Variant report

Variant	rs7953360
Chromosome Location	chr12:45684314-45684315
allele	A/C
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	STAT3	chr12:45683676-45684431	MCF10A-Er-Src	breast:	n/a	chr12:45684176-45684184
2	STAT3	chr12:45683940-45684439	MCF10A-Er-Src	breast:	n/a	chr12:45684176-45684184
3	MAX	chr12:45684029-45684385	NB4	blood:	n/a	chr12:45684212-45684222
4	FOS	chr12:45683943-45684433	MCF10A-Er-Src	breast:	n/a	chr12:45684144-45684151 chr12:45684144-45684152
5	CEBPB	chr12:45683951-45684348	MCF-7	breast:	n/a	n/a
6	CEBPB	chr12:45683963-45684448	MCF-7	breast:	n/a	chr12:45684352-45684363
7	MYC	chr12:45683859-45684382	MCF10A-Er-Src	breast:	n/a	chr12:45684212-45684222
8	GATA3	chr12:45683765-45684386	MCF-7	breast:	n/a	n/a
9	GATA3	chr12:45684029-45684347	T-47D	breast:	n/a	n/a
10	GATA3	chr12:45683975-45684458	MCF-7	breast:	n/a	n/a
11	FOSL2	chr12:45683906-45684364	MCF-7	breast:	n/a	chr12:45684144-45684151 chr12:45684144-45684152
12	FOXM1	chr12:45683950-45684482	MCF-7	breast:	n/a	n/a
13	NFYB	chr12:45683937-45684344	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr12:45683932-45684320	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr12:45683980-45684496	K562	blood:	n/a	chr12:45684352-45684363
16	FOS	chr12:45683924-45684410	MCF10A-Er-Src	breast:	n/a	chr12:45684144-45684151 chr12:45684144-45684152
17	STAT3	chr12:45683887-45684392	MCF10A-Er-Src	breast:	n/a	chr12:45684176-45684184
18	FOXM1	chr12:45683806-45684487	ECC-1	luminal epithelium:	n/a	n/a
19	MAX	chr12:45684096-45684339	K562	blood:	n/a	chr12:45684212-45684222
20	NR2F2	chr12:45683966-45684401	MCF-7	breast:	n/a	n/a
21	HDAC2	chr12:45684004-45684386	MCF-7	breast:	n/a	chr12:45684243-45684262 chr12:45684052-45684066 chr12:45684051-45684065
22	STAT3	chr12:45683998-45684416	MCF10A-Er-Src	breast:	n/a	chr12:45684176-45684184
23	MXI1	chr12:45683579-45685012	IMR90	lung:	n/a	n/a
24	EP300	chr12:45684017-45684452	MCF-7	breast:	n/a	n/a
25	MYC	chr12:45683942-45684429	MCF10A-Er-Src	breast:	n/a	chr12:45684212-45684222
26	SIN3AK20	chr12:45683951-45684467	MCF-7	breast:	n/a	n/a
27	CEBPB	chr12:45683941-45684417	Hela-S3	cervix:	n/a	chr12:45684352-45684363
28	STAT3	chr12:45683940-45684429	MCF10A-Er-Src	breast:	n/a	chr12:45684176-45684184
29	E2F4	chr12:45683896-45684343	MCF10A-Er-Src	breast:	n/a	n/a
30	NR3C1	chr12:45684018-45684383	A549	lung:	n/a	n/a
31	RCOR1	chr12:45684072-45684366	Hela-S3	cervix:	n/a	n/a
32	FOS	chr12:45683952-45684609	MCF10A-Er-Src	breast:	n/a	chr12:45684144-45684151 chr12:45684144-45684152
33	GATA3	chr12:45683847-45684554	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr12:45684206-45684341	ProgFib	skin:	n/a	n/a
35	MAX	chr12:45683984-45684449	MCF-7	breast:	n/a	chr12:45684212-45684222
36	HDAC2	chr12:45683972-45684418	MCF-7	breast:	n/a	chr12:45684243-45684262 chr12:45684052-45684066 chr12:45684051-45684065
37	MAFK	chr12:45684055-45684384	IMR90	lung:	n/a	n/a
38	MAFK	chr12:45684123-45684321	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr12:45684087-45684416	A549	lung:	n/a	chr12:45684352-45684363
40	CEBPB	chr12:45684222-45684512	HepG2	liver:	n/a	chr12:45684352-45684363
41	MAX	chr12:45684059-45684378	Hela-S3	cervix:	n/a	chr12:45684212-45684222
42	CEBPB	chr12:45683964-45684508	IMR90	lung:	n/a	chr12:45684352-45684363
43	FOS	chr12:45683925-45684401	MCF10A-Er-Src	breast:	n/a	chr12:45684144-45684151 chr12:45684144-45684152
44	TCF12	chr12:45684020-45684440	SK-N-SH	brain:	n/a	n/a
45	NR3C1	chr12:45683993-45684372	A549	lung:	n/a	n/a
46	MXI1	chr12:45684068-45684318	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45677743..45680287-chr12:45681430..45684437,3	MCF-7	breast:
2	chr12:45589220..45591342-chr12:45683683..45686226,2	K562	blood:

