Variant report

Variant	rs74109798
Chromosome Location	chr1:112523708-112523709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11800123	1.00[AMR][1000 genomes]
rs58420091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60522190	1.00[AMR][1000 genomes]
rs74109791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7514018	1.00[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	nsv831048	chr1:112459697-112680279	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv547556	chr1:112523095-112556776	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv463272	chr1:112523095-112556897	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr1:112507000-112523800	Weak transcription	Fetal Brain Female	brain
2	chr1:112507400-112524200	Weak transcription	Brain Substantia Nigra	brain
3	chr1:112507800-112524000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:112508600-112529400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:112510200-112529000	Weak transcription	Esophagus	oesophagus
6	chr1:112510800-112524000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:112510800-112524000	Weak transcription	Spleen	Spleen
8	chr1:112511200-112529800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:112511400-112531000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:112516600-112530200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:112517000-112525000	Strong transcription	Stomach Smooth Muscle	stomach
12	chr1:112517400-112524000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:112519400-112524200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:112519600-112528400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:112520000-112524200	Weak transcription	Colonic Mucosa	Colon
16	chr1:112520000-112524400	Weak transcription	Gastric	stomach
17	chr1:112520400-112523800	Weak transcription	Brain Angular Gyrus	brain
18	chr1:112520800-112530000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:112521000-112524200	Weak transcription	Aorta	Aorta
20	chr1:112522600-112524000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr1:112522600-112530800	Weak transcription	Lung	lung
22	chr1:112522800-112525600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:112522800-112530000	Weak transcription	Psoas Muscle	Psoas
24	chr1:112523000-112524000	Weak transcription	Right Ventricle	heart
25	chr1:112523200-112523800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:112523200-112524200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:112523400-112523800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr1:112523400-112524000	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:112523400-112524200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:112523600-112523800	Weak transcription	Pancreas	Pancrea
31	chr1:112523600-112524000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:112523600-112524400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:112523600-112524800	Strong transcription	Fetal Stomach	stomach
34	chr1:112523600-112525200	Strong transcription	Liver	Liver
35	chr1:112523600-112525200	Strong transcription	Left Ventricle	heart
36	chr1:112523600-112528400	Weak transcription	Right Atrium	heart

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