Variant report

Variant	rs8295
Chromosome Location	chr12:121139388-121139389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:121139249-121139447	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121137707..121139604-chr12:121147204..121148903,2	MCF-7	breast:
2	chr12:121125276..121128582-chr12:121139011..121141679,3	MCF-7	breast:
3	chr12:121139055..121141788-chr12:121148232..121149870,2	MCF-7	breast:
4	chr12:121085752..121087777-chr12:121138546..121140930,2	MCF-7	breast:
5	chr12:121132775..121135777-chr12:121136647..121140338,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256364	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000175970	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12424591	0.95[ASN][1000 genomes]
rs12425951	0.95[ASN][1000 genomes]
rs12426170	0.95[ASN][1000 genomes]
rs35014778	0.95[ASN][1000 genomes]
rs3751163	0.95[ASN][1000 genomes]
rs476676	0.95[ASN][1000 genomes]
rs510900	0.95[ASN][1000 genomes]
rs547245	0.95[ASN][1000 genomes]
rs55660947	0.90[EUR][1000 genomes]
rs56091449	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57860907	0.91[ASN][1000 genomes]
rs59902644	0.95[ASN][1000 genomes]
rs644065	0.95[ASN][1000 genomes]
rs696335	0.95[ASN][1000 genomes]
rs696336	0.95[ASN][1000 genomes]
rs696338	0.95[ASN][1000 genomes]
rs71454659	0.95[ASN][1000 genomes]
rs73222802	0.95[ASN][1000 genomes]
rs73225008	0.95[ASN][1000 genomes]
rs73225010	0.95[ASN][1000 genomes]
rs73225016	0.95[ASN][1000 genomes]
rs73225017	0.95[ASN][1000 genomes]
rs73225023	0.96[EUR][1000 genomes]
rs73225026	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225027	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73225032	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121127600-121147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121130200-121143000	Strong transcription	Dnd41	blood
3	chr12:121130200-121143400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:121130600-121141800	Strong transcription	NHEK	skin
5	chr12:121130600-121142000	Strong transcription	Fetal Stomach	stomach
6	chr12:121130600-121142400	Strong transcription	GM12878-XiMat	blood
7	chr12:121130600-121143200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:121130800-121140000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:121130800-121140400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr12:121130800-121141600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:121130800-121141800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:121130800-121141800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:121130800-121141800	Strong transcription	Thymus	Thymus
14	chr12:121130800-121142000	Strong transcription	Osteobl	bone
15	chr12:121130800-121142200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:121130800-121143600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:121131000-121139800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:121131000-121141200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:121131000-121141600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:121131000-121142400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:121131200-121141400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr12:121131200-121141800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:121131200-121141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121131200-121142000	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr12:121131200-121143800	Strong transcription	Fetal Thymus	thymus
26	chr12:121131400-121140200	Strong transcription	K562	blood
27	chr12:121131400-121141000	Strong transcription	Primary hematopoietic stem cells	blood
28	chr12:121131400-121141800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:121131400-121142200	Strong transcription	Primary T cells from cord blood	blood
30	chr12:121131600-121140000	Strong transcription	Ovary	ovary
31	chr12:121131600-121141200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr12:121131600-121141800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:121131600-121141800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:121131600-121141800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr12:121131600-121141800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr12:121131800-121140400	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr12:121131800-121140600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:121131800-121140800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:121131800-121141600	Strong transcription	Brain Angular Gyrus	brain
40	chr12:121131800-121141600	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:121131800-121141800	Strong transcription	Liver	Liver
42	chr12:121131800-121141800	Strong transcription	Fetal Brain Female	brain
43	chr12:121132000-121139400	Strong transcription	Esophagus	oesophagus
44	chr12:121132000-121139400	Strong transcription	HepG2	liver
45	chr12:121132000-121139600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:121132000-121140000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:121132000-121140200	Strong transcription	Fetal Lung	lung
48	chr12:121132000-121140200	Strong transcription	HMEC	breast
49	chr12:121132000-121140800	Strong transcription	Rectal Smooth Muscle	rectum
50	chr12:121132000-121140800	Strong transcription	A549	lung

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