Variant report

Variant	rs71324983
Chromosome Location	chr3:49680225-49680226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs71324972	1.00[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	nsv508217	chr3:49615446-49769896	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1011428	chr3:49649989-49706068	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv3812	chr3:49669773-49680587	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49657600-49685400	Weak transcription	Brain Substantia Nigra	brain
2	chr3:49660800-49682600	Weak transcription	Liver	Liver
3	chr3:49661600-49692400	Weak transcription	Ovary	ovary
4	chr3:49661800-49682200	Weak transcription	Fetal Brain Male	brain
5	chr3:49662800-49685000	Weak transcription	Right Ventricle	heart
6	chr3:49664200-49683200	Weak transcription	Pancreas	Pancrea
7	chr3:49669400-49692000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:49673800-49692400	Weak transcription	Gastric	stomach
9	chr3:49675000-49680400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr3:49675400-49688200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:49676000-49686400	Weak transcription	Spleen	Spleen
12	chr3:49676200-49692000	Weak transcription	Esophagus	oesophagus
13	chr3:49676400-49687000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:49676600-49680400	Weak transcription	HepG2	liver
15	chr3:49679000-49682400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:49679400-49683000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:49679600-49680400	Enhancers	Fetal Muscle Leg	muscle
18	chr3:49679600-49680600	Enhancers	Psoas Muscle	Psoas
19	chr3:49679600-49681200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:49679600-49687000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:49679800-49681000	Strong transcription	Fetal Stomach	stomach
22	chr3:49679800-49681400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:49679800-49683000	Strong transcription	Fetal Brain Female	brain
24	chr3:49679800-49683200	Strong transcription	Brain Germinal Matrix	brain
25	chr3:49679800-49687600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr3:49680000-49681200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:49680000-49681600	Strong transcription	Brain Angular Gyrus	brain
28	chr3:49680000-49682000	Strong transcription	Brain Hippocampus Middle	brain
29	chr3:49680000-49682200	Strong transcription	Brain Cingulate Gyrus	brain
30	chr3:49680000-49682600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:49680000-49684800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:49680200-49682000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:49680200-49682400	Strong transcription	Brain Anterior Caudate	brain
34	chr3:49680200-49684400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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