Variant report

Variant	rs73032543
Chromosome Location	chr2:179183617-179183618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57013457	1.00[AMR][1000 genomes]
rs58187781	1.00[AMR][1000 genomes]
rs61440148	1.00[AMR][1000 genomes]
rs73030631	1.00[AMR][1000 genomes]
rs73032545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032548	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73032576	1.00[AMR][1000 genomes]
rs73034341	1.00[AMR][1000 genomes]
rs7563966	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	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	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179143200-179188600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:179160200-179188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:179164600-179200800	Weak transcription	Aorta	Aorta
4	chr2:179176200-179198000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:179180600-179184000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:179180800-179184400	Weak transcription	Liver	Liver
7	chr2:179181000-179188600	Weak transcription	K562	blood
8	chr2:179182400-179184800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:179182400-179185400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:179182600-179183800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:179183200-179183800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:179183400-179183800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:179183400-179183800	Enhancers	Psoas Muscle	Psoas
14	chr2:179183400-179184200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:179183400-179184600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr2:179183600-179183800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:179183600-179184600	Weak transcription	Primary hematopoietic stem cells	blood

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Input of quick search could be:

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

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