Variant report

Variant	rs12793354
Chromosome Location	chr11:120084056-120084057
allele	A/C/G/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	KAP1	chr11:120083597-120084080	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120038992..120040633-chr11:120083752..120086483,2	K562	blood:
3	chr11:120080662..120083182-chr11:120083944..120086303,3	MCF-7	breast:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
5	chr11:120038506..120040920-chr11:120082703..120085252,3	K562	blood:

No data

Variant related genes	Relation type
OAF	TF binding region
ENSG00000137709	Chromatin interaction
ENSG00000184232	Chromatin interaction
ENSG00000176984	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10892550	0.83[ASN][1000 genomes]
rs10892551	1.00[ASN][1000 genomes]
rs11217770	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786658	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12808181	1.00[ASN][1000 genomes]
rs873059	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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120081000-120084200	Active TSS	Right Ventricle	heart
2	chr11:120081000-120084400	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:120081200-120084400	Active TSS	Right Atrium	heart
4	chr11:120081200-120084600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120082200-120085200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr11:120082600-120084200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:120082600-120084400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:120082600-120084400	Active TSS	Colon Smooth Muscle	Colon
9	chr11:120082800-120084200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:120082800-120084200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr11:120082800-120084400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr11:120082800-120084400	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr11:120082800-120086400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:120082800-120087200	Weak transcription	Lung	lung
15	chr11:120082800-120091800	Enhancers	Placenta	Placenta
16	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:120083000-120084200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:120083000-120086400	Weak transcription	HMEC	breast
19	chr11:120083200-120084200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:120083200-120084400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:120083200-120084400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:120083200-120084600	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr11:120083200-120084800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:120083200-120085000	Flanking Active TSS	Liver	Liver
25	chr11:120083200-120085400	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:120083400-120084200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr11:120083400-120084400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr11:120083400-120084600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:120083400-120084800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:120083400-120086200	Weak transcription	K562	blood
31	chr11:120083400-120088400	Weak transcription	Brain Angular Gyrus	brain
32	chr11:120083600-120084200	Flanking Active TSS	Fetal Intestine Small	intestine
33	chr11:120083600-120084200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:120083600-120084400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr11:120083600-120084400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr11:120083600-120084400	Flanking Active TSS	HepG2	liver
37	chr11:120083600-120084400	Enhancers	HUVEC	blood vessel
38	chr11:120083600-120084600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:120083600-120084600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
40	chr11:120083600-120084800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:120083600-120084800	Enhancers	Small Intestine	intestine
42	chr11:120083600-120089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:120083600-120089600	Weak transcription	Fetal Heart	heart
44	chr11:120083800-120084200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr11:120083800-120084200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:120083800-120084200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:120083800-120084200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:120083800-120084200	Enhancers	Gastric	stomach
49	chr11:120083800-120084200	Enhancers	Spleen	Spleen
50	chr11:120083800-120084200	Flanking Active TSS	Hela-S3	cervix

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