Variant report

Variant	rs11172270
Chromosome Location	chr12:58014367-58014368
allele	C/G
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	SUZ12	chr12:58012720-58016103	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:58007372..58011848-chr12:58013286..58019253,6	MCF-7	breast:
2	chr12:57998188..58000440-chr12:58014339..58016922,2	MCF-7	breast:
3	chr12:57912866..57916321-chr12:58013594..58015753,4	K562	blood:
4	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
5	chr12:58013150..58015350-chr12:58146267..58147778,2	K562	blood:

No data

Variant related genes	Relation type
SLC26A10	TF binding region
ENSG00000224713	TF binding region
ENSG00000175197	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000240771	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12578587	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28620262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294447	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73346100	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7960103	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7966948	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7977683	0.86[ASN][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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers 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	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58006200-58014800	Weak transcription	Brain Angular Gyrus	brain
2	chr12:58010400-58014400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:58011400-58014600	Weak transcription	Ovary	ovary
4	chr12:58011600-58018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:58011800-58015000	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:58011800-58018800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:58012000-58015000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:58012000-58015000	Weak transcription	K562	blood
9	chr12:58012000-58019000	Weak transcription	Aorta	Aorta
10	chr12:58012600-58014600	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr12:58012800-58014400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr12:58012800-58014800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:58013000-58014600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr12:58013000-58014800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr12:58013000-58014800	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr12:58013000-58015000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr12:58013000-58015000	Bivalent Enhancer	Fetal Heart	heart
18	chr12:58013000-58015200	Bivalent Enhancer	Placenta	Placenta
19	chr12:58013000-58016000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:58013200-58014400	Enhancers	Spleen	Spleen
21	chr12:58013200-58014600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
22	chr12:58013200-58014600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr12:58013200-58014600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
24	chr12:58013200-58014800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
25	chr12:58013200-58014800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr12:58013200-58014800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:58013200-58014800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:58013200-58014800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr12:58013200-58015200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:58013200-58015200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
31	chr12:58013200-58015200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr12:58013200-58015200	Bivalent Enhancer	Fetal Stomach	stomach
33	chr12:58013200-58015200	Enhancers	Pancreas	Pancrea
34	chr12:58013400-58014600	Bivalent Enhancer	Primary T cells from cord blood	blood
35	chr12:58013400-58014600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr12:58013400-58014800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:58013400-58014800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr12:58013600-58014400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
39	chr12:58013600-58014600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:58013600-58014800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr12:58013600-58014800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:58013600-58014800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:58013800-58014600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr12:58013800-58014600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:58013800-58014600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:58013800-58014600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:58013800-58014800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:58013800-58014800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr12:58013800-58014800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr12:58013800-58014800	Weak transcription	Gastric	stomach

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