Variant report

Variant	rs74077418
Chromosome Location	chr12:41681841-41681842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56017096	1.00[AFR][1000 genomes]
rs56153237	1.00[AFR][1000 genomes]
rs57534395	1.00[AFR][1000 genomes]
rs57596398	1.00[AFR][1000 genomes]
rs58740899	1.00[AFR][1000 genomes]
rs59508383	1.00[AFR][1000 genomes]
rs59916835	1.00[AFR][1000 genomes]
rs61065876	1.00[AFR][1000 genomes]
rs74077144	1.00[AFR][1000 genomes]
rs74077147	1.00[AFR][1000 genomes]
rs74077172	1.00[AFR][1000 genomes]
rs74077178	1.00[AFR][1000 genomes]
rs74077549	1.00[AFR][1000 genomes]
rs74077579	1.00[AFR][1000 genomes]
rs74078815	1.00[AFR][1000 genomes]
rs74078827	1.00[AFR][1000 genomes]
rs74078833	1.00[AFR][1000 genomes]
rs74078836	1.00[AFR][1000 genomes]
rs74078839	1.00[AFR][1000 genomes]
rs74078861	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41671200-41684600	Weak transcription	Ovary	ovary
2	chr12:41679800-41682600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr12:41680000-41682200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:41680000-41682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:41680200-41682200	Enhancers	Fetal Lung	lung
6	chr12:41680400-41682000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:41680400-41682000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:41680400-41682000	Enhancers	Brain Anterior Caudate	brain
9	chr12:41680400-41683600	Enhancers	Fetal Kidney	kidney
10	chr12:41680600-41682000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:41680600-41688000	Weak transcription	Aorta	Aorta
12	chr12:41680800-41682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:41681000-41682000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:41681000-41682200	Enhancers	Brain Hippocampus Middle	brain
15	chr12:41681000-41682600	Enhancers	Fetal Intestine Large	intestine
16	chr12:41681200-41682000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:41681200-41682000	Enhancers	Brain Cingulate Gyrus	brain
18	chr12:41681400-41682000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr12:41681400-41682800	Enhancers	Brain Germinal Matrix	brain
20	chr12:41681600-41682000	Enhancers	Fetal Intestine Small	intestine
21	chr12:41681600-41682200	Enhancers	Fetal Stomach	stomach
22	chr12:41681600-41682400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:41681800-41685800	Weak transcription	Pancreatic Islets	Pancreatic Islet

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