Variant report

Variant	rs183283
Chromosome Location	chr12:121582240-121582241
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	MAZ	chr12:121581639-121582499	IMR90	lung:	n/a	n/a
2	RUNX3	chr12:121582193-121582875	GM12878	blood:	n/a	n/a
3	EP300	chr12:121582227-121582834	Hela-S3	cervix:	n/a	n/a
4	TCF7L2	chr12:121581767-121582652	HCT-116	colon:	n/a	n/a
5	JUN	chr12:121581515-121583422	K562	blood:	n/a	n/a
6	CEBPB	chr12:121582240-121582554	HepG2	liver:	n/a	n/a
7	POLR2A	chr12:121582212-121582752	U87	brain:	n/a	n/a
8	FOSL2	chr12:121582153-121582464	HepG2	liver:	n/a	n/a
9	CEBPB	chr12:121581557-121582740	HCT-116	colon:	n/a	chr12:121581759-121581770
10	POLR2A	chr12:121582239-121582544	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr12:121581610-121582853	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr12:121581573-121582820	Hela-S3	cervix:	n/a	chr12:121581759-121581770
13	FOS	chr12:121581585-121582839	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr12:121582209-121582824	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr12:121581608-121582851	MCF10A-Er-Src	breast:	n/a	n/a
16	MTA3	chr12:121582200-121582976	GM12878	blood:	n/a	n/a
17	MYC	chr12:121582161-121582800	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr12:121581608-121582853	MCF10A-Er-Src	breast:	n/a	n/a
19	SPI1	chr12:121581405-121582746	GM12878	blood:	n/a	n/a
20	FOS	chr12:121581610-121582813	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr12:121581600-121582869	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr12:121581599-121582768	IMR90	lung:	n/a	chr12:121581759-121581770
23	JUND	chr12:121581618-121582554	K562	blood:	n/a	chr12:121582330-121582341
24	E2F4	chr12:121582221-121582382	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr12:121581617-121582831	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr12:121581489-121582912	MCF10A-Er-Src	breast:	n/a	n/a
27	NFIC	chr12:121581499-121582923	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121581791..121584022-chr12:121646215..121648780,2	K562	blood:
2	chr12:121575022..121577625-chr12:121581601..121583531,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257053	TF binding region
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11065434	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065442	0.96[ASN][1000 genomes]
rs1180011	0.91[ASN][1000 genomes]
rs1180012	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1180015	0.91[ASN][1000 genomes]
rs1183296	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1185268	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs169631	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169632	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs169633	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1794897	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1796422	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs189989	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs208277	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208280	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208284	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs208287	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs208290	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs208293	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs208294	0.80[ASN][1000 genomes]
rs2263271	0.93[ASN][1000 genomes]
rs2393799	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2686352	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs500930	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs501167	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs570984	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs575572	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs582315	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs591874	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs636719	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656612	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs665794	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs671684	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676262	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs685019	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7309886	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv899563	chr12:121543011-121600529	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121571400-121582800	Weak transcription	Lung	lung
2	chr12:121571400-121594000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121571800-121582400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:121571800-121623200	Weak transcription	Colonic Mucosa	Colon
5	chr12:121572000-121582800	Weak transcription	Primary B cells from cord blood	blood
6	chr12:121572200-121582400	Weak transcription	NHLF	lung
7	chr12:121572200-121583000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:121572200-121599800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:121572600-121592600	Weak transcription	Liver	Liver
10	chr12:121572800-121601600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:121576400-121582400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:121576600-121592400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:121577000-121593400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:121578200-121585200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:121578200-121592400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:121580200-121582400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:121580200-121582600	Weak transcription	Brain Anterior Caudate	brain
18	chr12:121580400-121592000	Weak transcription	Ovary	ovary
19	chr12:121580400-121592400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:121580800-121582400	Weak transcription	Brain Angular Gyrus	brain
21	chr12:121580800-121584000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:121581000-121583200	Enhancers	Placenta	Placenta
23	chr12:121581000-121584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr12:121581400-121583200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:121581400-121583200	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:121581400-121583200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:121581400-121583400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:121581400-121583800	Enhancers	K562	blood
29	chr12:121581600-121582600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:121581600-121582600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:121581600-121582800	Enhancers	Hela-S3	cervix
32	chr12:121581600-121583200	Enhancers	Dnd41	blood
33	chr12:121581600-121583200	Enhancers	NHEK	skin
34	chr12:121581600-121583800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:121581800-121582400	Enhancers	A549	lung
36	chr12:121581800-121582600	Enhancers	HepG2	liver
37	chr12:121581800-121582800	Enhancers	Brain Substantia Nigra	brain
38	chr12:121581800-121583000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:121581800-121583200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:121581800-121583200	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:121581800-121583200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:121581800-121583800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:121581800-121584000	Genic enhancers	Brain Hippocampus Middle	brain
44	chr12:121582000-121582600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:121582000-121582800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:121582000-121583600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:121582000-121594000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:121582200-121582800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:121582200-121583000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:121582200-121583200	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links