Variant report

Variant	rs6104967
Chromosome Location	chr20:12733996-12733997
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]
rs12329559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6104962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6104963	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6104964	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6104966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6109535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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
4	nsv1057219	chr20:12729479-13338337	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1065145	chr20:12729803-12781534	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
6	nsv522376	chr20:12730872-12771339	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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	chr20:12729800-12740800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:12732000-12734200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:12732000-12734600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr20:12732600-12734000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr20:12732800-12734200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr20:12732800-12734200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:12733200-12734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:12733200-12738600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr20:12733600-12734000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr20:12733600-12734000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:12733600-12734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr20:12733600-12734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:12733600-12734800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:12733800-12736800	Active TSS	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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