Variant report

Variant	rs12224472
Chromosome Location	chr11:119996098-119996099
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	FOSL1	chr11:119995385-119996181	HCT-116	colon:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995817-119995828 chr11:119995852-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827
2	TCF7L2	chr11:119995651-119996106	HCT-116	colon:	n/a	chr11:119995853-119995862
3	FOSL1	chr11:119995546-119996151	HCT-116	colon:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995817-119995828 chr11:119995852-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827
4	MAX	chr11:119995639-119996212	MCF-7	breast:	n/a	n/a
5	CEBPB	chr11:119995582-119996342	Hela-S3	cervix:	n/a	chr11:119996193-119996204
6	JUND	chr11:119995503-119996214	HCT-116	colon:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995852-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827 chr11:119995817-119995828
7	JUND	chr11:119995474-119996188	HCT-116	colon:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995852-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827 chr11:119995817-119995828
8	TBP	chr11:119995693-119996126	Hela-S3	cervix:	n/a	n/a
9	TFAP2A	chr11:119995558-119996203	Hela-S3	cervix:	n/a	chr11:119995908-119995923 chr11:119995962-119995973 chr11:119995853-119995862
10	CEBPB	chr11:119996029-119996257	HepG2	liver:	n/a	chr11:119996193-119996204
11	FOSL2	chr11:119995563-119996138	MCF-7	breast:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995851-119995862 chr11:119995819-119995827 chr11:119995816-119995827
12	TCF7L2	chr11:119995551-119996249	Hela-S3	cervix:	n/a	chr11:119996217-119996224 chr11:119996214-119996224 chr11:119995853-119995862 chr11:119996215-119996224
13	SMARCC1	chr11:119991833-119996186	Hela-S3	cervix:	n/a	chr11:119993842-119993851 chr11:119995853-119995862 chr11:119993841-119993850 chr11:119994713-119994722
14	POLR2A	chr11:119995863-119996138	MCF10A-Er-Src	breast:	n/a	n/a
15	JUN	chr11:119995381-119996255	K562	blood:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827
16	RCOR1	chr11:119995538-119996151	Hela-S3	cervix:	n/a	n/a
17	JUND	chr11:119995626-119996122	Hela-S3	cervix:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995852-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827 chr11:119995817-119995828
18	MAX	chr11:119995575-119996133	Hela-S3	cervix:	n/a	n/a
19	NR3C1	chr11:119995524-119996198	A549	lung:	n/a	chr11:119995808-119995821 chr11:119995853-119995862 chr11:119995854-119995863
20	NR2F2	chr11:119995524-119996211	MCF-7	breast:	n/a	chr11:119995796-119995811
21	TFAP2C	chr11:119995477-119996207	Hela-S3	cervix:	n/a	chr11:119995959-119995974
22	SMC3	chr11:119995671-119996163	Hela-S3	cervix:	n/a	chr11:119996013-119996020
23	FOS	chr11:119995651-119996130	Hela-S3	cervix:	n/a	chr11:119995819-119995827 chr11:119995817-119995829 chr11:119995854-119995863 chr11:119995851-119995859 chr11:119995819-119995826 chr11:119995853-119995862 chr11:119995819-119995827
24	RAD21	chr11:119995652-119996109	Hela-S3	cervix:	n/a	n/a
25	MYC	chr11:119995641-119996150	Hela-S3	cervix:	n/a	n/a
26	SIN3AK20	chr11:119995533-119996286	MCF-7	breast:	n/a	n/a
27	ZKSCAN1	chr11:119995686-119996106	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr11:119995607-119996103	Hela-S3	cervix:	n/a	n/a
29	MYC	chr11:119995763-119996098	MCF10A-Er-Src	breast:	n/a	n/a
30	RFX5	chr11:119995635-119996107	Hela-S3	cervix:	n/a	n/a
31	MAX	chr11:119995615-119996164	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:119996083-119996120	Hela-S3	cervix:	n/a	n/a
33	NR2F2	chr11:119995541-119996148	MCF-7	breast:	n/a	chr11:119995796-119995811

No.	Distal block	Cell Line	Cell type
1	chr11:119995303..119997544-chr11:119999140..120002182,3	MCF-7	breast:
2	chr11:119994516..119997307-chr11:120107170..120108750,2	MCF-7	breast:
3	chr11:119990218..119993185-chr11:119994723..119998416,4	K562	blood:
4	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
5	chr11:119994653..119996281-chr11:120031223..120034456,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10790369	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892544	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10892545	0.84[AMR][1000 genomes]
rs11217699	0.87[ASN][1000 genomes]
rs11217701	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11217702	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217705	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217706	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217707	0.89[AMR][1000 genomes]
rs11217708	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217710	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217711	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217713	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217715	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217716	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217718	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217719	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217720	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217721	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217722	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217723	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217724	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217725	1.00[EUR][1000 genomes]
rs11217726	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217727	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217728	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217729	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217730	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217731	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217732	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217733	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217734	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217735	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217736	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217737	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217738	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217739	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217740	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217741	1.00[EUR][1000 genomes]
rs11217742	1.00[EUR][1000 genomes]
rs11217743	1.00[EUR][1000 genomes]
rs11217744	1.00[EUR][1000 genomes]
rs11217745	0.84[AMR][1000 genomes]
rs11217746	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217748	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217749	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217750	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217751	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217753	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11217754	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11535714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12049837	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12224041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12225418	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12274981	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12281157	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12283165	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291620	0.84[AMR][1000 genomes]
rs12417084	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417094	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12417234	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12418352	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419511	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419830	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12419976	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12419985	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12420985	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421218	0.89[AMR][1000 genomes]
rs12422179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34981150	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740728	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740729	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740730	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3740731	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3781667	0.87[ASN][1000 genomes]
rs3781668	0.87[ASN][1000 genomes]
rs3781669	0.87[ASN][1000 genomes]
rs679074	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118957	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119349	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7119458	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119991200-119996600	Enhancers	Placenta	Placenta
2	chr11:119991200-119997000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:119991200-119999000	Genic enhancers	HMEC	breast
4	chr11:119993400-119998800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:119993400-119998800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:119993400-119999800	Weak transcription	Fetal Thymus	thymus
7	chr11:119993400-120000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:119993800-119996800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:119993800-119996800	Genic enhancers	Esophagus	oesophagus
10	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
11	chr11:119994200-119997600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:119994400-119996200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:119994400-119996800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:119994400-119998800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr11:119994600-119998600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:119994600-119998800	Weak transcription	Fetal Intestine Large	intestine
17	chr11:119994800-119996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:119994800-119996800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:119995000-119996200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:119995000-119996800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:119995200-119996200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:119995200-120000200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:119995400-119996200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:119995400-119996200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:119995400-119996200	Enhancers	NHDF-Ad	bronchial
26	chr11:119995600-119996200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:119995600-119996200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr11:119995600-119996200	Flanking Active TSS	Hela-S3	cervix
29	chr11:119995600-119996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:119995800-119996200	Transcr. at gene 5' and 3'	NHEK	skin
31	chr11:119996000-119996200	Bivalent Enhancer	K562	blood
32	chr11:119996000-119998800	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links