Variant report

Variant	rs12285245
Chromosome Location	chr11:63570347-63570348
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	POLR2A	chr11:63570261-63571002	PFSK-1	brain:	n/a	n/a
2	USF1	chr11:63570137-63571043	HCT-116	colon:	n/a	chr11:63570579-63570590
3	STAT3	chr11:63570078-63570975	MCF10A-Er-Src	breast:	n/a	n/a
4	KAP1	chr11:63570259-63571133	U2OS	brain:	n/a	n/a
5	IRF3	chr11:63570328-63570890	Hela-S3	cervix:	n/a	n/a
6	BRCA1	chr11:63570111-63570940	Hela-S3	cervix:	n/a	n/a
7	STAT3	chr11:63570084-63570963	MCF10A-Er-Src	breast:	n/a	n/a
8	CBX3	chr11:63570187-63570942	K562	blood:	n/a	n/a
9	NFYA	chr11:63570265-63570799	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr11:63570192-63570409	HepG2	liver:	n/a	n/a
11	NFYB	chr11:63570336-63570692	GM12878	blood:	n/a	chr11:63570563-63570578
12	TFAP2A	chr11:63570107-63570895	Hela-S3	cervix:	n/a	chr11:63570443-63570458
13	EP300	chr11:63570121-63570941	Hela-S3	cervix:	n/a	n/a
14	SETDB1	chr11:63570219-63570866	U2OS	brain:	n/a	n/a
15	FOS	chr11:63570039-63570984	MCF10A-Er-Src	breast:	n/a	chr11:63570190-63570199
16	MAX	chr11:63570188-63571049	Hela-S3	cervix:	n/a	chr11:63570579-63570589
17	CEBPB	chr11:63570107-63570716	A549	lung:	n/a	n/a
18	TAF1	chr11:63570247-63570866	PFSK-1	brain:	n/a	n/a
19	MYC	chr11:63570102-63570911	MCF10A-Er-Src	breast:	n/a	chr11:63570579-63570589
20	MAX	chr11:63570160-63571121	HCT-116	colon:	n/a	chr11:63570579-63570589
21	MAX	chr11:63570174-63570988	A549	lung:	n/a	chr11:63570579-63570589
22	FOSL2	chr11:63570022-63571038	A549	lung:	n/a	chr11:63570190-63570199
23	ZNF384	chr11:63570177-63570839	K562	blood:	n/a	n/a
24	POLR2A	chr11:63570149-63571033	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:63570215-63570934	PFSK-1	brain:	n/a	n/a
26	RAD21	chr11:63570182-63570969	Hela-S3	cervix:	n/a	n/a
27	SMC3	chr11:63570208-63570885	Hela-S3	cervix:	n/a	n/a
28	USF1	chr11:63570112-63571089	HCT-116	colon:	n/a	chr11:63570579-63570590
29	MAX	chr11:63570205-63570993	ECC-1	luminal epithelium:	n/a	chr11:63570579-63570589
30	MYC	chr11:63570164-63570891	Hela-S3	cervix:	n/a	chr11:63570579-63570589
31	FOS	chr11:63570115-63570968	Hela-S3	cervix:	n/a	chr11:63570190-63570199
32	TCF7L2	chr11:63570157-63571046	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:63570112-63571111	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr11:63570059-63570973	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr11:63570156-63571026	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:63570154-63570399	A549	lung:	n/a	n/a
37	GTF2F1	chr11:63570146-63570865	Hela-S3	cervix:	n/a	n/a
38	USF1	chr11:63570296-63570975	ECC-1	luminal epithelium:	n/a	chr11:63570579-63570590
39	RCOR1	chr11:63570109-63570939	Hela-S3	cervix:	n/a	n/a
40	NR2F2	chr11:63570133-63570988	MCF-7	breast:	n/a	n/a
41	MAX	chr11:63570263-63570965	MCF-7	breast:	n/a	chr11:63570579-63570589
42	MAX	chr11:63570243-63570965	ECC-1	luminal epithelium:	n/a	chr11:63570579-63570589
43	POLR2A	chr11:63570131-63571111	Hela-S3	cervix:	n/a	n/a
44	TFAP2C	chr11:63570188-63570911	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:63570100-63570439	IMR90	lung:	n/a	n/a
46	TBP	chr11:63570160-63570920	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr11:63570172-63570933	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr11:63570103-63571001	MCF10A-Er-Src	breast:	n/a	n/a
49	MAX	chr11:63570136-63571058	Hela-S3	cervix:	n/a	chr11:63570579-63570589
50	JUN	chr11:63570068-63571278	K562	blood:	n/a	chr11:63570190-63570199

