Variant report

Variant	rs58685808
Chromosome Location	chr16:82692465-82692466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11863510	0.81[ASN][1000 genomes]
rs11866558	0.84[ASN][1000 genomes]
rs11866677	0.84[ASN][1000 genomes]
rs11866729	0.84[ASN][1000 genomes]
rs11866737	0.84[ASN][1000 genomes]
rs16957965	0.81[ASN][1000 genomes]
rs16957983	0.84[ASN][1000 genomes]
rs16957992	0.84[ASN][1000 genomes]
rs16957996	0.84[ASN][1000 genomes]
rs16957999	0.84[ASN][1000 genomes]
rs16958024	0.97[ASN][1000 genomes]
rs35184997	0.81[ASN][1000 genomes]
rs35951678	0.81[ASN][1000 genomes]
rs3844413	0.82[ASN][1000 genomes]
rs3844414	0.82[ASN][1000 genomes]
rs3852730	0.82[ASN][1000 genomes]
rs3852731	0.81[ASN][1000 genomes]
rs3910224	0.84[ASN][1000 genomes]
rs3910225	0.83[ASN][1000 genomes]
rs58720047	0.93[ASN][1000 genomes]
rs60209981	0.84[ASN][1000 genomes]
rs60407766	0.94[ASN][1000 genomes]
rs7187680	0.81[ASN][1000 genomes]
rs7194506	0.82[ASN][1000 genomes]
rs7196157	0.92[ASN][1000 genomes]
rs7205401	0.81[ASN][1000 genomes]
rs7205417	0.81[ASN][1000 genomes]
rs74028506	0.93[ASN][1000 genomes]
rs74028507	0.93[ASN][1000 genomes]
rs74028508	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74028509	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74028510	0.93[ASN][1000 genomes]
rs74030924	0.84[ASN][1000 genomes]
rs8043944	0.93[ASN][1000 genomes]
rs8048610	0.93[ASN][1000 genomes]
rs8049308	0.89[ASN][1000 genomes]
rs8053933	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs8057927	0.87[ASN][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	nsv532598	chr16:82034475-82738733	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1065896	chr16:82213517-82731994	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv833305	chr16:82563888-82722084	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	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
9	nsv907022	chr16:82680391-82718030	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
11	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
12	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
13	esv3435119	chr16:82691859-82692690	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82683000-82694200	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr16:82683000-82694800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr16:82683600-82694200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr16:82685800-82694400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr16:82686000-82695000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:82687400-82692600	Weak transcription	Esophagus	oesophagus
8	chr16:82687600-82692600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr16:82687600-82693200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr16:82687800-82692600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr16:82688000-82692800	Enhancers	HUVEC	blood vessel
12	chr16:82688200-82693800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:82688200-82696000	Weak transcription	Fetal Heart	heart
14	chr16:82688400-82694800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr16:82689000-82693400	Enhancers	Osteobl	bone
16	chr16:82689200-82693400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr16:82689200-82693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr16:82689600-82692800	Weak transcription	Lung	lung
19	chr16:82689600-82693400	Enhancers	HSMMtube	muscle
20	chr16:82689600-82693600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr16:82690000-82692600	Weak transcription	Fetal Muscle Leg	muscle
22	chr16:82690000-82693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:82690000-82693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr16:82690000-82693400	Weak transcription	Left Ventricle	heart
25	chr16:82690000-82693400	Weak transcription	Psoas Muscle	Psoas
26	chr16:82690000-82694000	Weak transcription	Right Atrium	heart
27	chr16:82690000-82694800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:82690000-82697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr16:82690000-82698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr16:82690200-82693400	Enhancers	HSMM	muscle
31	chr16:82690200-82700400	Weak transcription	Right Ventricle	heart
32	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
33	chr16:82690400-82693200	Weak transcription	GM12878-XiMat	blood
34	chr16:82690400-82693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr16:82690400-82693400	Weak transcription	Fetal Thymus	thymus
36	chr16:82691000-82693200	Weak transcription	NHLF	lung
37	chr16:82691000-82694400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr16:82691400-82693600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:82691600-82692800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr16:82691600-82693200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:82691600-82693400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr16:82691600-82694200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr16:82691800-82692600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:82691800-82692600	Weak transcription	NH-A	brain
45	chr16:82691800-82693400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:82691800-82693400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:82691800-82693600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr16:82692000-82692600	Weak transcription	NHEK	skin
49	chr16:82692000-82693200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr16:82692000-82693200	Weak transcription	HMEC	breast

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