Variant report

Variant	rs3130012
Chromosome Location	chr6:33315523-33315524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs172435	0.82[EUR][1000 genomes]
rs1977139	0.85[EUR][1000 genomes]
rs211472	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2747476	0.84[EUR][1000 genomes]
rs2941555	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130013	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130104	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3130273	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs406009	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830634	chr6:33161217-33330745	Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv830635	chr6:33238005-33413787	Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
3	nsv969386	chr6:33297665-33325116	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33291800-33317400	Weak transcription	Right Atrium	heart
2	chr6:33312600-33317800	Enhancers	Stomach Mucosa	stomach
3	chr6:33313200-33316800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:33313400-33315600	Weak transcription	K562	blood
5	chr6:33313400-33317600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:33313800-33322000	Weak transcription	Primary T cells from cord blood	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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