Variant report

Variant	rs56318011
Chromosome Location	chr12:58109052-58109053
allele	C/T
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	SPI1	chr12:58108938-58109515	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58088175..58090012-chr12:58107431..58109845,2	K562	blood:
2	chr12:58108037..58111841-chr12:58122870..58126206,3	K562	blood:

Variant related genes	Relation type
OS9	TF binding region
ENSG00000135506	Chromatin interaction
ENSG00000135439	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs34299538	1.00[AMR][1000 genomes]
rs55849950	1.00[AMR][1000 genomes]
rs58824032	1.00[AMR][1000 genomes]
rs59476756	1.00[AMR][1000 genomes]
rs73334082	1.00[AMR][1000 genomes]
rs73335910	1.00[AMR][1000 genomes]
rs73338222	1.00[AMR][1000 genomes]
rs73338246	1.00[AMR][1000 genomes]
rs73338249	1.00[AMR][1000 genomes]
rs73338250	1.00[AMR][1000 genomes]
rs73338252	1.00[AMR][1000 genomes]
rs73349954	1.00[AMR][1000 genomes]
rs74094487	1.00[AMR][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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv1820402	chr12:58092554-58110211	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
4	chr12:58091000-58109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:58091000-58110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:58091200-58109600	Weak transcription	Right Ventricle	heart
7	chr12:58091200-58116600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:58091400-58110200	Weak transcription	HUVEC	blood vessel
9	chr12:58091400-58111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:58092800-58109200	Weak transcription	HepG2	liver
11	chr12:58092800-58109400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:58093400-58109600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:58093400-58115400	Weak transcription	Fetal Brain Male	brain
14	chr12:58094400-58119600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:58096600-58109200	Weak transcription	Brain Angular Gyrus	brain
16	chr12:58096800-58110200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr12:58097200-58116200	Weak transcription	Psoas Muscle	Psoas
18	chr12:58097400-58109200	Weak transcription	Brain Substantia Nigra	brain
19	chr12:58097400-58109800	Weak transcription	NHEK	skin
20	chr12:58097800-58109200	Weak transcription	NHLF	lung
21	chr12:58097800-58109600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:58098000-58109400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:58098000-58109400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:58098000-58109400	Weak transcription	Stomach Mucosa	stomach
25	chr12:58098000-58110000	Weak transcription	NHDF-Ad	bronchial
26	chr12:58098000-58110400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:58098000-58110800	Weak transcription	HMEC	breast
28	chr12:58098000-58111800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:58098000-58112000	Weak transcription	A549	lung
30	chr12:58098000-58113000	Weak transcription	K562	blood
31	chr12:58098000-58115600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:58098000-58115800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:58098000-58116000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:58098200-58109200	Weak transcription	Fetal Kidney	kidney
35	chr12:58098200-58109200	Weak transcription	Osteobl	bone
36	chr12:58098200-58109400	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:58098400-58109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:58098400-58115800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:58098400-58116000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:58098400-58117600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:58098800-58116000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:58100000-58109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:58100000-58109400	Weak transcription	Left Ventricle	heart
44	chr12:58100400-58109200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:58100400-58110000	Weak transcription	Small Intestine	intestine
46	chr12:58100600-58109200	Weak transcription	Brain Anterior Caudate	brain
47	chr12:58101400-58110200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:58102400-58109200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:58102400-58109400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:58103400-58113000	Weak transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links