Variant report

Variant	rs4802191
Chromosome Location	chr19:44201167-44201168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13344768	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13344919	0.87[ASN][1000 genomes]
rs1808261	0.82[EUR][1000 genomes]
rs28468406	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633233	0.84[EUR][1000 genomes]
rs28677840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs346060	0.84[EUR][1000 genomes]
rs346061	0.84[EUR][1000 genomes]
rs4802190	0.94[ASN][1000 genomes]
rs4802192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802193	0.87[ASN][1000 genomes]
rs519137	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs520130	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59684608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73560528	0.90[ASN][1000 genomes]
rs740588	0.82[EUR][1000 genomes]
rs740590	0.98[ASN][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:6 , 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	chr19:44199400-44203400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:44199600-44201600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:44200600-44204200	Weak transcription	A549	lung
5	chr19:44200800-44201200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr19:44201000-44204600	Weak transcription	K562	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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