Variant report

Variant	rs11168749
Chromosome Location	chr12:49205634-49205635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr12:49203806-49206443	IMR90	lung:	n/a	n/a
2	RCOR1	chr12:49204192-49206087	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49203980..49213270-chr12:49239370..49250118,15	MCF-7	breast:
2	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
3	chr12:49204986..49206498-chr12:52684712..52686569,2	MCF-7	breast:
4	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
5	chr12:49073658..49078597-chr12:49201352..49212442,12	MCF-7	breast:
6	chr12:48993858..48996533-chr12:49205420..49207129,2	K562	blood:
7	chr12:49193170..49195436-chr12:49204972..49207605,2	MCF-7	breast:

No data

Variant related genes	Relation type
CACNB3	TF binding region
ENSG00000205426	Chromatin interaction
ENSG00000174233	Chromatin interaction
ENSG00000271547	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000139620	Chromatin interaction
ENSG00000257660	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11168751	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369114	1.00[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369130	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12814893	1.00[ASN][1000 genomes]
rs2453467	1.00[ASN][1000 genomes]
rs34014405	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36000595	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730308	1.00[ASN][1000 genomes]
rs55638074	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55916159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv826363	chr12:49177227-49250989	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11168749	CACNB3	cis	cerebellum	SCAN
rs11168749	CACNB3	Cis_1M	lymphoblastoid	RTeQTL
rs11168749	ARID2	cis	parietal	SCAN
rs11168749	AQP2	cis	cerebellum	SCAN
rs11168749	CACNB3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49201200-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:49201600-49207600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:49203600-49207600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:49203800-49205800	Enhancers	Stomach Smooth Muscle	stomach
5	chr12:49204000-49205800	Enhancers	Fetal Intestine Large	intestine
6	chr12:49204000-49205800	Enhancers	Fetal Lung	lung
7	chr12:49204000-49206400	Enhancers	Fetal Intestine Small	intestine
8	chr12:49204000-49207200	Enhancers	Ovary	ovary
9	chr12:49204000-49207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:49204200-49205800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:49204200-49206000	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr12:49204200-49206200	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:49204200-49206200	Enhancers	HSMMtube	muscle
14	chr12:49204200-49206400	Enhancers	Fetal Stomach	stomach
15	chr12:49204200-49206600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:49204200-49206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:49204200-49207600	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:49204200-49207600	Enhancers	Placenta	Placenta
19	chr12:49204400-49205800	Enhancers	Colonic Mucosa	Colon
20	chr12:49204400-49206200	Enhancers	Fetal Muscle Leg	muscle
21	chr12:49204400-49206200	Enhancers	Lung	lung
22	chr12:49204400-49206200	Enhancers	NHDF-Ad	bronchial
23	chr12:49204400-49206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:49204600-49205800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr12:49204600-49205800	Enhancers	HSMM	muscle
26	chr12:49204600-49205800	Flanking Active TSS	Osteobl	bone
27	chr12:49204600-49206200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr12:49204600-49207000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr12:49204600-49207400	Weak transcription	Spleen	Spleen
30	chr12:49204600-49207600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:49204800-49207200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:49204800-49207800	Weak transcription	Right Atrium	heart
33	chr12:49205000-49206400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr12:49205000-49207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:49205000-49207600	Weak transcription	Hela-S3	cervix
36	chr12:49205200-49205800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:49205200-49205800	Flanking Active TSS	NHLF	lung
38	chr12:49205200-49207400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:49205200-49207800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:49205400-49205800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr12:49205400-49206000	Bivalent Enhancer	HepG2	liver
42	chr12:49205400-49206200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr12:49205400-49206400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:49205400-49206400	Enhancers	A549	lung
45	chr12:49205400-49207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:49205400-49207200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:49205400-49207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:49205400-49207400	Weak transcription	Stomach Mucosa	stomach
49	chr12:49205400-49207600	Weak transcription	Esophagus	oesophagus
50	chr12:49205400-49208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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