Variant report

Variant	rs12108264
Chromosome Location	chr4:8444656-8444657
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	TEAD4	chr4:8444395-8444721	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:8444623-8444753	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:8442733..8444744-chr4:8447806..8449869,2	MCF-7	breast:
2	chr4:8439633..8442569-chr4:8444253..8445753,2	MCF-7	breast:
3	chr4:8428067..8433323-chr4:8440948..8445760,8	K562	blood:

Variant related genes	Relation type
ACOX3	TF binding region
ENSG00000087008	Chromatin interaction
ENSG00000155275	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10516192	0.89[EUR][1000 genomes]
rs11933361	0.89[EUR][1000 genomes]
rs11938744	0.89[EUR][1000 genomes]
rs12108233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12108299	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12500106	0.89[EUR][1000 genomes]
rs12500186	0.89[EUR][1000 genomes]
rs12500188	0.89[EUR][1000 genomes]
rs12501889	0.89[EUR][1000 genomes]
rs12503080	0.89[EUR][1000 genomes]
rs12504328	0.89[EUR][1000 genomes]
rs12504813	0.89[EUR][1000 genomes]
rs12506272	0.89[EUR][1000 genomes]
rs12506429	0.89[EUR][1000 genomes]
rs12506703	0.89[EUR][1000 genomes]
rs12509545	0.89[EUR][1000 genomes]
rs12511417	0.89[EUR][1000 genomes]
rs12511591	0.89[EUR][1000 genomes]
rs12512006	0.89[EUR][1000 genomes]
rs12513296	0.89[EUR][1000 genomes]
rs16842284	0.89[EUR][1000 genomes]
rs16842305	0.89[EUR][1000 genomes]
rs16842316	0.89[EUR][1000 genomes]
rs34873641	0.89[EUR][1000 genomes]
rs55856487	0.89[EUR][1000 genomes]
rs59670959	0.89[EUR][1000 genomes]
rs59872851	0.89[EUR][1000 genomes]
rs66675498	0.89[EUR][1000 genomes]
rs66794792	0.89[EUR][1000 genomes]
rs67332046	0.89[EUR][1000 genomes]
rs67496006	0.89[EUR][1000 genomes]
rs67901119	0.89[EUR][1000 genomes]
rs6813671	0.89[EUR][1000 genomes]
rs6814866	0.89[EUR][1000 genomes]
rs73211315	0.89[EUR][1000 genomes]
rs73211338	0.89[EUR][1000 genomes]
rs73211340	0.89[EUR][1000 genomes]
rs73211347	0.89[EUR][1000 genomes]
rs73211351	1.00[EUR][1000 genomes]
rs73211354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73211357	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73211359	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73211365	0.89[EUR][1000 genomes]
rs73211366	0.89[EUR][1000 genomes]
rs73211368	0.89[EUR][1000 genomes]
rs73211373	0.89[EUR][1000 genomes]
rs73211378	0.89[EUR][1000 genomes]
rs73211381	0.89[EUR][1000 genomes]
rs73211383	0.89[EUR][1000 genomes]
rs73211388	0.89[EUR][1000 genomes]
rs73211394	0.89[EUR][1000 genomes]
rs73211401	0.89[EUR][1000 genomes]
rs73213403	0.89[EUR][1000 genomes]
rs73213404	0.89[EUR][1000 genomes]
rs73213405	0.89[EUR][1000 genomes]
rs73213406	0.89[EUR][1000 genomes]
rs73213409	0.89[EUR][1000 genomes]
rs73213410	0.89[EUR][1000 genomes]
rs73213413	0.89[EUR][1000 genomes]
rs73213414	0.89[EUR][1000 genomes]
rs73213420	0.89[EUR][1000 genomes]
rs73213426	0.89[EUR][1000 genomes]
rs73223242	0.89[EUR][1000 genomes]
rs73223246	0.89[EUR][1000 genomes]
rs73223250	0.89[EUR][1000 genomes]
rs73223263	0.89[EUR][1000 genomes]
rs73223264	0.89[EUR][1000 genomes]
rs73223266	0.89[EUR][1000 genomes]
rs73223271	0.89[EUR][1000 genomes]
rs73223275	0.89[EUR][1000 genomes]
rs73223282	0.89[EUR][1000 genomes]
rs73223294	0.89[EUR][1000 genomes]
rs9761200	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8441600-8445000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr4:8442800-8444800	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr4:8443000-8445000	Flanking Active TSS	Dnd41	blood
4	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:8443200-8444800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:8443200-8445000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:8443200-8445000	Enhancers	Spleen	Spleen
8	chr4:8443200-8445200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr4:8443400-8444800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr4:8443400-8444800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:8443400-8444800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:8443400-8444800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:8443400-8444800	Enhancers	Aorta	Aorta
15	chr4:8443400-8445000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:8443400-8445000	Flanking Active TSS	Hela-S3	cervix
17	chr4:8443400-8445200	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:8443600-8444800	Enhancers	Fetal Brain Male	brain
19	chr4:8443600-8445000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr4:8443600-8445000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:8443600-8445000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:8443600-8445200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:8443600-8445200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr4:8443600-8445200	Enhancers	Small Intestine	intestine
25	chr4:8443600-8445200	Enhancers	Thymus	Thymus
26	chr4:8443600-8445400	Enhancers	Placenta	Placenta
27	chr4:8443600-8445800	Enhancers	Fetal Heart	heart
28	chr4:8443600-8447800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:8443600-8455400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:8443800-8444800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:8443800-8445000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:8443800-8445000	Enhancers	Fetal Thymus	thymus
33	chr4:8443800-8445200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:8443800-8445200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:8443800-8445200	Enhancers	Brain Anterior Caudate	brain
36	chr4:8443800-8445200	Enhancers	Gastric	stomach
37	chr4:8443800-8445200	Enhancers	Left Ventricle	heart
38	chr4:8443800-8445200	Enhancers	Pancreas	Pancrea
39	chr4:8443800-8445200	Enhancers	Right Ventricle	heart
40	chr4:8443800-8445400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr4:8443800-8445400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:8443800-8445400	Enhancers	Primary B cells from cord blood	blood
43	chr4:8443800-8445400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr4:8443800-8445800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr4:8443800-8446000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:8443800-8447800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr4:8443800-8449000	Weak transcription	Lung	lung
48	chr4:8444000-8444800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:8444000-8444800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr4:8444000-8444800	Enhancers	Fetal Muscle Trunk	muscle

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