Variant report

Variant	rs2720043
Chromosome Location	chr12:122111209-122111210
allele	G/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	MYC	chr12:122111131-122111477	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:122111134-122111592	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:122111195-122111276	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr12:122111202-122111220	HUVEC	blood vessel:	n/a	n/a
5	STAT3	chr12:122111078-122111645	MCF10A-Er-Src	breast:	n/a	chr12:122111262-122111273
6	MXI1	chr12:122109738-122111743	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:122111042-122111341	HCT-116	colon:	n/a	n/a
8	CEBPB	chr12:122111135-122111347	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr12:122111002-122111241	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:122110607-122111367	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr12:122111065-122111397	HL-60	blood:	n/a	n/a
12	STAT3	chr12:122111074-122111672	MCF10A-Er-Src	breast:	n/a	chr12:122111262-122111273
13	STAT3	chr12:122111064-122111692	MCF10A-Er-Src	breast:	n/a	chr12:122111262-122111273
14	STAT3	chr12:122111073-122111737	MCF10A-Er-Src	breast:	n/a	chr12:122111262-122111273
15	FOS	chr12:122111154-122111650	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr12:122111161-122111650	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122062970..122066467-chr12:122109966..122112755,3	MCF-7	breast:
2	chr12:121986936..121988892-chr12:122109089..122111571,2	MCF-7	breast:
3	chr12:122063149..122066007-chr12:122110767..122112513,2	MCF-7	breast:

Variant related genes	Relation type
MORN3	TF binding region
ENSG00000089094	Chromatin interaction
ENSG00000182500	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2458403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2466143	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2720032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2942369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4981002	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs907694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122103200-122116000	Weak transcription	K562	blood
2	chr12:122109800-122111400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:122110000-122111400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:122110000-122111400	Enhancers	Spleen	Spleen
5	chr12:122110200-122111600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:122110400-122111400	Enhancers	Fetal Heart	heart
7	chr12:122110600-122111400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr12:122110600-122111400	Flanking Active TSS	HepG2	liver
9	chr12:122110800-122111400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122110800-122111400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:122110800-122111400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr12:122110800-122111400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:122110800-122111400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr12:122110800-122111400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:122110800-122111400	Enhancers	Brain Angular Gyrus	brain
16	chr12:122110800-122111400	Enhancers	Esophagus	oesophagus
17	chr12:122110800-122111400	Enhancers	Fetal Brain Male	brain
18	chr12:122110800-122111400	Enhancers	Fetal Muscle Leg	muscle
19	chr12:122110800-122111400	Enhancers	Lung	lung
20	chr12:122110800-122111400	Enhancers	Psoas Muscle	Psoas
21	chr12:122110800-122111400	Flanking Active TSS	Hela-S3	cervix
22	chr12:122110800-122111400	Enhancers	HMEC	breast
23	chr12:122110800-122111400	Flanking Active TSS	NHEK	skin
24	chr12:122110800-122111600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr12:122110800-122111800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:122110800-122111800	Enhancers	Brain Substantia Nigra	brain
27	chr12:122111000-122111400	Enhancers	H1 Cell Line	embryonic stem cell
28	chr12:122111000-122111400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:122111000-122111400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:122111000-122111400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:122111000-122111400	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:122111000-122111400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:122111000-122111400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:122111000-122111400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:122111000-122111400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:122111000-122111400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:122111000-122111400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:122111000-122111400	Enhancers	Brain Anterior Caudate	brain
39	chr12:122111000-122111400	Flanking Active TSS	Brain Hippocampus Middle	brain
40	chr12:122111000-122111400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr12:122111000-122111400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:122111000-122111400	Enhancers	Fetal Intestine Small	intestine
43	chr12:122111000-122111400	Weak transcription	Fetal Kidney	kidney
44	chr12:122111000-122111400	Enhancers	Fetal Muscle Trunk	muscle
45	chr12:122111000-122111400	Enhancers	Fetal Stomach	stomach
46	chr12:122111000-122111400	Enhancers	Fetal Thymus	thymus
47	chr12:122111000-122111400	Enhancers	Left Ventricle	heart
48	chr12:122111000-122111400	Enhancers	Pancreas	Pancrea
49	chr12:122111000-122111400	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:122111000-122111400	Enhancers	Rectal Smooth Muscle	rectum

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