Variant report

Variant	rs9973573
Chromosome Location	chr2:179094448-179094449
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13402888	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13425411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7603411	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9808156	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179079000-179101200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:179084600-179094800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:179088800-179095800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:179090800-179095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:179091200-179101200	Weak transcription	Psoas Muscle	Psoas
7	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
8	chr2:179092200-179094600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:179092200-179102400	Weak transcription	NHDF-Ad	bronchial
10	chr2:179092800-179098200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:179093800-179096600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:179094200-179095000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:179094200-179095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:179094200-179095600	Enhancers	NHEK	skin
15	chr2:179094200-179096200	Enhancers	HMEC	breast
16	chr2:179094400-179095000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:179094400-179095400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:179094400-179096000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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