Variant report

Variant	rs16830872
Chromosome Location	chr2:189806285-189806286
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1516440	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1516441	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17241638	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17291017	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17357358	0.86[AMR][1000 genomes]
rs17357387	0.86[AMR][1000 genomes]
rs17357408	0.86[AMR][1000 genomes]
rs1914028	0.92[EUR][1000 genomes]
rs1914029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1914030	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1914038	0.81[EUR][1000 genomes]
rs4308073	0.86[AMR][1000 genomes]
rs67712818	0.86[AMR][1000 genomes]
rs73033503	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73033510	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73045698	0.81[EUR][1000 genomes]
rs73050211	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73050212	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73050213	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73050229	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73052303	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73052342	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7609210	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv834490	chr2:189703550-189840963	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875608	chr2:189753823-189837995	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv1008398	chr2:189794993-189831353	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1845445	chr2:189796272-189823392	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1849974	chr2:189796272-189837995	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv584056	chr2:189796272-189841052	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
10	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875611	chr2:189799499-189837212	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189803200-189807200	Weak transcription	Aorta	Aorta
2	chr2:189806000-189811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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