Variant report

Variant	rs4592463
Chromosome Location	chr12:48784200-48784201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48782012..48785596-chr12:48788294..48790802,3	K562	blood:

Variant related genes	Relation type
ENSG00000257792	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11168547	0.87[ASN][1000 genomes]
rs11168550	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11168584	0.81[AMR][1000 genomes]
rs11608260	0.81[AMR][1000 genomes]
rs11612896	0.81[AMR][1000 genomes]
rs11829869	0.81[AMR][1000 genomes]
rs11830262	0.81[AMR][1000 genomes]
rs11832311	0.81[AMR][1000 genomes]
rs11833650	0.81[AMR][1000 genomes]
rs11834790	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11834979	0.81[AMR][1000 genomes]
rs11836243	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11836257	0.81[AMR][1000 genomes]
rs11837374	0.81[AMR][1000 genomes]
rs12424940	0.81[AMR][1000 genomes]
rs17123011	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17123105	0.81[AMR][1000 genomes]
rs17123106	0.81[AMR][1000 genomes]
rs17123108	0.81[AMR][1000 genomes]
rs2068293	0.81[AMR][1000 genomes]
rs34400124	0.81[AMR][1000 genomes]
rs4146339	0.84[AMR][1000 genomes]
rs4265629	0.81[AMR][1000 genomes]
rs4331150	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4332560	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4344535	0.81[AMR][1000 genomes]
rs4500527	0.81[AMR][1000 genomes]
rs4519134	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4573725	0.84[AMR][1000 genomes]
rs4620769	0.81[AMR][1000 genomes]
rs4760703	0.87[ASN][1000 genomes]
rs56796388	0.81[AMR][1000 genomes]
rs59872392	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60346212	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61324340	0.81[AMR][1000 genomes]
rs72644850	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72644851	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72644852	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72644853	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72644858	0.81[AMR][1000 genomes]
rs72644859	0.81[AMR][1000 genomes]
rs72644862	0.81[AMR][1000 genomes]
rs72644863	0.81[AMR][1000 genomes]
rs72644864	0.81[AMR][1000 genomes]
rs72644865	0.81[AMR][1000 genomes]
rs7973559	0.88[AMR][1000 genomes];0.85[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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48781400-48784200	Enhancers	Hela-S3	cervix
2	chr12:48781800-48784200	Enhancers	Rectal Smooth Muscle	rectum
3	chr12:48781800-48784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:48781800-48784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:48782400-48784200	Enhancers	NHDF-Ad	bronchial
6	chr12:48782600-48784200	Enhancers	Left Ventricle	heart
7	chr12:48782600-48784200	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:48782600-48784400	Enhancers	Adipose Nuclei	Adipose
9	chr12:48782800-48784200	Enhancers	Aorta	Aorta
10	chr12:48782800-48784200	Enhancers	Right Atrium	heart
11	chr12:48782800-48784400	Enhancers	Right Ventricle	heart
12	chr12:48783800-48784200	Enhancers	Brain Angular Gyrus	brain
13	chr12:48784000-48784200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:48784000-48784400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:48784000-48784400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:48784200-48784600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:48784200-48789800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links