Variant report

Variant	rs4332560
Chromosome Location	chr12:48808562-48808563
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11168550	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11168584	0.85[AMR][1000 genomes]
rs11168601	0.82[AMR][1000 genomes]
rs11608260	0.85[AMR][1000 genomes]
rs11612896	0.85[AMR][1000 genomes]
rs11829869	0.85[AMR][1000 genomes]
rs11830262	0.85[AMR][1000 genomes]
rs11832311	0.85[AMR][1000 genomes]
rs11833650	0.85[AMR][1000 genomes]
rs11834790	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11834979	0.85[AMR][1000 genomes]
rs11836243	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836257	0.85[AMR][1000 genomes]
rs11837374	0.85[AMR][1000 genomes]
rs12424940	0.85[AMR][1000 genomes]
rs17123011	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17123105	0.85[AMR][1000 genomes]
rs17123106	0.85[AMR][1000 genomes]
rs17123108	0.85[AMR][1000 genomes]
rs2068293	0.85[AMR][1000 genomes]
rs2731098	0.83[AMR][1000 genomes]
rs34400124	0.85[AMR][1000 genomes]
rs4146339	0.87[AMR][1000 genomes]
rs4265629	0.85[AMR][1000 genomes]
rs4331150	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4344535	0.85[AMR][1000 genomes]
rs4500527	0.85[AMR][1000 genomes]
rs4519134	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592463	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4620769	0.85[AMR][1000 genomes]
rs4760702	1.00[CEU][hapmap]
rs56796388	0.85[AMR][1000 genomes]
rs59872392	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60346212	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72644850	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72644851	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72644852	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72644853	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72644858	0.85[AMR][1000 genomes]
rs72644859	0.85[AMR][1000 genomes]
rs72644862	0.85[AMR][1000 genomes]
rs72644863	0.85[AMR][1000 genomes]
rs72644864	0.85[AMR][1000 genomes]
rs72644865	0.85[AMR][1000 genomes]
rs7973559	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][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	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48807000-48808600	Enhancers	Rectal Smooth Muscle	rectum
2	chr12:48807000-48808800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:48807000-48809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr12:48807000-48809000	Enhancers	Fetal Lung	lung
5	chr12:48807200-48808600	Enhancers	Brain Angular Gyrus	brain
6	chr12:48807200-48808600	Enhancers	Brain Cingulate Gyrus	brain
7	chr12:48807200-48808800	Enhancers	Ovary	ovary
8	chr12:48807600-48808600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:48807600-48808600	Enhancers	Fetal Stomach	stomach
10	chr12:48807600-48808800	Enhancers	Fetal Brain Male	brain
11	chr12:48807800-48808600	Enhancers	Brain Hippocampus Middle	brain
12	chr12:48807800-48808800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr12:48807800-48809200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:48808200-48808600	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr12:48808200-48808800	Enhancers	Right Atrium	heart
16	chr12:48808200-48808800	Enhancers	Stomach Smooth Muscle	stomach
17	chr12:48808200-48813000	Weak transcription	K562	blood
18	chr12:48808200-48813400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:48808400-48808800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:48808400-48808800	Enhancers	Placenta	Placenta
21	chr12:48808400-48808800	Enhancers	Left Ventricle	heart
22	chr12:48808400-48808800	Enhancers	Spleen	Spleen
23	chr12:48808400-48813200	Weak transcription	Adipose Nuclei	Adipose

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