Variant report

Variant	rs11574052
Chromosome Location	chr12:48272105-48272106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR3C1	chr12:48272089-48272350	ECC-1	luminal epithelium:	n/a	chr12:48272248-48272262
2	NR3C1	chr12:48271919-48272573	A549	lung:	n/a	chr12:48272248-48272262
3	NR3C1	chr12:48272080-48272433	A549	lung:	n/a	chr12:48272248-48272262
4	NR3C1	chr12:48272016-48272443	A549	lung:	n/a	chr12:48272248-48272262
5	NR3C1	chr12:48272032-48272505	A549	lung:	n/a	chr12:48272248-48272262
6	NR3C1	chr12:48272105-48272376	A549	lung:	n/a	chr12:48272248-48272262

No.	Distal block	Cell Line	Cell type
1	chr12:48269676..48272206-chr12:48273636..48276943,5	MCF-7	breast:
2	chr12:48270125..48272257-chr12:48295028..48297755,2	MCF-7	breast:
3	chr12:48267396..48269464-chr12:48269614..48272143,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205537	TF binding region
ENSG00000205537	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11168256	1.00[ASN][1000 genomes]
rs11168257	1.00[ASN][1000 genomes]
rs11168258	1.00[ASN][1000 genomes]
rs17721101	1.00[ASN][1000 genomes]
rs55713656	1.00[ASN][1000 genomes]
rs73109811	1.00[ASN][1000 genomes]
rs7487602	1.00[ASN][1000 genomes]
rs7487637	1.00[ASN][1000 genomes]
rs7973956	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
2	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
3	chr12:48245400-48274000	Weak transcription	Small Intestine	intestine
4	chr12:48248200-48275800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:48253000-48276800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr12:48261600-48276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:48262000-48296800	Weak transcription	Aorta	Aorta
8	chr12:48262200-48275400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr12:48262800-48275600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:48263000-48275400	Weak transcription	Primary B cells from cord blood	blood
11	chr12:48264600-48273600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:48264600-48273800	Weak transcription	Fetal Stomach	stomach
13	chr12:48264600-48275800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:48264600-48275800	Weak transcription	Stomach Mucosa	stomach
15	chr12:48264800-48275000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:48264800-48276800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:48265000-48274400	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr12:48265000-48276000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:48265000-48276800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:48265000-48283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:48265400-48274000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:48265600-48275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:48266000-48275200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:48266200-48272800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:48266400-48275200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:48266800-48274000	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:48267400-48273600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr12:48267600-48273000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:48267800-48272200	Enhancers	HepG2	liver
30	chr12:48269600-48272400	Genic enhancers	HMEC	breast
31	chr12:48269600-48273000	Strong transcription	Lung	lung
32	chr12:48269600-48273200	Strong transcription	Gastric	stomach
33	chr12:48270000-48272200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:48270000-48273800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:48270200-48273200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:48270200-48274000	Strong transcription	Fetal Intestine Small	intestine
37	chr12:48270200-48276200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr12:48270400-48272800	Strong transcription	Spleen	Spleen
39	chr12:48270400-48273400	Strong transcription	NHLF	lung
40	chr12:48270400-48273600	Strong transcription	Fetal Intestine Large	intestine
41	chr12:48270600-48273600	Strong transcription	Osteobl	bone
42	chr12:48270600-48273800	Weak transcription	GM12878-XiMat	blood
43	chr12:48270600-48275200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr12:48270800-48272800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:48270800-48275800	Weak transcription	Placenta	Placenta
46	chr12:48271000-48272800	Strong transcription	NHDF-Ad	bronchial
47	chr12:48271000-48273000	Strong transcription	Esophagus	oesophagus
48	chr12:48271000-48274600	Strong transcription	HSMMtube	muscle
49	chr12:48271200-48272800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:48271400-48272800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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