Variant report

Variant	rs10783288
Chromosome Location	chr12:49285206-49285207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:49206484..49210724-chr12:49282235..49285491,4	MCF-7	breast:
2	chr12:49208119..49209061-chr12:49284220..49285446,5	K562	blood:
3	chr12:49253798..49263932-chr12:49272568..49285670,39	MCF-7	breast:
4	chr12:49283029..49285571-chr17:56707837..56709739,2	MCF-7	breast:
5	chr12:49243837..49250262-chr12:49279824..49286856,16	MCF-7	breast:
6	chr12:49245591..49248128-chr12:49284158..49286872,6	MCF-7	breast:
7	chr12:49283516..49285369-chr12:49317671..49319876,2	K562	blood:

Variant related genes	Relation type
ENSG00000167535	Chromatin interaction
ENSG00000172602	Chromatin interaction
ENSG00000134285	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000174243	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10875884	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17175174	1.00[JPT][hapmap]
rs2228417	1.00[JPT][hapmap]
rs2453475	0.81[EUR][1000 genomes]
rs2453477	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs58829932	1.00[ASN][1000 genomes]
rs7954041	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833474	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs833477	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs833480	1.00[JPT][hapmap];0.86[AFR][1000 genomes]
rs833482	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469373	chr12:49256792-49285390	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
2	nsv558832	chr12:49256792-49285390	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
3	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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 target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49283800-49285400	Enhancers	Fetal Brain Male	brain
2	chr12:49284200-49285600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr12:49284400-49285400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr12:49284400-49285400	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr12:49284400-49285600	Active TSS	Fetal Brain Female	brain
6	chr12:49284600-49285400	Active TSS	Brain Cingulate Gyrus	brain
7	chr12:49284600-49285600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:49284800-49285400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr12:49285000-49285400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:49285000-49285400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:49285000-49285400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
12	chr12:49285000-49285400	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr12:49285000-49285400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr12:49285000-49285400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:49285200-49285400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:49285200-49285400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr12:49285200-49285400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr12:49285200-49285400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:49285200-49285400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:49285200-49285400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:49285200-49285400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:49285200-49285400	Active TSS	Brain Germinal Matrix	brain
23	chr12:49285200-49285400	Enhancers	Brain Substantia Nigra	brain
24	chr12:49285200-49285400	Bivalent Enhancer	Small Intestine	intestine
25	chr12:49285200-49285600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:49285200-49285600	Enhancers	Brain Angular Gyrus	brain
27	chr12:49285200-49285600	Bivalent Enhancer	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links