Variant report

Variant	rs17519971
Chromosome Location	chr12:40698450-40698451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17490935	1.00[AMR][1000 genomes]
rs17491013	1.00[AMR][1000 genomes]
rs17491075	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491110	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491180	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17491368	1.00[AMR][1000 genomes]
rs17491375	1.00[AMR][1000 genomes]
rs17491431	1.00[AMR][1000 genomes]
rs17491445	1.00[AMR][1000 genomes]
rs17491638	1.00[AMR][1000 genomes]
rs17491645	1.00[AMR][1000 genomes]
rs17519888	1.00[AMR][1000 genomes]
rs17519964	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17520006	0.83[AFR][1000 genomes]
rs17520264	1.00[AMR][1000 genomes]
rs17520355	1.00[AMR][1000 genomes]
rs17520376	1.00[AMR][1000 genomes]
rs17520515	1.00[AMR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40620800-40704200	Weak transcription	Esophagus	oesophagus
2	chr12:40622800-40708800	Weak transcription	Left Ventricle	heart
3	chr12:40640600-40727400	Weak transcription	Spleen	Spleen
4	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
5	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:40659600-40711200	Weak transcription	Aorta	Aorta
7	chr12:40673400-40713400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:40674400-40760400	Weak transcription	Lung	lung
9	chr12:40677000-40712200	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:40679200-40699400	Weak transcription	Fetal Kidney	kidney
11	chr12:40680400-40709000	Weak transcription	Ovary	ovary
12	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:40684000-40722600	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:40684000-40722600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:40684000-40725000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:40690400-40709200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:40692400-40711600	Weak transcription	Adipose Nuclei	Adipose
19	chr12:40695600-40703800	Weak transcription	A549	lung
20	chr12:40695800-40723600	Weak transcription	Brain Angular Gyrus	brain
21	chr12:40696600-40701200	Strong transcription	Primary B cells from peripheral blood	blood
22	chr12:40697200-40700400	Strong transcription	Liver	Liver
23	chr12:40697400-40700600	Strong transcription	Primary B cells from cord blood	blood
24	chr12:40697600-40702800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:40697800-40703600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:40698000-40699200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:40698200-40698600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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