Variant report

Variant	rs8058139
Chromosome Location	chr16:75658260-75658261
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75658212-75658959	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:75658173-75661283	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75655020..75658877-chr16:75680481..75684905,8	MCF-7	breast:
2	chr16:75653410..75664044-chr16:75674901..75683254,27	MCF-7	breast:
3	chr16:75656309..75658389-chr16:75681209..75683148,3	K562	blood:
4	chr16:75465910..75469192-chr16:75654368..75658890,6	K562	blood:
5	chr16:75654016..75659144-chr16:75660095..75666421,8	K562	blood:
6	chr16:75588035..75589877-chr16:75656645..75658476,2	K562	blood:
7	chr16:75599693..75601531-chr16:75657290..75658872,2	K562	blood:
8	chr16:75655386..75658646-chr16:75660355..75663332,4	MCF-7	breast:
9	chr16:75657575..75660542-chr16:75680530..75682857,2	K562	blood:
10	chr16:75467207..75468752-chr16:75656825..75658775,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAT1	TF binding region
ENSG00000065427	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000153774	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000166848	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs55907643	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56029288	0.85[AFR][1000 genomes]
rs56146953	1.00[AMR][1000 genomes]
rs56235797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58718680	1.00[AMR][1000 genomes]
rs59487462	0.88[AFR][1000 genomes]
rs59619831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59634477	1.00[AMR][1000 genomes]
rs60545964	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60713528	0.95[AFR][1000 genomes]
rs60768865	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61675014	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7191923	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192136	1.00[AMR][1000 genomes]
rs73613298	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615046	0.83[AFR][1000 genomes]
rs73615053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615054	0.83[AFR][1000 genomes]
rs73615069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615080	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615207	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73615239	1.00[AMR][1000 genomes]
rs73615244	1.00[AMR][1000 genomes]
rs73615275	1.00[AMR][1000 genomes]
rs8047796	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75656800-75667800	Weak transcription	Fetal Heart	heart
2	chr16:75657200-75659600	Weak transcription	Gastric	stomach
3	chr16:75657200-75659600	Weak transcription	Spleen	Spleen
4	chr16:75657200-75659800	Weak transcription	Lung	lung
5	chr16:75657200-75660000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:75657200-75660200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:75657400-75661600	Weak transcription	Small Intestine	intestine
8	chr16:75657600-75658400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:75657600-75658400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr16:75657600-75658400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:75657600-75658400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:75657600-75658400	Weak transcription	HepG2	liver
13	chr16:75657600-75659000	Weak transcription	Brain Substantia Nigra	brain
14	chr16:75657600-75659000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr16:75657600-75659200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:75657600-75659400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr16:75657600-75659400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:75657600-75659400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr16:75657600-75659400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:75657600-75659400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr16:75657600-75659400	Weak transcription	Fetal Lung	lung
22	chr16:75657600-75659400	Weak transcription	Ovary	ovary
23	chr16:75657600-75659400	Enhancers	Hela-S3	cervix
24	chr16:75657600-75659600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:75657600-75659600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:75657600-75659600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:75657600-75659600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr16:75657600-75659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr16:75657600-75659600	Weak transcription	Brain Angular Gyrus	brain
30	chr16:75657600-75659600	Weak transcription	Brain Anterior Caudate	brain
31	chr16:75657600-75659600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr16:75657600-75659600	Weak transcription	Left Ventricle	heart
33	chr16:75657600-75659600	Weak transcription	Right Ventricle	heart
34	chr16:75657600-75659600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr16:75657600-75659800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:75657600-75659800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:75657600-75659800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:75657600-75659800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:75657600-75659800	Weak transcription	Psoas Muscle	Psoas
40	chr16:75657600-75659800	Weak transcription	Stomach Mucosa	stomach
41	chr16:75657600-75659800	Weak transcription	HSMM	muscle
42	chr16:75657600-75659800	Weak transcription	HSMMtube	muscle
43	chr16:75657600-75660000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr16:75657600-75660200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr16:75657600-75660200	Weak transcription	Aorta	Aorta
46	chr16:75657600-75660200	Weak transcription	Pancreas	Pancrea
47	chr16:75657600-75660200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr16:75657600-75661800	Weak transcription	Colonic Mucosa	Colon
49	chr16:75657600-75666200	Weak transcription	Fetal Brain Male	brain
50	chr16:75657600-75668000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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