Variant report

Variant	rs8052389
Chromosome Location	chr16:74596183-74596184
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10468356	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12445991	0.86[ASN][1000 genomes]
rs12448026	0.85[ASN][1000 genomes]
rs2550824	0.82[ASN][1000 genomes]
rs3923201	0.89[ASN][1000 genomes]
rs4600490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888253	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4888255	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55960814	0.88[ASN][1000 genomes]
rs62054177	0.84[ASN][1000 genomes]
rs6564141	0.88[ASN][1000 genomes]
rs6564142	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs67414268	0.81[ASN][1000 genomes]
rs71392603	0.91[ASN][1000 genomes]
rs7185026	0.87[ASN][1000 genomes]
rs7201105	0.83[ASN][1000 genomes]
rs7203452	0.94[ASN][1000 genomes]
rs7205813	0.89[ASN][1000 genomes]
rs7359390	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8046158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8048239	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs8049138	0.89[ASN][1000 genomes]
rs8050668	0.92[ASN][1000 genomes]
rs8050850	0.92[ASN][1000 genomes]
rs8051990	0.89[ASN][1000 genomes]
rs8053369	0.89[ASN][1000 genomes]
rs8055380	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8058256	0.80[ASN][1000 genomes]
rs8058692	0.91[ASN][1000 genomes]
rs9888950	0.88[ASN][1000 genomes]
rs9888968	0.84[ASN][1000 genomes]
rs9888976	0.83[ASN][1000 genomes]
rs9923644	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9929933	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9930003	0.92[ASN][1000 genomes]
rs9938859	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948443	chr16:73994997-74627711	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
3	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv1060629	chr16:74483574-74660669	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv1062517	chr16:74483574-74710623	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv833279	chr16:74490746-74663073	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
8	nsv906905	chr16:74527618-74679244	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74537600-74604800	Weak transcription	Thymus	Thymus
2	chr16:74563200-74598000	Weak transcription	Fetal Intestine Small	intestine
3	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
4	chr16:74565000-74597000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:74565600-74597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr16:74578600-74597400	Weak transcription	Pancreas	Pancrea
7	chr16:74579200-74597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:74583000-74617200	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:74585000-74597400	Weak transcription	Esophagus	oesophagus
10	chr16:74585400-74601000	Weak transcription	Fetal Thymus	thymus
11	chr16:74587600-74612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr16:74588200-74596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
14	chr16:74588400-74597200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:74589800-74626800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr16:74590000-74596800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:74590000-74607000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr16:74590200-74597000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr16:74590200-74597800	Weak transcription	NHLF	lung
20	chr16:74590200-74614600	Weak transcription	Adipose Nuclei	Adipose
21	chr16:74590400-74607600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:74590600-74597400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr16:74590600-74601200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:74591000-74597000	Weak transcription	Fetal Kidney	kidney
25	chr16:74591000-74597400	Weak transcription	HSMM	muscle
26	chr16:74591000-74602600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:74591000-74602600	Weak transcription	NHEK	skin
28	chr16:74591000-74624000	Weak transcription	Aorta	Aorta
29	chr16:74591800-74597800	Weak transcription	Gastric	stomach
30	chr16:74591800-74602800	Weak transcription	Stomach Mucosa	stomach
31	chr16:74591800-74613600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr16:74592200-74598000	Weak transcription	HepG2	liver
33	chr16:74593000-74602800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr16:74593200-74597800	Weak transcription	A549	lung
35	chr16:74593200-74608600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr16:74593600-74596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr16:74593800-74607200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr16:74594000-74596200	Enhancers	Primary T cells from cord blood	blood
39	chr16:74594000-74596800	Enhancers	Ovary	ovary
40	chr16:74594200-74596600	Weak transcription	Right Atrium	heart
41	chr16:74594200-74598000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr16:74594800-74596200	Enhancers	Brain Angular Gyrus	brain
43	chr16:74594800-74596400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr16:74594800-74596600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr16:74595000-74596200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr16:74595000-74596400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr16:74595000-74596800	Enhancers	Fetal Heart	heart
48	chr16:74595000-74597000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr16:74595000-74598000	Enhancers	Brain Substantia Nigra	brain
50	chr16:74595000-74598200	Enhancers	Skeletal Muscle Female	skeletal muscle

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