Variant report

Variant	rs7963516
Chromosome Location	chr12:26429143-26429144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr12:26426491-26429208	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673
2	ESR1	chr12:26428827-26429210	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr12:26428457-26429235	ECC-1	luminal epithelium:	n/a	chr12:26428678-26428692
4	ESR1	chr12:26428913-26429213	ECC-1	luminal epithelium:	n/a	n/a
5	NR3C1	chr12:26428760-26429148	A549	lung:	n/a	n/a
6	ESR1	chr12:26428408-26429164	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr12:26429111-26429224	K562	blood:	n/a	n/a
8	ESR1	chr12:26428448-26429261	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr12:26426511-26429193	NB4	blood:	n/a	chr12:26427797-26427806 chr12:26427798-26427807 chr12:26426664-26426673

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:26397687..26399446-chr12:26426003..26429309,3	K562	blood:
2	chr12:26396952..26399057-chr12:26429101..26431278,2	MCF-7	breast:
3	chr12:26397649..26399446-chr12:26426022..26429309,3	K562	blood:
4	chr12:26427515..26429960-chr12:26436014..26437824,3	K562	blood:
5	chr12:26419878..26421463-chr12:26428029..26429779,2	K562	blood:
6	chr12:26427380..26429500-chr12:26439632..26442928,3	K562	blood:
7	chr12:26265923..26267917-chr12:26426739..26429196,2	K562	blood:
8	chr12:26427065..26429381-chr12:26431183..26432797,2	MCF-7	breast:
9	chr12:26419878..26422720-chr12:26427079..26429529,2	K562	blood:
10	chr12:26427783..26429500-chr12:26440794..26443678,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255750	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11048441	0.94[ASN][1000 genomes]
rs1355734	1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs1383115	0.86[AFR][1000 genomes]
rs1463583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480031	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480038	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1480040	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs1533249	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs1913234	0.94[ASN][1000 genomes]
rs2343875	0.94[ASN][1000 genomes]
rs6487545	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7295825	0.94[ASN][1000 genomes]
rs7956017	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7976541	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817432	chr12:26355515-26873664	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26421800-26435800	Weak transcription	Gastric	stomach
2	chr12:26422600-26429200	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr12:26423800-26429200	Enhancers	Stomach Mucosa	stomach
4	chr12:26424000-26429200	Enhancers	Fetal Intestine Large	intestine
5	chr12:26424000-26431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:26424400-26430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:26424600-26429200	Enhancers	Brain Anterior Caudate	brain
8	chr12:26424600-26431800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:26424600-26433400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:26424800-26447000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:26425800-26431600	Enhancers	Primary hematopoietic stem cells	blood
12	chr12:26426000-26429800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:26426000-26432200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:26426400-26429200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:26426600-26429200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:26426600-26429200	Enhancers	Adipose Nuclei	Adipose
17	chr12:26426600-26429200	Enhancers	NHLF	lung
18	chr12:26426600-26431400	Enhancers	NHDF-Ad	bronchial
19	chr12:26426600-26431600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:26426600-26431800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:26426800-26429200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr12:26426800-26432200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:26427200-26429200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:26427600-26429200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:26427600-26429200	Enhancers	Brain Hippocampus Middle	brain
26	chr12:26427600-26431000	Enhancers	Osteobl	bone
27	chr12:26427800-26429200	Enhancers	NH-A	brain
28	chr12:26427800-26429200	Enhancers	NHEK	skin
29	chr12:26427800-26430000	Enhancers	HUVEC	blood vessel
30	chr12:26427800-26430800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:26427800-26432000	Weak transcription	Psoas Muscle	Psoas
32	chr12:26428000-26429600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:26428000-26430400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr12:26428200-26429200	Enhancers	A549	lung
35	chr12:26428200-26429200	Enhancers	Hela-S3	cervix
36	chr12:26428200-26429400	Enhancers	HepG2	liver
37	chr12:26428200-26429400	Enhancers	K562	blood
38	chr12:26428200-26431000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr12:26428200-26431200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:26428200-26432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:26428200-26433400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:26428400-26429200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:26428400-26434000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:26428600-26433800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:26428800-26429200	Enhancers	Lung	lung
46	chr12:26428800-26430800	Enhancers	Spleen	Spleen
47	chr12:26429000-26429200	Weak transcription	Placenta	Placenta
48	chr12:26429000-26429200	Enhancers	Small Intestine	intestine
49	chr12:26429000-26429200	Enhancers	HSMMtube	muscle
50	chr12:26429000-26429400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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