Variant report

Variant	rs8060301
Chromosome Location	chr16:82661744-82661745
allele	A/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:26)

rs_ID	r²[population]
rs10514548	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10871434	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12051213	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12051272	0.95[ASN][1000 genomes]
rs12443878	1.00[CEU][hapmap]
rs12444338	0.91[ASN][1000 genomes]
rs12596316	0.81[ASN][1000 genomes]
rs12598679	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1541928	1.00[CEU][hapmap]
rs16957889	0.93[ASN][1000 genomes]
rs2116971	0.80[EUR][1000 genomes]
rs2163869	0.84[AMR][1000 genomes]
rs2239857	0.95[ASN][1000 genomes]
rs28597883	0.87[ASN][1000 genomes]
rs3865188	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4597315	0.91[ASN][1000 genomes]
rs4782721	1.00[CEU][hapmap]
rs4783241	0.90[ASN][1000 genomes]
rs4783244	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7202931	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7204787	0.83[AMR][1000 genomes]
rs7205148	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs736718	1.00[CEU][hapmap]
rs8051657	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8062260	0.93[ASN][1000 genomes]
rs9925671	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1062787	chr16:82601618-82676019	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv542998	chr16:82601618-82676019	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82659800-82662200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr16:82660200-82661800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr16:82660200-82661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr16:82660200-82661800	Active TSS	Right Atrium	heart
5	chr16:82660200-82661800	Active TSS	Right Ventricle	heart
6	chr16:82660200-82661800	Active TSS	NHDF-Ad	bronchial
7	chr16:82660200-82662000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr16:82660200-82662000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr16:82660200-82662000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
10	chr16:82660200-82662000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
11	chr16:82660200-82662000	Active TSS	Psoas Muscle	Psoas
12	chr16:82660200-82662200	Active TSS	Brain Angular Gyrus	brain
13	chr16:82660200-82662200	Active TSS	HSMM	muscle
14	chr16:82660200-82662400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr16:82660200-82662400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
16	chr16:82660200-82662600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:82660200-82663800	Active TSS	Aorta	Aorta
18	chr16:82660400-82661800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:82660400-82661800	Bivalent Enhancer	Fetal Lung	lung
20	chr16:82660400-82661800	Bivalent Enhancer	Spleen	Spleen
21	chr16:82660400-82661800	Active TSS	NH-A	brain
22	chr16:82660400-82662000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr16:82660400-82662000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr16:82660400-82662000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:82660400-82662000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr16:82660400-82662000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:82660400-82662000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
28	chr16:82660400-82662000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr16:82660400-82662000	Bivalent/Poised TSS	Placenta	Placenta
30	chr16:82660400-82662000	Active TSS	Left Ventricle	heart
31	chr16:82660400-82662000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
32	chr16:82660400-82662000	Active TSS	HMEC	breast
33	chr16:82660400-82662000	Active TSS	HSMMtube	muscle
34	chr16:82660400-82662200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:82660400-82662200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr16:82660600-82661800	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:82660600-82661800	Active TSS	Fetal Heart	heart
38	chr16:82660600-82661800	Enhancers	Gastric	stomach
39	chr16:82660600-82661800	Bivalent/Poised TSS	Thymus	Thymus
40	chr16:82660600-82661800	Active TSS	Osteobl	bone
41	chr16:82660600-82662000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr16:82660600-82662000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr16:82660600-82662000	Enhancers	Pancreas	Pancrea
44	chr16:82660600-82662000	Active TSS	NHEK	skin
45	chr16:82660800-82661800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:82660800-82662200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr16:82661000-82662000	Bivalent Enhancer	Fetal Brain Male	brain
48	chr16:82661200-82662600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr16:82661400-82661800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr16:82661400-82661800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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