Variant report

Variant	rs12423419
Chromosome Location	chr12:40707501-40707502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10506146	1.00[JPT][hapmap]
rs10506154	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10878244	1.00[JPT][hapmap]
rs11564107	0.80[AMR][1000 genomes]
rs11564108	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11564131	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564152	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs11564153	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11564185	1.00[AFR][1000 genomes]
rs11564187	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11564190	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11564196	1.00[JPT][hapmap]
rs11564209	1.00[AFR][1000 genomes]
rs11564210	1.00[JPT][hapmap];0.84[AMR][1000 genomes]
rs11564266	0.84[AMR][1000 genomes]
rs11564271	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12422278	0.82[AMR][1000 genomes]
rs12422527	0.82[AMR][1000 genomes]
rs12422544	1.00[JPT][hapmap]
rs12422796	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs12423551	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12425561	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12426639	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12426643	1.00[EUR][1000 genomes]
rs12427245	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs1365768	0.84[AMR][1000 genomes]
rs1365769	0.84[AMR][1000 genomes]
rs1373442	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1388585	1.00[JPT][hapmap]
rs1388597	1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1463717	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs1491945	0.85[AMR][1000 genomes]
rs17443600	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17443656	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17443882	1.00[CHB][hapmap]
rs17444028	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17444054	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs17461387	1.00[EUR][1000 genomes]
rs17461664	1.00[AFR][1000 genomes]
rs17461692	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17465723	1.00[CHB][hapmap]
rs17466016	0.81[AMR][1000 genomes]
rs17483919	1.00[EUR][1000 genomes]
rs17484141	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17484176	1.00[CHB][hapmap]
rs17484342	0.88[AMR][1000 genomes]
rs17484493	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17484541	0.80[AMR][1000 genomes]
rs17491124	1.00[CHB][hapmap]
rs17491445	1.00[CHB][hapmap]
rs17497380	1.00[CHB][hapmap]
rs2131081	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs28365206	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28365229	0.88[AMR][1000 genomes]
rs34567498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36212067	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs36220738	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs3789329	0.82[AMR][1000 genomes]
rs4628750	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4767962	1.00[EUR][1000 genomes]
rs4767964	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768226	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4768228	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
2	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
3	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
4	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
6	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:40674400-40760400	Weak transcription	Lung	lung
8	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:40680400-40709000	Weak transcription	Ovary	ovary
10	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:40690400-40709200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:40692400-40711600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:40699600-40721800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr12:40704400-40709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:40704400-40723800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:40704600-40708000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:40704800-40709000	Weak transcription	Liver	Liver
23	chr12:40705600-40722400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:40706800-40707800	Weak transcription	Primary B cells from cord blood	blood
25	chr12:40706800-40709200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:40706800-40722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:40707000-40708200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:40707000-40719000	Weak transcription	A549	lung
29	chr12:40707200-40707600	Enhancers	GM12878-XiMat	blood

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