No.	Distal block	Cell Line	Cell type
1	chr11:63570205..63572019-chr11:63580900..63582897,2	MCF-7	breast:
2	chr11:63568932..63571893-chr11:63593228..63594762,2	MCF-7	breast:
3	chr11:63568859..63571826-chr11:63579605..63584324,5	K562	blood:
4	chr11:63535611..63537592-chr11:63569044..63572004,3	MCF-7	breast:
5	chr10:38145568..38146527-chr11:63570146..63570678,2	Hela-S3	cervix:
6	chr11:63534835..63538239-chr11:63570214..63572925,3	MCF-7	breast:
7	chr11:63569863..63570705-chr11:63580756..63581280,2	Hela-S3	cervix:
8	chr11:63569529..63574543-chr11:63580305..63583483,5	MCF-7	breast:

Variant related genes	Relation type
RN7SL596P	TF binding region
ENSG00000168005	Chromatin interaction
ENSG00000255651	Chromatin interaction
ENSG00000198105	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10897448	0.86[AFR][1000 genomes]
rs12278871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12283898	0.89[ASW][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs12291587	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2957205	0.92[ASN][1000 genomes]
rs2959885	0.92[ASN][1000 genomes]
rs3016160	0.92[ASN][1000 genomes]
rs320115	1.00[MEX][hapmap]
rs3740635	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs510804	0.92[ASN][1000 genomes]
rs580155	1.00[ASN][1000 genomes]
rs598301	1.00[ASN][1000 genomes]
rs623539	0.92[ASN][1000 genomes]
rs7113873	0.92[ASN][1000 genomes]
rs7129685	1.00[MEX][hapmap]
rs73492249	1.00[ASN][1000 genomes]
rs73492251	1.00[ASN][1000 genomes]
rs73492252	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3413647	chr11:63550425-63582789	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63565000-63573800	Weak transcription	Right Atrium	heart
2	chr11:63567600-63580000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:63568200-63570400	Weak transcription	Brain Germinal Matrix	brain
4	chr11:63569600-63575800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:63569800-63571400	Flanking Active TSS	Hela-S3	cervix
6	chr11:63569800-63575000	Enhancers	Placenta	Placenta
7	chr11:63570000-63571200	Enhancers	HMEC	breast
8	chr11:63570000-63571800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr11:63570200-63570400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:63570200-63570400	Enhancers	Osteobl	bone
11	chr11:63570200-63570600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:63570200-63570600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:63570200-63570800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:63570200-63570800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:63570200-63570800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:63570200-63570800	Enhancers	HepG2	liver
17	chr11:63570200-63570800	Flanking Active TSS	NHEK	skin
18	chr11:63570200-63571000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:63570200-63571000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:63570200-63571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:63570200-63571000	Flanking Active TSS	A549	lung
22	chr11:63570200-63571000	Enhancers	HSMMtube	muscle
23	chr11:63570200-63571000	Enhancers	NHDF-Ad	bronchial
24	chr11:63570200-63571200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:63570200-63571200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:63570200-63571200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:63570200-63571200	Enhancers	HSMM	muscle
28	chr11:63570200-63571200	Enhancers	K562	blood
29	chr11:63570200-63572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:63570200-63572600	Enhancers	Fetal Intestine Small	intestine
31	chr11:63570200-63576800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links