Variant report

Variant	rs346060
Chromosome Location	chr19:44199523-44199524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10409774	0.93[EUR][1000 genomes]
rs1808261	0.98[EUR][1000 genomes]
rs28468406	0.84[EUR][1000 genomes]
rs28633233	1.00[EUR][1000 genomes]
rs28677840	0.84[EUR][1000 genomes]
rs346058	0.93[EUR][1000 genomes]
rs346061	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4802191	0.84[EUR][1000 genomes]
rs4802192	0.84[EUR][1000 genomes]
rs59684608	0.84[EUR][1000 genomes]
rs740588	0.98[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	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv819607	chr19:44196593-44201200	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:44198400-44199600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr19:44198400-44200800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:44199200-44199600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44199200-44200400	Weak transcription	A549	lung
6	chr19:44199400-44200000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr19:44199400-44203400	Weak transcription	Rectal Mucosa Donor 31	rectum

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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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