Variant report

Variant	rs6759450
Chromosome Location	chr2:183086884-183086885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10182266	1.00[MEX][hapmap]
rs10209868	0.81[AFR][1000 genomes]
rs13432152	1.00[MEX][hapmap]
rs1347732	1.00[MEX][hapmap]
rs2448980	1.00[MEX][hapmap]
rs2623421	1.00[MEX][hapmap]
rs2623432	1.00[MEX][hapmap]
rs2623436	1.00[MEX][hapmap]
rs6740124	1.00[MEX][hapmap]
rs6744832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7578466	1.00[MEX][hapmap]
rs833122	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583913	chr2:183043563-183243313	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1008825	chr2:183067339-183228668	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv536066	chr2:183067339-183228668	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1807941	chr2:183068844-183091601	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	esv1814932	chr2:183068844-183091601	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv1805740	chr2:183086478-183091601	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	esv1811059	chr2:183086478-183091601	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv1814860	chr2:183086478-183091601	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	inside rSNPs	diseases
10	esv1805452	chr2:183086478-183107270	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1809585	chr2:183086478-183107270	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183065800-183087600	Weak transcription	Aorta	Aorta
2	chr2:183065800-183087600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:183084400-183090600	Weak transcription	Fetal Kidney	kidney
4	chr2:183084400-183095200	Weak transcription	Left Ventricle	heart
5	chr2:183085400-183087000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:183085400-183096600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:183086400-183088800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:183086400-183089200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183086600-183087000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:183086800-183087000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:183086800-183088400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:183086800-183088400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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