Variant report

Variant	rs2542311
Chromosome Location	chr19:40533746-40533747
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10410695	1.00[AMR][1000 genomes]
rs10421829	0.86[YRI][hapmap]
rs170898	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs234316	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs234319	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs234321	0.92[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs234322	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs234327	0.89[YRI][hapmap];0.84[AMR][1000 genomes]
rs234338	0.92[ASW][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];0.83[AFR][1000 genomes]
rs234339	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs234342	1.00[AMR][1000 genomes]
rs234359	0.92[ASW][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2354775	1.00[JPT][hapmap]
rs2531363	0.96[YRI][hapmap];0.81[AFR][1000 genomes]
rs28589691	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs28661993	1.00[AMR][1000 genomes]
rs337796	0.92[YRI][hapmap]
rs420413	0.83[AFR][1000 genomes]
rs7260610	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40504000-40533800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:40521200-40540800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:40528600-40543800	ZNF genes & repeats	Liver	Liver
4	chr19:40529000-40543800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:40529200-40543800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:40529200-40543800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr19:40529400-40533800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr19:40529400-40534200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr19:40530600-40543800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:40532400-40534600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:40532600-40535000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr19:40532800-40534000	ZNF genes & repeats	Aorta	Aorta
13	chr19:40532800-40534200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:40533600-40534000	ZNF genes & repeats	Left Ventricle	heart
15	chr19:40533600-40535200	ZNF genes & repeats	Dnd41	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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