Variant report

Variant	rs6543712
Chromosome Location	chr2:33671165-33671166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11684415	0.89[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs13014054	0.90[CHD][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1551484	0.89[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs1551485	0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs7603061	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897503	0.90[CHD][hapmap];0.89[ASN][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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv2762447	chr2:33643724-33674484	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv517737	chr2:33664350-33676440	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33663200-33671400	Weak transcription	Right Ventricle	heart
2	chr2:33667400-33671400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:33668400-33673200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:33668800-33685200	Weak transcription	HUVEC	blood vessel
5	chr2:33669200-33671200	Enhancers	Fetal Heart	heart
6	chr2:33670000-33671200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:33670200-33675200	Weak transcription	Psoas Muscle	Psoas
8	chr2:33670400-33673400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:33670600-33671400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:33671000-33671200	Enhancers	Liver	Liver
11	chr2:33671000-33671400	Enhancers	Primary hematopoietic stem cells	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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