Variant report

Variant	rs12294928
Chromosome Location	chr11:46341395-46341396
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:46332850..46336824-chr11:46338704..46341793,4	MCF-7	breast:
2	chr11:46258256..46260216-chr11:46339919..46341898,2	K562	blood:
3	chr11:46340260..46343064-chr11:46368251..46371129,2	MCF-7	breast:
4	chr11:46260302..46262662-chr11:46340066..46342667,3	K562	blood:
5	chr11:46339283..46341494-chr20:52824056..52826126,2	MCF-7	breast:
6	chr11:46339591..46341538-chr11:46374275..46376969,2	K562	blood:
7	chr11:46259014..46262894-chr11:46335326..46342667,9	K562	blood:
8	chr11:46315406..46317942-chr11:46339600..46342973,3	K562	blood:
9	chr11:46332816..46336115-chr11:46338065..46341481,4	K562	blood:
10	chr11:46336628..46338885-chr11:46339092..46341435,2	K562	blood:
11	chr11:46338683..46341557-chr11:46343415..46346648,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000101132	Chromatin interaction
ENSG00000149091	Chromatin interaction
ENSG00000157613	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1044796	0.94[ASN][1000 genomes]
rs12285419	1.00[ASN][1000 genomes]
rs6485675	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952650	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9988823	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46319200-46342000	Weak transcription	Ovary	ovary
2	chr11:46319400-46346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:46322000-46345000	Weak transcription	Small Intestine	intestine
4	chr11:46329000-46344000	Strong transcription	Fetal Intestine Large	intestine
5	chr11:46329200-46346800	Weak transcription	Fetal Kidney	kidney
6	chr11:46330000-46341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:46330200-46349400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr11:46330600-46344800	Strong transcription	Fetal Intestine Small	intestine
9	chr11:46330600-46345000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46330600-46346200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:46330600-46348200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:46330600-46348800	Strong transcription	Fetal Stomach	stomach
13	chr11:46330800-46344600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:46330800-46348200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:46331200-46344200	Strong transcription	Osteobl	bone
16	chr11:46331400-46344800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:46331400-46345000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:46331600-46343800	Strong transcription	NHLF	lung
19	chr11:46331600-46345000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:46331800-46344000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:46332000-46344600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:46332200-46344200	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr11:46334400-46346000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr11:46335800-46345000	Strong transcription	NH-A	brain
25	chr11:46336400-46341800	Enhancers	Primary hematopoietic stem cells	blood
26	chr11:46336400-46345200	Strong transcription	HSMM	muscle
27	chr11:46336600-46344000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:46336600-46344800	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:46336800-46343000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:46336800-46346800	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:46337000-46341400	Enhancers	Spleen	Spleen
32	chr11:46337000-46343800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:46337000-46344600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:46337200-46342600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr11:46337200-46343800	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:46337200-46344200	Strong transcription	NHDF-Ad	bronchial
37	chr11:46337400-46344200	Strong transcription	HSMMtube	muscle
38	chr11:46337600-46343600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:46337600-46344000	Strong transcription	Gastric	stomach
40	chr11:46337600-46346000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:46338000-46342600	Strong transcription	Colonic Mucosa	Colon
42	chr11:46338800-46343200	Strong transcription	Pancreas	Pancrea
43	chr11:46338800-46351400	Weak transcription	Fetal Heart	heart
44	chr11:46339200-46341800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr11:46339600-46341600	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:46339600-46342000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:46339600-46342200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr11:46339600-46342400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:46339800-46341400	Enhancers	Fetal Thymus	thymus
50	chr11:46340200-46343000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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