Variant report

Variant	rs73979298
Chromosome Location	chr2:191450265-191450266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs4129213	1.00[AFR][1000 genomes]
rs55684676	1.00[AFR][1000 genomes]
rs56123211	1.00[AFR][1000 genomes]
rs56171560	1.00[AFR][1000 genomes]
rs56179440	0.83[AFR][1000 genomes]
rs56218257	1.00[AFR][1000 genomes]
rs56392719	1.00[AFR][1000 genomes]
rs56872342	1.00[AFR][1000 genomes]
rs60268167	1.00[AFR][1000 genomes]
rs73979288	0.84[AFR][1000 genomes]
rs73979292	0.85[AFR][1000 genomes]
rs73979295	1.00[AFR][1000 genomes]
rs73979296	0.83[AFR][1000 genomes]
rs73979299	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191436800-191457000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:191443800-191456600	Weak transcription	Psoas Muscle	Psoas
3	chr2:191444200-191456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:191445400-191450800	Enhancers	Fetal Stomach	stomach
5	chr2:191447600-191451200	Enhancers	NHDF-Ad	bronchial
6	chr2:191448600-191450800	Enhancers	Fetal Lung	lung
7	chr2:191448800-191453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:191448800-191461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:191449000-191457800	Weak transcription	Hela-S3	cervix
10	chr2:191449400-191450600	Enhancers	Brain Substantia Nigra	brain
11	chr2:191449600-191450800	Enhancers	Fetal Brain Male	brain
12	chr2:191449800-191450400	Enhancers	Brain Anterior Caudate	brain
13	chr2:191449800-191450400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:191449800-191450400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:191449800-191450600	Enhancers	Fetal Heart	heart
16	chr2:191450000-191450400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:191450000-191450600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:191450000-191450600	Enhancers	GM12878-XiMat	blood
19	chr2:191450200-191450400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:191450200-191450400	Enhancers	Placenta	Placenta
21	chr2:191450200-191450400	Enhancers	NHLF	lung
22	chr2:191450200-191450600	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:191450200-191450600	Enhancers	Esophagus	oesophagus
24	chr2:191450200-191450600	Enhancers	Left Ventricle	heart
25	chr2:191450200-191450600	Enhancers	Right Atrium	heart
26	chr2:191450200-191450600	Enhancers	Right Ventricle	heart
27	chr2:191450200-191450600	Enhancers	K562	blood
28	chr2:191450200-191450800	Enhancers	Brain Angular Gyrus	brain

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