Variant report

Variant	rs11182921
Chromosome Location	chr12:45614577-45614578
allele	A/G
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	CEBPB	chr12:45613972-45614774	Hela-S3	cervix:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
2	CEBPB	chr12:45614025-45614609	MCF-7	breast:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
3	CEBPB	chr12:45614119-45614616	ECC-1	luminal epithelium:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
4	CEBPB	chr12:45613974-45614647	MCF-7	breast:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
5	STAT3	chr12:45614039-45614625	MCF10A-Er-Src	breast:	n/a	chr12:45614292-45614300 chr12:45614377-45614400
6	CEBPB	chr12:45614147-45614582	H1-hESC	embryonic stem cell:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
7	MYC	chr12:45614065-45614633	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr12:45614137-45614800	HepG2	liver:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
9	CEBPB	chr12:45614048-45614685	A549	lung:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
10	STAT3	chr12:45614039-45614626	MCF10A-Er-Src	breast:	n/a	chr12:45614292-45614300 chr12:45614377-45614400
11	STAT3	chr12:45614114-45614604	MCF10A-Er-Src	breast:	n/a	chr12:45614292-45614300 chr12:45614377-45614400
12	STAT3	chr12:45614076-45614596	MCF10A-Er-Src	breast:	n/a	chr12:45614292-45614300 chr12:45614377-45614400
13	CEBPB	chr12:45614119-45614599	IMR90	lung:	n/a	chr12:45614289-45614300 chr12:45614290-45614301
14	FOS	chr12:45614115-45614624	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:45609724..45611735-chr12:45612584..45615895,4	MCF-7	breast:
2	chr12:45608077..45611445-chr12:45614195..45617130,4	K562	blood:
3	chr12:45613308..45615413-chr12:45619971..45621498,2	K562	blood:
4	chr12:45613975..45618238-chr12:45622905..45626980,4	MCF-7	breast:

Variant related genes	Relation type
PLEKHA8P1	TF binding region
ENSG00000134297	Chromatin interaction
ENSG00000177119	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10437984	0.91[EUR][1000 genomes]
rs10459293	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459294	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10459295	0.82[ASN][1000 genomes]
rs10492284	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785556	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785557	0.91[EUR][1000 genomes]
rs10880757	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10880758	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10880760	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880761	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10880762	0.91[EUR][1000 genomes]
rs10880763	0.91[EUR][1000 genomes]
rs10880764	0.91[EUR][1000 genomes]
rs10880765	0.82[ASN][1000 genomes]
rs10880766	0.82[ASN][1000 genomes]
rs11182898	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11182899	0.93[ASN][1000 genomes]
rs11182903	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182904	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11182905	0.81[EUR][1000 genomes]
rs11182908	0.81[EUR][1000 genomes]
rs11182912	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182913	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182915	0.83[AFR][1000 genomes]
rs11182916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182917	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182918	0.91[EUR][1000 genomes]
rs11182919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182922	0.91[EUR][1000 genomes]
rs11182923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182927	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182935	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11182936	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11182938	0.91[EUR][1000 genomes]
rs11182939	0.91[EUR][1000 genomes]
rs11182940	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182941	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11182942	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11182943	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11182944	0.91[EUR][1000 genomes]
rs11182946	0.91[EUR][1000 genomes]
rs11182947	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11182949	0.89[EUR][1000 genomes]
rs11182953	0.89[ASN][1000 genomes]
rs11182954	0.89[ASN][1000 genomes]
rs11182955	0.89[ASN][1000 genomes]
rs11182957	0.82[ASN][1000 genomes]
rs11561532	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11610233	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611509	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11612203	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614089	0.82[ASN][1000 genomes]
rs11615850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12226944	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12227678	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228399	0.82[ASN][1000 genomes]
rs12228733	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12230322	0.91[EUR][1000 genomes]
rs12231753	0.81[EUR][1000 genomes]
rs12299174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12320168	0.91[EUR][1000 genomes]
rs12320437	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322087	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12814332	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12815115	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12815334	0.89[ASN][1000 genomes]
rs12815723	0.89[ASN][1000 genomes]
rs12818421	0.86[ASN][1000 genomes]
rs12822746	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828052	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17095551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17095557	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052602	0.91[EUR][1000 genomes]
rs2052603	0.89[EUR][1000 genomes]
rs2408184	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34024171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35032811	0.82[ASN][1000 genomes]
rs35054776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35588430	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35660715	0.91[EUR][1000 genomes]
rs3759077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759080	0.91[EUR][1000 genomes]
rs3759081	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57560057	0.89[ASN][1000 genomes]
rs57797434	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923810	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61923825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61923830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138983	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7954282	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7963038	0.91[EUR][1000 genomes]
rs7963057	0.91[EUR][1000 genomes]
rs9739519	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45611000-45617600	Weak transcription	Gastric	stomach
2	chr12:45611000-45624800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:45611200-45614600	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:45611200-45614800	Weak transcription	Pancreas	Pancrea
5	chr12:45611200-45628000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:45611400-45614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:45611400-45615800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:45611600-45629400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:45611800-45615200	Enhancers	Fetal Lung	lung
10	chr12:45611800-45615600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:45611800-45615600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:45611800-45624800	Weak transcription	HSMM	muscle
13	chr12:45612000-45614600	Enhancers	Hela-S3	cervix
14	chr12:45612000-45614800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:45612000-45615600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:45612000-45617600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:45612200-45614800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:45612200-45614800	Enhancers	Fetal Stomach	stomach
19	chr12:45612200-45615000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:45612200-45615000	Enhancers	Placenta	Placenta
21	chr12:45612200-45615400	Enhancers	Colon Smooth Muscle	Colon
22	chr12:45612200-45615400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:45612200-45617800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:45612200-45621200	Weak transcription	Fetal Brain Female	brain
25	chr12:45612400-45614800	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:45612400-45615400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr12:45612400-45617800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:45612400-45624800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr12:45612400-45624800	Weak transcription	Osteobl	bone
30	chr12:45612400-45628000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:45612600-45614600	Enhancers	Thymus	Thymus
32	chr12:45612600-45614800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr12:45612600-45615000	Enhancers	Fetal Intestine Large	intestine
34	chr12:45612600-45615000	Enhancers	NHEK	skin
35	chr12:45612600-45615200	Enhancers	HMEC	breast
36	chr12:45612600-45616600	Weak transcription	K562	blood
37	chr12:45612600-45621200	Weak transcription	Brain Germinal Matrix	brain
38	chr12:45613000-45614800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:45613000-45616600	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:45613200-45614800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:45613200-45614800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:45613200-45614800	Enhancers	Right Atrium	heart
43	chr12:45613200-45615200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:45613200-45615600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr12:45613200-45615600	Enhancers	Ovary	ovary
46	chr12:45613200-45622400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:45613400-45614600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:45613400-45615000	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr12:45613400-45615200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr12:45613400-45615600	Enhancers	Aorta	Aorta

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