Variant report

Variant	rs775126
Chromosome Location	chr20:16030196-16030197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1225890	0.89[CEU][hapmap]
rs1225891	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1238278	0.89[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs16997014	0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs6034360	0.89[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs6034361	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6080106	0.95[CHB][hapmap];0.97[CHD][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv585649	chr20:16004320-16066764	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16023800-16030200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr20:16024600-16030200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:16024600-16031400	Weak transcription	Fetal Brain Female	brain
4	chr20:16028800-16030800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:16029200-16031000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr20:16029400-16033800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr20:16029600-16031200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr20:16029600-16031400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:16029600-16034200	Enhancers	Brain Germinal Matrix	brain
10	chr20:16029800-16031600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:16030000-16031000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr20:16030000-16031200	Genic enhancers	Primary B cells from cord blood	blood
13	chr20:16030000-16031800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr20:16030000-16032200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr20:16030000-16032400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:16030000-16033000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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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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