Variant report

Variant	rs6565060
Chromosome Location	chr16:82750051-82750052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1075797	1.00[ASN][1000 genomes]
rs12385992	1.00[ASN][1000 genomes]
rs12443737	1.00[ASN][1000 genomes]
rs12443745	0.89[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12447750	1.00[ASN][1000 genomes]
rs12918559	1.00[ASN][1000 genomes]
rs12926585	1.00[ASN][1000 genomes]
rs12933997	1.00[ASN][1000 genomes]
rs2061630	1.00[ASN][1000 genomes]
rs2199433	1.00[ASN][1000 genomes]
rs28597677	1.00[ASN][1000 genomes]
rs4783269	1.00[ASN][1000 genomes]
rs6565064	1.00[ASN][1000 genomes]
rs7189966	1.00[ASN][1000 genomes]
rs7194913	1.00[ASN][1000 genomes]
rs7202898	1.00[ASN][1000 genomes]
rs72805961	1.00[ASN][1000 genomes]
rs72837572	1.00[ASN][1000 genomes]
rs72837573	1.00[ASN][1000 genomes]
rs72837574	1.00[ASN][1000 genomes]
rs72837576	1.00[ASN][1000 genomes]
rs72837577	1.00[ASN][1000 genomes]
rs8046873	0.89[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048332	1.00[ASN][1000 genomes]
rs922302	1.00[ASN][1000 genomes]
rs9930545	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532599	chr16:82074439-82926863	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	nsv573367	chr16:82140561-83040846	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1057341	chr16:82363800-83198907	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
4	nsv542997	chr16:82363800-83198907	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1059718	chr16:82564054-82810003	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv907023	chr16:82680391-82751932	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region miRNA	n/a	inside rSNPs	diseases
7	nsv1065303	chr16:82685793-82758280	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
8	nsv542999	chr16:82685793-82758280	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
9	nsv573379	chr16:82713551-82887631	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv907024	chr16:82713874-82768568	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
11	esv2751616	chr16:82714696-82852296	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
12	nsv907025	chr16:82718030-82768568	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA miRNA	n/a	inside rSNPs	diseases
13	nsv1067216	chr16:82719694-82821762	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
14	nsv543000	chr16:82719694-82821762	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82735400-82762000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr16:82737600-82763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:82746000-82761000	Weak transcription	HMEC	breast
4	chr16:82746200-82750800	Enhancers	Left Ventricle	heart
5	chr16:82746400-82750800	Enhancers	Right Ventricle	heart
6	chr16:82746400-82763000	Weak transcription	NH-A	brain
7	chr16:82747600-82750800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr16:82747800-82762200	Weak transcription	HUVEC	blood vessel
9	chr16:82748600-82750400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:82748600-82750800	Enhancers	Right Atrium	heart
11	chr16:82748800-82750200	Enhancers	Adipose Nuclei	Adipose
12	chr16:82748800-82750400	Enhancers	Aorta	Aorta
13	chr16:82748800-82750800	Enhancers	Psoas Muscle	Psoas
14	chr16:82748800-82751000	Enhancers	Brain Germinal Matrix	brain
15	chr16:82749200-82754600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:82749400-82750200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr16:82749400-82750800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr16:82749600-82750200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:82749600-82750400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:82749600-82750400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:82749600-82750400	Enhancers	Colon Smooth Muscle	Colon
22	chr16:82749600-82750400	Enhancers	Fetal Brain Female	brain
23	chr16:82749600-82750600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:82749600-82750600	Enhancers	HSMMtube	muscle
25	chr16:82749600-82750800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:82749600-82752000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:82749800-82756200	Weak transcription	NHEK	skin
28	chr16:82749800-82758400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:82749800-82768400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:82750000-82750200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr16:82750000-82750200	Flanking Active TSS	Fetal Heart	heart
32	chr16:82750000-82750400	Weak transcription	HSMM	muscle
33	chr16:82750000-82750800	Enhancers	Skeletal Muscle Female	skeletal muscle

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