Variant report

Variant	rs1365770
Chromosome Location	chr12:40762303-40762304
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10459265	0.81[ASN][1000 genomes]
rs10467146	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10784548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176421	0.80[EUR][1000 genomes]
rs12314982	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12426362	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444221	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465528	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17466605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081700	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2081701	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2896982	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3761863	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789328	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3906483	0.88[EUR][1000 genomes]
rs4280068	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4351885	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767973	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768236	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4768237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5010412	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134408	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954318	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7968048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968721	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7975124	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7976715	0.88[ASN][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	nsv1044685	chr12:40574460-40771612	Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv832377	chr12:40704881-40855223	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv899032	chr12:40735939-40827479	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv558598	chr12:40742363-40828264	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv899033	chr12:40758652-41122288	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:40726200-40766600	Weak transcription	A549	lung
5	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:40747200-40762400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr12:40747800-40765000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:40747800-40765200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:40751400-40762600	Strong transcription	Liver	Liver
11	chr12:40751800-40763600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:40754800-40764000	Weak transcription	Esophagus	oesophagus
13	chr12:40754800-40765600	Weak transcription	Aorta	Aorta
14	chr12:40754800-40767600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:40756000-40763600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:40758200-40765600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:40759000-40765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:40759200-40764000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:40760000-40765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40762000-40764200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:40762200-40762800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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