Variant report

Variant	rs6013775
Chromosome Location	chr20:52345810-52345811
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6013774	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6068638	0.80[AMR][1000 genomes]
rs73136235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73136237	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8125426	0.82[AMR][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	nsv1055342	chr20:52126973-52352323	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	214 gene(s)	inside rSNPs	diseases
2	esv3412883	chr20:52176349-52393416	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	250 gene(s)	inside rSNPs	diseases
3	nsv834007	chr20:52213864-52404557	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	174 gene(s)	inside rSNPs	diseases
4	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52331200-52352600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:52338600-52346000	Weak transcription	Primary B cells from cord blood	blood
3	chr20:52341800-52354800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:52342000-52352200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr20:52342400-52346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr20:52344600-52347200	Enhancers	HepG2	liver
7	chr20:52344800-52346000	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr20:52344800-52348000	Weak transcription	Placenta	Placenta
9	chr20:52345000-52346200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr20:52345200-52346200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr20:52345600-52346000	Enhancers	GM12878-XiMat	blood
12	chr20:52345600-52347200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr20:52345600-52347600	Enhancers	Primary B cells from peripheral blood	blood
14	chr20:52345800-52346600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr20:52345800-52347200	Enhancers	Fetal Thymus	thymus
16	chr20:52345800-52347200	Enhancers	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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