chr12:22274303-22274313
20	CTCF	chr12:22274320-22274470	HepG2	liver:	n/a	n/a
21	CTCF	chr12:22274300-22274450	GM12875	blood:	n/a	n/a
22	MAX	chr12:22274182-22274470	NB4	blood:	n/a	chr12:22274303-22274313
23	MAX	chr12:22274346-22274442	A549	lung:	n/a	n/a
24	CTCF	chr12:22274226-22274490	GM12878	blood:	n/a	n/a
25	CTCF	chr12:22274300-22274450	HMF	breast:	n/a	n/a
26	RAD21	chr12:22274294-22274518	A549	lung:	n/a	n/a
27	CTCF	chr12:22274360-22274510	HFF-Myc	foreskin:	n/a	n/a
28	CTCF	chr12:22274177-22274523	K562	blood:	n/a	n/a
29	CTCF	chr12:22274206-22274493	HepG2	liver:	n/a	n/a
30	RAD21	chr12:22274098-22274680	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr12:22274217-22274540	H1-hESC	embryonic stem cell:	n/a	chr12:22274303-22274313
32	RAD21	chr12:22274161-22274620	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:22274148-22274574	MCF-7	breast:	n/a	chr12:22274303-22274313
34	CTCF	chr12:22274340-22274490	HVMF	connective:	n/a	n/a
35	CTCF	chr12:22274212-22274529	MCF-7	breast:	n/a	n/a
36	RAD21	chr12:22274224-22274446	SK-N-SH_RA	brain:	n/a	n/a
37	RAD21	chr12:22274169-22274579	HepG2	liver:	n/a	n/a
38	MYC	chr12:22274244-22274467	MCF-7	breast:	n/a	chr12:22274303-22274313
39	CTCF	chr12:22274214-22274507	A549	lung:	n/a	n/a
40	MAX	chr12:22274220-22274471	K562	blood:	n/a	chr12:22274303-22274313
41	CTCF	chr12:22274300-22274450	GM12866	blood:	n/a	n/a
42	CTCF	chr12:22274236-22274494	NHEK	skin:	n/a	n/a
43	RAD21	chr12:22274155-22274611	ECC-1	luminal epithelium:	n/a	n/a
44	MYC	chr12:22274326-22274474	NB4	blood:	n/a	n/a
45	BACH1	chr12:22274309-22274513	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:22274300-22274450	HCFaa	heart:	n/a	n/a
47	ZNF143	chr12:22274209-22274521	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:22274300-22274450	GM12873	blood:	n/a	n/a
49	CTCF	chr12:22274283-22274466	A549	lung:	n/a	n/a
50	CTCF	chr12:22274300-22274450	BJ	skin:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:22271935..22274446-chr12:22277944..22279474,2	K562	blood:
2	chr12:22273884..22274876-chr12:22325749..22326717,3	MCF-7	breast:
3	chr12:22273739..22274482-chr12:22488299..22489087,2	MCF-7	breast:
4	chr12:22274157..22274855-chr12:22488371..22489172,4	MCF-7	breast:

No data

Variant related genes	Relation type
ST8SIA1	TF binding region
ENSG00000111728	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10492281	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770890	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10770891	0.83[ASN][1000 genomes]
rs11046301	0.83[ASN][1000 genomes]
rs11502435	0.96[EUR][1000 genomes]
rs12303121	0.88[ASN][1000 genomes]
rs12306254	0.89[ASN][1000 genomes]
rs12829732	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831501	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861710	0.82[ASN][1000 genomes]
rs2080551	0.80[ASN][1000 genomes]
rs2080554	0.83[ASN][1000 genomes]
rs2193382	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2193384	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2193385	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2193386	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2193387	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900495	0.84[ASN][1000 genomes]
rs2909067	0.84[ASN][1000 genomes]
rs2955495	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2970797	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34299716	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34533494	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35253752	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35683388	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36064966	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3937473	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6487285	0.83[ASN][1000 genomes]
rs7138641	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71448629	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7300750	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304110	0.84[ASN][1000 genomes]
rs7304537	0.81[ASN][1000 genomes]
rs7968893	0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7969364	0.83[ASN][1000 genomes]
rs9783526	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22274000-22274600	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:22274000-22274600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr12:22274000-22274600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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