Variant report

Variant	rs56352410
Chromosome Location	chr12:39538522-39538523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10506137	1.00[EUR][1000 genomes]
rs17120051	1.00[EUR][1000 genomes]
rs17126955	1.00[EUR][1000 genomes]
rs17126959	1.00[EUR][1000 genomes]
rs17126974	1.00[EUR][1000 genomes]
rs17126978	1.00[EUR][1000 genomes]
rs17126995	1.00[EUR][1000 genomes]
rs4479030	1.00[EUR][1000 genomes]
rs60104847	1.00[EUR][1000 genomes]
rs61204473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73262407	1.00[EUR][1000 genomes]
rs73262445	1.00[EUR][1000 genomes]
rs73262463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264532	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832374	chr12:39468434-39630369	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899010	chr12:39512724-39594506	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv899011	chr12:39517706-39594506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv899012	chr12:39531466-39594506	Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39538200-39539600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr12:39538400-39538600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:39538400-39538600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:39538400-39538600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:39538400-39538600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
6	chr12:39538400-39538600	Bivalent Enhancer	Liver	Liver
7	chr12:39538400-39538600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
8	chr12:39538400-39538600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr12:39538400-39538600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
10	chr12:39538400-39538800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
11	chr12:39538400-39538800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
12	chr12:39538400-39538800	Bivalent Enhancer	Placenta	Placenta
13	chr12:39538400-39539000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
14	chr12:39538400-39539000	Active TSS	Colonic Mucosa	Colon
15	chr12:39538400-39539000	Active TSS	Pancreas	Pancrea
16	chr12:39538400-39539200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:39538400-39539200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:39538400-39539200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
19	chr12:39538400-39539200	Bivalent/Poised TSS	A549	lung
20	chr12:39538400-39539400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
21	chr12:39538400-39539400	Active TSS	Brain Anterior Caudate	brain
22	chr12:39538400-39539400	Active TSS	Colon Smooth Muscle	Colon
23	chr12:39538400-39539600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr12:39538400-39539600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:39538400-39539600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr12:39538400-39539600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr12:39538400-39539600	Active TSS	Stomach Smooth Muscle	stomach
28	chr12:39538400-39539800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
29	chr12:39538400-39539800	Active TSS	Brain Hippocampus Middle	brain
30	chr12:39538400-39539800	Active TSS	Brain Substantia Nigra	brain
31	chr12:39538400-39539800	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links