Variant report

Variant	rs12423551
Chromosome Location	chr12:40672594-40672595
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10506144	1.00[JPT][hapmap]
rs10506146	1.00[JPT][hapmap]
rs10506154	1.00[AFR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11175186	1.00[JPT][hapmap]
rs11564108	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11564123	1.00[JPT][hapmap]
rs11564131	1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11564153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11564185	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11564187	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11564190	1.00[EUR][1000 genomes]
rs11564196	1.00[JPT][hapmap]
rs11564209	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11564210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11564216	1.00[JPT][hapmap]
rs11564271	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12422544	1.00[JPT][hapmap]
rs12422796	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12423419	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12423566	1.00[CHB][hapmap]
rs12424294	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12425561	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12426639	1.00[AFR][1000 genomes]
rs12426643	1.00[EUR][1000 genomes]
rs12427022	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12427245	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1373442	1.00[EUR][1000 genomes]
rs1388585	1.00[JPT][hapmap]
rs1388597	1.00[JPT][hapmap]
rs1463717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1491945	0.84[AMR][1000 genomes]
rs17443600	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17443656	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17444028	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17444054	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17461387	1.00[EUR][1000 genomes]
rs17461664	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs17461692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17466016	1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17483919	1.00[EUR][1000 genomes]
rs17484141	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17484342	0.94[ASN][1000 genomes]
rs17484493	1.00[AFR][1000 genomes]
rs2131081	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs28365206	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365229	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs34567498	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36212067	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs36220738	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4628750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4767962	1.00[EUR][1000 genomes]
rs4767964	1.00[EUR][1000 genomes]
rs4768213	1.00[JPT][hapmap]
rs4768226	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4768228	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1042967	chr12:40629636-40710319	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40619600-40678400	Weak transcription	Right Ventricle	heart
2	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
3	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
4	chr12:40630600-40686400	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:40640200-40680400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
7	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
8	chr12:40642200-40682400	Weak transcription	Brain Hippocampus Middle	brain
9	chr12:40647600-40674000	Weak transcription	Lung	lung
10	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:40659400-40677800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:40659400-40678600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:40659400-40678600	Weak transcription	Ovary	ovary
14	chr12:40659400-40682200	Weak transcription	Brain Anterior Caudate	brain
15	chr12:40659400-40686400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:40659600-40677000	Weak transcription	A549	lung
17	chr12:40659600-40680000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:40659600-40680200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:40659600-40694600	Weak transcription	Psoas Muscle	Psoas
20	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
21	chr12:40661000-40683400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:40661600-40683600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:40661600-40696400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr12:40667400-40678400	Weak transcription	Fetal Kidney	kidney
25	chr12:40670000-40672600	Strong transcription	Adipose Nuclei	Adipose
26	chr12:40670000-40674200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:40670000-40674600	Strong transcription	Liver	Liver
28	chr12:40670400-40684000	Weak transcription	Brain Angular Gyrus	brain
29	chr12:40670800-40683600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:40671200-40681600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:40671400-40674400	Strong transcription	Primary B cells from cord blood	blood
32	chr12:40671600-40672800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:40671600-40673000	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:40671800-40674600	Weak transcription	Fetal Stomach	stomach

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