Variant report

Variant	rs9473169
Chromosome Location	chr6:12993720-12993721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10440826	1.00[AMR][1000 genomes]
rs11966454	1.00[AMR][1000 genomes]
rs11967029	1.00[AMR][1000 genomes]
rs34367742	1.00[AMR][1000 genomes]
rs56275338	1.00[AMR][1000 genomes]
rs7357013	1.00[AMR][1000 genomes]
rs73723398	1.00[AMR][1000 genomes]
rs73723401	1.00[AMR][1000 genomes]
rs7453683	1.00[AMR][1000 genomes]
rs9395425	1.00[AMR][1000 genomes]
rs9463366	1.00[AMR][1000 genomes]
rs9463368	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9463382	1.00[AMR][1000 genomes]
rs9463409	1.00[AMR][1000 genomes]
rs9463422	1.00[AMR][1000 genomes]
rs9463445	1.00[AMR][1000 genomes]
rs9473055	1.00[AMR][1000 genomes]
rs9473057	1.00[AMR][1000 genomes]
rs9473074	1.00[YRI][hapmap]
rs9473110	1.00[AMR][1000 genomes]
rs9473206	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9473293	1.00[AMR][1000 genomes]
rs9473351	1.00[AMR][1000 genomes]
rs9473352	1.00[AMR][1000 genomes]
rs9473417	1.00[AMR][1000 genomes]
rs9473483	1.00[AMR][1000 genomes]
rs9473484	1.00[AMR][1000 genomes]
rs9473487	1.00[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	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr6:12979600-13001800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:12982600-13002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:12988800-13006000	Weak transcription	Aorta	Aorta
4	chr6:12992600-12993800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:12992800-12993800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:12992800-12994000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:12992800-12994000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:12992800-12994200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr6:12993000-12993800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:12993400-12993800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr6:12993400-12994000	Active TSS	Right Atrium	heart
12	chr6:12993600-12993800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:12993600-12994000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:12993600-12994000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr6:12993600-12994000	Active TSS	Left Ventricle	heart
16	chr6:12993600-12994200	Active TSS	Adipose Nuclei	Adipose

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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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