Variant report

Variant	rs16829423
Chromosome Location	chr2:134545308-134545309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs13424416	1.00[EUR][1000 genomes]
rs16829506	1.00[EUR][1000 genomes]
rs16829743	1.00[EUR][1000 genomes]
rs16829792	1.00[EUR][1000 genomes]
rs16829808	1.00[EUR][1000 genomes]
rs34979285	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56170261	1.00[EUR][1000 genomes]
rs57028673	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57898906	1.00[EUR][1000 genomes]
rs58799403	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59471650	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59601058	1.00[EUR][1000 genomes]
rs59785320	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60573351	1.00[EUR][1000 genomes]
rs61290996	1.00[EUR][1000 genomes]
rs61465743	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6430445	1.00[EUR][1000 genomes]
rs6726548	1.00[EUR][1000 genomes]
rs6745294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6753469	1.00[EUR][1000 genomes]
rs6757963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72999768	1.00[EUR][1000 genomes]
rs72999775	1.00[EUR][1000 genomes]
rs72999782	1.00[EUR][1000 genomes]
rs72999787	1.00[EUR][1000 genomes]
rs72999793	1.00[EUR][1000 genomes]
rs73003855	1.00[EUR][1000 genomes]
rs73003879	1.00[EUR][1000 genomes]
rs73003897	1.00[EUR][1000 genomes]
rs73003900	1.00[EUR][1000 genomes]
rs73005709	1.00[EUR][1000 genomes]
rs73005714	1.00[EUR][1000 genomes]
rs73005722	1.00[EUR][1000 genomes]
rs73005734	1.00[EUR][1000 genomes]
rs73007661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73957243	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73960110	1.00[EUR][1000 genomes]
rs7584447	1.00[EUR][1000 genomes]
rs7592843	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2565133	chr2:134544025-134545570	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134538200-134547600	Weak transcription	Fetal Heart	heart
2	chr2:134542600-134545800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:134542800-134547600	Weak transcription	HUVEC	blood vessel
4	chr2:134544000-134549400	Enhancers	Osteobl	bone
5	chr2:134544600-134546600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:134544600-134546600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:134544600-134546800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134544600-134549600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:134544600-134549800	Enhancers	NHDF-Ad	bronchial
10	chr2:134544800-134546000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:134544800-134546200	Enhancers	NH-A	brain
12	chr2:134544800-134546800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:134544800-134549600	Enhancers	NHLF	lung
14	chr2:134545000-134557000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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