Variant report

Variant	rs8043944
Chromosome Location	chr16:82694538-82694539
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11866558	0.81[ASN][1000 genomes]
rs11866677	0.81[ASN][1000 genomes]
rs11866729	0.81[ASN][1000 genomes]
rs11866737	0.81[ASN][1000 genomes]
rs16957983	0.81[ASN][1000 genomes]
rs16957992	0.81[ASN][1000 genomes]
rs16957996	0.81[ASN][1000 genomes]
rs16957999	0.81[ASN][1000 genomes]
rs16958024	0.91[ASN][1000 genomes]
rs3910224	0.81[ASN][1000 genomes]
rs3910225	0.80[ASN][1000 genomes]
rs58685808	0.93[ASN][1000 genomes]
rs58720047	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60209981	0.81[ASN][1000 genomes]
rs60407766	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7196157	0.86[ASN][1000 genomes]
rs73599199	0.81[EUR][1000 genomes]
rs74028506	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74028507	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74028508	0.93[ASN][1000 genomes]
rs74028509	0.93[ASN][1000 genomes]
rs74028510	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74030924	0.81[ASN][1000 genomes]
rs8048610	0.89[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8049308	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs8053933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8057927	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82683000-82694800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr16:82683200-82695200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr16:82686000-82695000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr16:82688200-82696000	Weak transcription	Fetal Heart	heart
5	chr16:82688400-82694800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:82690000-82694800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr16:82690000-82697800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr16:82690000-82698800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:82690200-82700400	Weak transcription	Right Ventricle	heart
10	chr16:82690200-82709000	Weak transcription	Aorta	Aorta
11	chr16:82693200-82694600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr16:82693200-82695200	Enhancers	Fetal Muscle Trunk	muscle
13	chr16:82693400-82694600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr16:82693400-82694800	Enhancers	Left Ventricle	heart
15	chr16:82693400-82695000	Flanking Active TSS	HSMMtube	muscle
16	chr16:82693400-82698600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:82693600-82694800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr16:82693600-82701600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:82693800-82694600	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr16:82694000-82694600	Active TSS	HSMM	muscle
21	chr16:82694200-82695200	Enhancers	Psoas Muscle	Psoas
22	chr16:82694200-82696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr16:82694200-82697000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr16:82694200-82728400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:82694400-82694600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr16:82694400-82694800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:82694400-82695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr16:82694400-82698200	Enhancers	Fetal Muscle Leg	muscle
29	chr16:82694400-82699800	Weak transcription	NHEK	skin
30	chr16:82694400-82700400	Weak transcription	HMEC	breast
31	chr16:82694400-82705200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:82694400-82709000	Weak transcription	NH-A	brain

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