Variant report

Variant	rs7132030
Chromosome Location	chr12:4867620-4867621
allele	C/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	CTCF	chr12:4867231-4867738	HCT-116	colon:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
2	CTCF	chr12:4867330-4867645	SK-N-SH_RA	brain:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
3	RAD21	chr12:4867145-4867690	A549	lung:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
4	RAD21	chr12:4867246-4867723	MCF-7	breast:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
5	RAD21	chr12:4867243-4867709	ECC-1	luminal epithelium:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
6	CTCF	chr12:4867247-4867670	GM12878	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
7	SMC3	chr12:4867255-4867651	Hela-S3	cervix:	n/a	chr12:4867449-4867463
8	RAD21	chr12:4867254-4867639	Hela-S3	cervix:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
9	RAD21	chr12:4867214-4867716	H1-hESC	embryonic stem cell:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
10	RAD21	chr12:4867291-4867635	A549	lung:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
11	WRNIP1	chr12:4867474-4867640	GM12878	blood:	n/a	n/a
12	RAD21	chr12:4867265-4867635	IMR90	lung:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
13	CTCF	chr12:4867343-4867698	K562	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
14	CTCF	chr12:4867330-4867625	LNCaP	prostate:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
15	RAD21	chr12:4867058-4867734	SK-N-SH	brain:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
16	CTCF	chr12:4867196-4867676	A549	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
17	CTCF	chr12:4867277-4867715	MCF-7	breast:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
18	RAD21	chr12:4867268-4867666	GM12878	blood:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
19	CTCF	chr12:4867329-4867628	Spleen_OC	spleen:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
20	RAD21	chr12:4867181-4867647	H1-hESC	embryonic stem cell:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
21	FOXA2	chr12:4867260-4867756	A549	lung:	n/a	n/a
22	RAD21	chr12:4867182-4867698	HCT-116	colon:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
23	CTCF	chr12:4867256-4867652	IMR90	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
24	RAD21	chr12:4867275-4867715	ECC-1	luminal epithelium:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
25	SMC3	chr12:4867112-4867862	SK-N-SH	brain:	n/a	chr12:4867449-4867463
26	CTCF	chr12:4867019-4867887	A549	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
27	ZNF143	chr12:4867284-4867645	GM12878	blood:	n/a	n/a
28	RAD21	chr12:4867203-4867724	A549	lung:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
29	CTCF	chr12:4867033-4867868	SK-N-SH	brain:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
30	CTCF	chr12:4867309-4867638	A549	lung:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463
31	SMC3	chr12:4867278-4867635	HepG2	liver:	n/a	chr12:4867449-4867463
32	SMC3	chr12:4867242-4867654	GM12878	blood:	n/a	chr12:4867449-4867463
33	RAD21	chr12:4867176-4867719	MCF-7	breast:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
34	RAD21	chr12:4867108-4867781	HCT-116	colon:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
35	CTCF	chr12:4867500-4867650	HAc	cerebellar:	n/a	n/a
36	RAD21	chr12:4867244-4867643	H1-hESC	embryonic stem cell:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
37	RAD21	chr12:4867250-4867638	HepG2	liver:	n/a	chr12:4867455-4867462 chr12:4867445-4867464
38	CTCF	chr12:4867265-4867652	K562	blood:	n/a	chr12:4867448-4867464 chr12:4867447-4867465 chr12:4867442-4867463

No.	Distal block	Cell Line	Cell type
1	chr12:4530354..4531235-chr12:4867040..4867907,2	K562	blood:
2	chr12:4688558..4689492-chr12:4866939..4867957,4	MCF-7	breast:
3	chr12:4864992..4867674-chr12:4869599..4872090,2	K562	blood:
4	chr12:4713629..4714455-chr12:4867005..4867928,2	MCF-7	breast:

Variant related genes	Relation type
GALNT8	TF binding region
ENSG00000272921	Chromatin interaction
ENSG00000010219	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10047570	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1009633	0.87[CHB][hapmap];0.80[JPT][hapmap]
rs10160902	0.87[ASN][1000 genomes]
rs10431361	0.95[ASN][1000 genomes]
rs10431362	0.93[ASN][1000 genomes]
rs10774256	0.81[CHB][hapmap]
rs10774267	0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10849125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849126	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849128	0.85[ASN][1000 genomes]
rs10849129	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849130	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849133	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10849137	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849138	0.96[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs10849139	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10849143	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11063314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063318	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11063323	0.82[EUR][1000 genomes]
rs11063327	0.99[ASN][1000 genomes]
rs11063328	0.97[ASN][1000 genomes]
rs11063331	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12296205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12312983	0.82[CEU][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12320374	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12422704	0.82[CEU][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1468556	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17783373	0.87[ASN][1000 genomes]
rs2109099	0.87[ASN][1000 genomes]
rs2109100	0.87[ASN][1000 genomes]
rs2159354	0.88[ASN][1000 genomes]
rs2159355	0.88[ASN][1000 genomes]
rs2191157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240762	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2267552	0.86[CHB][hapmap]
rs2286578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286581	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs2286582	0.86[CHB][hapmap];0.89[ASN][1000 genomes]
rs2359466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35049745	0.87[ASN][1000 genomes]
rs3782740	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782742	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4765779	0.87[ASN][1000 genomes]
rs4765780	0.84[ASN][1000 genomes]
rs4765781	0.86[ASN][1000 genomes]
rs4765782	0.96[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs4766272	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs4766276	0.87[ASN][1000 genomes]
rs4766278	0.87[ASN][1000 genomes]
rs4766279	0.87[ASN][1000 genomes]
rs4766280	0.87[ASN][1000 genomes]
rs4766281	0.87[ASN][1000 genomes]
rs4766282	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4766283	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs4766286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489558	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs6489560	0.95[CHB][hapmap]
rs6489565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489566	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489567	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7136583	0.81[ASN][1000 genomes]
rs7137040	0.87[ASN][1000 genomes]
rs7137660	0.87[ASN][1000 genomes]
rs7295230	0.99[ASN][1000 genomes]
rs7295251	0.99[ASN][1000 genomes]
rs7297290	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305387	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306235	0.87[ASN][1000 genomes]
rs7311475	0.87[ASN][1000 genomes]
rs7311675	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7311694	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.99[ASN][1000 genomes]
rs7312119	0.87[ASN][1000 genomes]
rs7314849	0.99[ASN][1000 genomes]
rs7315211	1.00[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs7316209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7953399	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.99[ASN][1000 genomes]
rs7953482	0.99[ASN][1000 genomes]
rs7966628	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7967117	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7970126	0.94[ASN][1000 genomes]
rs7972019	0.87[ASN][1000 genomes]
rs7972501	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs7975978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976011	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976219	0.89[ASN][1000 genomes]
rs929481	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9300304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][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	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1054218	chr12:4819576-4882667	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4834000-4870200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:4836400-4872400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:4845000-4872600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:4852400-4872400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:4854200-4876000	Weak transcription	Fetal Brain Male	brain
6	chr12:4854600-4869600	Weak transcription	Brain Germinal Matrix	brain
7	chr12:4862600-4869600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:4863400-4870200	Weak transcription	Fetal Brain Female	brain
9	chr12:4864600-4872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:4867200-4880200	Weak transcription	Spleen	Spleen
11	chr12:4867400-4867800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr12:4867400-4872600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:4867600-4872400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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