Variant report

Variant	rs8063675
Chromosome Location	chr16:70283579-70283580
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70283499-70283622	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr16:70282927-70283579	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70282873-70283655	GM12878	blood:	n/a	n/a
4	HEY1	chr16:70283265-70283621	HepG2	liver:	n/a	n/a
5	POLR2A	chr16:70283307-70283666	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000261556	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55683684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55693362	0.94[AFR][1000 genomes]
rs57326693	0.83[AFR][1000 genomes]
rs58575154	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58592676	0.96[AFR][1000 genomes]
rs60165217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61466321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74026021	0.84[AFR][1000 genomes]
rs74026023	0.86[AFR][1000 genomes]
rs74026029	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv428328	chr16:69986563-70313222	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	esv1802826	chr16:69988100-70287669	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	esv1820100	chr16:70048808-70311044	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv33745	chr16:70116599-70319873	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	esv1801017	chr16:70141558-70303736	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv20058	chr16:70145134-70285081	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv833271	chr16:70185694-70353334	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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	51 gene(s)	inside rSNPs	diseases
11	esv1796562	chr16:70206819-70289517	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	esv1825452	chr16:70206819-70289517	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv1804795	chr16:70206819-70294463	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	esv14657	chr16:70234205-70284981	Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv1811334	chr16:70235145-70283736	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv1811861	chr16:70236114-70283736	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
17	esv1832431	chr16:70236677-70283736	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	esv1851535	chr16:70236677-70283736	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv978165	chr16:70244012-70286115	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	esv1842993	chr16:70251428-70283736	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1061286	chr16:70253809-70331407	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
22	esv1826506	chr16:70253919-70287669	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
23	nsv906868	chr16:70270429-70292810	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
24	esv3338628	chr16:70283151-70287449	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70233200-70283600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
6	chr16:70238800-70283600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr16:70241000-70283600	Weak transcription	Brain Germinal Matrix	brain
8	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
9	chr16:70249600-70284200	Weak transcription	Brain Substantia Nigra	brain
10	chr16:70250800-70283600	Weak transcription	Right Ventricle	heart
11	chr16:70251000-70284200	Weak transcription	Placenta	Placenta
12	chr16:70252600-70284000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr16:70252600-70284200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr16:70254600-70284200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr16:70257400-70283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr16:70259200-70284200	Weak transcription	Gastric	stomach
17	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:70259600-70284200	Weak transcription	Pancreas	Pancrea
19	chr16:70260800-70284200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:70261800-70284200	Weak transcription	Thymus	Thymus
21	chr16:70261800-70284800	Weak transcription	Lung	lung
22	chr16:70265400-70284800	Weak transcription	HSMMtube	muscle
23	chr16:70267000-70284000	Weak transcription	Fetal Kidney	kidney
24	chr16:70267800-70284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr16:70268000-70284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:70268000-70284200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr16:70268200-70283600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr16:70268200-70283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr16:70269400-70284200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:70272400-70284000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:70274800-70283600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:70275600-70284800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr16:70276200-70284200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr16:70280400-70284800	Weak transcription	Psoas Muscle	Psoas
35	chr16:70280800-70284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr16:70281600-70283800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr16:70281600-70284800	Enhancers	Primary T cells fromperipheralblood	blood
38	chr16:70282000-70284200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr16:70282400-70284000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:70282400-70284600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr16:70282400-70284800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr16:70282600-70284800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:70282800-70283600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr16:70283000-70284200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr16:70283000-70284200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:70283000-70284200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr16:70283000-70284200	Enhancers	Adipose Nuclei	Adipose
48	chr16:70283000-70284400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr16:70283000-70284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:70283000-70284600	Enhancers	Primary monocytes fromperipheralblood	blood

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