Variant report

Variant	rs34204567
Chromosome Location	chr16:82691648-82691649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12716949	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12931356	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13330513	0.90[EUR][1000 genomes]
rs28419168	0.84[EUR][1000 genomes]
rs34599384	0.92[EUR][1000 genomes]
rs8050316	0.84[EUR][1000 genomes]
rs8054419	0.84[EUR][1000 genomes]
rs9921247	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9928814	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:57 , 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	chr16:82683200-82692200	Enhancers	Thymus	Thymus
4	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr16:82683400-82691800	Enhancers	Primary T cells from cord blood	blood
6	chr16:82683600-82694200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr16:82684000-82692400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr16:82685200-82691800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:82685800-82694400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr16:82686000-82695000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:82687400-82692600	Weak transcription	Esophagus	oesophagus
12	chr16:82687600-82692600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:82687600-82693200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:82687800-82692600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr16:82688000-82691800	Enhancers	NH-A	brain
16	chr16:82688000-82692000	Enhancers	HMEC	breast
17	chr16:82688000-82692000	Enhancers	NHDF-Ad	bronchial
18	chr16:82688000-82692800	Enhancers	HUVEC	blood vessel
19	chr16:82688200-82693800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:82688200-82696000	Weak transcription	Fetal Heart	heart
21	chr16:82688400-82694800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr16:82689000-82693400	Enhancers	Osteobl	bone
23	chr16:82689200-82693400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr16:82689200-82693400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr16:82689600-82692000	Enhancers	NHEK	skin
26	chr16:82689600-82692800	Weak transcription	Lung	lung
27	chr16:82689600-82693400	Enhancers	HSMMtube	muscle
28	chr16:82689600-82693600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:82690000-82691800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr16:82690000-82692600	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:82690000-82693400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:82690000-82693400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr16:82690000-82693400	Weak transcription	Left Ventricle	heart
34	chr16:82690000-82693400	Weak transcription	Psoas Muscle	Psoas
35	chr16:82690000-82694000	Weak transcription	Right Atrium	heart
36	chr16:82690000-82694800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:82690000-82697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:82690000-82698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr16:82690200-82693400	Enhancers	HSMM	muscle
40	chr16:82690200-82700400	Weak transcription	Right Ventricle	heart
41	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
42	chr16:82690400-82691800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr16:82690400-82693200	Weak transcription	GM12878-XiMat	blood
44	chr16:82690400-82693400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr16:82690400-82693400	Weak transcription	Fetal Thymus	thymus
46	chr16:82690800-82691800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr16:82690800-82692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:82691000-82693200	Weak transcription	NHLF	lung
49	chr16:82691000-82694400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr16:82691400-82691800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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