Variant report

Variant	rs6104965
Chromosome Location	chr20:12729400-12729401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1333393	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6041589	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6041592	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6109536	0.98[EUR][1000 genomes]
rs6109539	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7362354	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058919	chr20:11917331-12733316	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv544183	chr20:11917331-12733316	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv18943	chr20:12627634-12841804	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv585433	chr20:12724326-12756660	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
5	nsv1066818	chr20:12729400-12781534	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12728000-12732000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr20:12728600-12730000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr20:12728600-12730400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:12728600-12733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr20:12728600-12733000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr20:12728800-12729400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr20:12728800-12729400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:12728800-12729800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr20:12728800-12729800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:12728800-12730000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:12728800-12733200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr20:12729000-12729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:12729400-12729800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr20:12729400-12730600	Enhancers	H1 Cell Line	embryonic stem cell

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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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