Variant report

Variant	rs1599602
Chromosome Location	chr19:52985361-52985362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs324093	1.00[EUR][1000 genomes]
rs324094	1.00[EUR][1000 genomes]
rs324095	1.00[EUR][1000 genomes]
rs324097	1.00[EUR][1000 genomes]
rs324098	1.00[EUR][1000 genomes]
rs324099	1.00[EUR][1000 genomes]
rs324100	1.00[EUR][1000 genomes]
rs324101	1.00[EUR][1000 genomes]
rs324102	1.00[EUR][1000 genomes]
rs324105	1.00[EUR][1000 genomes]
rs326450	1.00[EUR][1000 genomes]
rs59465772	1.00[EUR][1000 genomes]
rs60186879	1.00[EUR][1000 genomes]
rs60952057	1.00[EUR][1000 genomes]
rs61039331	1.00[EUR][1000 genomes]
rs8101762	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	esv2762048	chr19:52895166-52997571	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv580026	chr19:52937100-53059872	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1063648	chr19:52938131-53041119	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv978841	chr19:52983057-53088237	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52956000-52986200	ZNF genes & repeats	Liver	Liver
2	chr19:52957800-52990400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:52963400-52987600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:52967800-52990600	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr19:52971800-52986000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:52978400-52985800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr19:52982400-52985600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:52983400-52986000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
9	chr19:52984200-52986000	ZNF genes & repeats	Ovary	ovary
10	chr19:52984400-52985600	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr19:52984400-52985800	ZNF genes & repeats	Brain Anterior Caudate	brain
12	chr19:52984400-52986000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr19:52985000-52985600	ZNF genes & repeats	Right Atrium	heart
14	chr19:52985200-52985600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr19:52985200-52987800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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