Variant report

Variant	rs33995883
Chromosome Location	chr12:40740686-40740687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10506154	0.87[EUR][1000 genomes]
rs12426639	0.87[EUR][1000 genomes]
rs17443909	0.80[EUR][1000 genomes]
rs17444103	0.86[EUR][1000 genomes]
rs17484493	0.87[EUR][1000 genomes]
rs28365229	0.80[EUR][1000 genomes]
rs72547977	0.80[EUR][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	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40640600-40768200	Weak transcription	Pancreas	Pancrea
2	chr12:40656800-40746400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr12:40674400-40760400	Weak transcription	Lung	lung
4	chr12:40681200-40763000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:40687200-40765000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:40712000-40743400	Weak transcription	Aorta	Aorta
7	chr12:40714200-40759200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr12:40716800-40761600	Weak transcription	Fetal Kidney	kidney
9	chr12:40722800-40755800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:40724600-40745400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:40724800-40751000	Weak transcription	Brain Anterior Caudate	brain
12	chr12:40725200-40761200	Weak transcription	Psoas Muscle	Psoas
13	chr12:40726200-40766600	Weak transcription	A549	lung
14	chr12:40726200-40767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:40729800-40756000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:40730000-40745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:40730000-40747000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:40730000-40760000	Weak transcription	Spleen	Spleen
19	chr12:40730400-40745400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr12:40732000-40745800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:40732000-40757200	Weak transcription	Right Ventricle	heart
22	chr12:40732200-40743000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:40732800-40764000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:40733200-40757000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:40733400-40745600	Weak transcription	Adipose Nuclei	Adipose
26	chr12:40733600-40761400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:40734600-40754200	Weak transcription	Esophagus	oesophagus
28	chr12:40735400-40745400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:40735600-40747000	Weak transcription	Brain Angular Gyrus	brain
30	chr12:40737000-40742800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:40737000-40743600	Weak transcription	Ovary	ovary
32	chr12:40737000-40751600	Weak transcription	Left Ventricle	heart
33	chr12:40737200-40754000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:40740000-40741000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr12:40740400-40744000	Strong transcription	Liver	Liver
36	chr12:40740400-40745600	Strong transcription	Primary B cells from cord blood	blood

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