Variant report

Variant	rs2860360
Chromosome Location	chr12:49206182-49206183
allele	C/G
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:6)
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	MAZ	chr12:49203806-49206443	IMR90	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10875876	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10875877	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1532365	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2070615	0.83[ASN][1000 genomes]
rs2446989	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2446992	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2453468	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453469	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2453478	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2453479	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926803	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2926804	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3101344	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4760643	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6580695	0.91[ASN][1000 genomes]
rs903568	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs931570	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[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

No data

Chromatin state (count:63 , 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	chr12:49204000-49206400	Enhancers	Fetal Intestine Small	intestine
5	chr12:49204000-49207200	Enhancers	Ovary	ovary
6	chr12:49204000-49207400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:49204200-49206200	Enhancers	Duodenum Mucosa	Duodenum
8	chr12:49204200-49206200	Enhancers	HSMMtube	muscle
9	chr12:49204200-49206400	Enhancers	Fetal Stomach	stomach
10	chr12:49204200-49206600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:49204200-49206800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:49204200-49207600	Enhancers	Fetal Muscle Trunk	muscle
13	chr12:49204200-49207600	Enhancers	Placenta	Placenta
14	chr12:49204400-49206200	Enhancers	Fetal Muscle Leg	muscle
15	chr12:49204400-49206200	Enhancers	Lung	lung
16	chr12:49204400-49206200	Enhancers	NHDF-Ad	bronchial
17	chr12:49204400-49206600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:49204600-49206200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr12:49204600-49207000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
20	chr12:49204600-49207400	Weak transcription	Spleen	Spleen
21	chr12:49204600-49207600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:49204800-49207200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:49204800-49207800	Weak transcription	Right Atrium	heart
24	chr12:49205000-49206400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr12:49205000-49207400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:49205000-49207600	Weak transcription	Hela-S3	cervix
27	chr12:49205200-49207400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr12:49205200-49207800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:49205400-49206200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr12:49205400-49206400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:49205400-49206400	Enhancers	A549	lung
32	chr12:49205400-49207200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:49205400-49207200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:49205400-49207400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:49205400-49207400	Weak transcription	Stomach Mucosa	stomach
36	chr12:49205400-49207600	Weak transcription	Esophagus	oesophagus
37	chr12:49205400-49208000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:49205600-49206400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:49205600-49206400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:49205600-49207200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:49205600-49207200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:49205600-49207400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:49205600-49207400	Enhancers	NH-A	brain
44	chr12:49205600-49207600	Weak transcription	Gastric	stomach
45	chr12:49205600-49207600	Weak transcription	HMEC	breast
46	chr12:49205800-49206200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr12:49205800-49206200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:49205800-49206200	Weak transcription	Colonic Mucosa	Colon
49	chr12:49205800-49207200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:49205800-49207200	Weak transcription	Stomach Smooth Muscle	stomach

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