Variant related genes	Relation type
ANO6	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1004598	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1015625	0.83[AMR][1000 genomes]
rs1019584	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10467095	0.83[AMR][1000 genomes]
rs10748417	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10748418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748420	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10785559	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10785565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10880767	0.80[AMR][1000 genomes]
rs10880773	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11182971	1.00[AMR][1000 genomes]
rs11182980	0.83[AMR][1000 genomes]
rs1238407	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1862907	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1877972	1.00[AMR][1000 genomes]
rs1896027	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1913691	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2037855	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4140756	0.90[AMR][1000 genomes]
rs4489808	0.87[AFR][1000 genomes]
rs4768087	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4768604	1.00[AMR][1000 genomes]
rs4768606	0.83[AMR][1000 genomes]
rs6582542	0.86[AFR][1000 genomes]
rs6582543	1.00[AMR][1000 genomes]
rs7135029	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7304749	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7960422	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7970250	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7970619	1.00[AMR][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	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
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45662800-45685400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:45662800-45696800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:45668400-45697800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr12:45668600-45693000	Weak transcription	Pancreas	Pancrea
7	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:45674400-45692200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:45674600-45686400	Weak transcription	K562	blood
10	chr12:45675800-45709000	Weak transcription	Lung	lung
11	chr12:45676000-45686600	Weak transcription	Right Atrium	heart
12	chr12:45676200-45693000	Weak transcription	Fetal Stomach	stomach
13	chr12:45676400-45685600	Weak transcription	Primary B cells from cord blood	blood
14	chr12:45676400-45696000	Weak transcription	Fetal Thymus	thymus
15	chr12:45676400-45697800	Weak transcription	Dnd41	blood
16	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:45677000-45689800	Weak transcription	Liver	Liver
18	chr12:45677000-45696000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr12:45677600-45698200	Weak transcription	Primary T cells from cord blood	blood
20	chr12:45677800-45691800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:45677800-45696000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr12:45678400-45686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:45678400-45688000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:45678600-45686400	Weak transcription	Ovary	ovary
25	chr12:45678600-45691800	Weak transcription	HUVEC	blood vessel
26	chr12:45678800-45685600	Weak transcription	Adipose Nuclei	Adipose
27	chr12:45678800-45686400	Weak transcription	Fetal Lung	lung
28	chr12:45679200-45692200	Weak transcription	NHDF-Ad	bronchial
29	chr12:45679800-45684600	Weak transcription	Thymus	Thymus
30	chr12:45679800-45685600	Weak transcription	Fetal Heart	heart
31	chr12:45679800-45686400	Weak transcription	Aorta	Aorta
32	chr12:45679800-45686400	Weak transcription	Left Ventricle	heart
33	chr12:45679800-45692200	Weak transcription	NH-A	brain
34	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
35	chr12:45680200-45692600	Weak transcription	Fetal Intestine Large	intestine
36	chr12:45680400-45697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:45680800-45689400	Weak transcription	Placenta	Placenta
38	chr12:45680800-45693000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:45681000-45686200	Weak transcription	A549	lung
40	chr12:45681000-45698200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:45681200-45697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr12:45683000-45685000	Enhancers	NHEK	skin
43	chr12:45683200-45684400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:45683200-45684600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:45683200-45685400	Enhancers	GM12878-XiMat	blood
46	chr12:45683400-45686000	Enhancers	Rectal Smooth Muscle	rectum
47	chr12:45683400-45687200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:45683600-45684400	Enhancers	Hela-S3	cervix
49	chr12:45683600-45684400	Enhancers	HSMM	muscle
50	chr12:45683600-45684400	Enhancers	Osteobl	bone

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