Variant report

Variant	rs60853300
Chromosome Location	chr16:70283297-70283298
allele	-/C
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	chr16:70282927-70283579	GM12878	blood:	n/a	n/a
2	POLR2A	chr16:70282873-70283655	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:70282928-70283341	GM12891	blood:	n/a	n/a
4	HEY1	chr16:70283265-70283621	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70278247..70283453-chr16:70284015..70287841,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261556	TF binding region
ENSG00000223496	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 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	esv1802130	chr16:70135585-70283536	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	esv1815004	chr16:70236877-70283536	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	esv1829819	chr16:70236877-70283536	Enhancers Weak transcription Strong transcription 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
22	esv1845377	chr16:70236877-70283536	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers 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
23	esv1851144	chr16:70236877-70283536	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	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
25	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
26	esv1810179	chr16:70251628-70283536	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	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
28	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
29	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
30	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70232400-70284800	Weak transcription	Spleen	Spleen
2	chr16:70233200-70283400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr16:70233200-70283600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr16:70235600-70284200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:70237200-70284800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:70238600-70284800	Weak transcription	Esophagus	oesophagus
7	chr16:70238800-70283400	Weak transcription	NHEK	skin
8	chr16:70238800-70283600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr16:70239600-70283400	Weak transcription	Brain Angular Gyrus	brain
10	chr16:70241000-70283600	Weak transcription	Brain Germinal Matrix	brain
11	chr16:70242200-70283400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr16:70242800-70283400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:70243200-70283400	Weak transcription	NH-A	brain
14	chr16:70245000-70283400	Weak transcription	Brain Anterior Caudate	brain
15	chr16:70245800-70283400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:70246400-70283400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:70246400-70283400	Weak transcription	Colon Smooth Muscle	Colon
18	chr16:70248000-70283400	Weak transcription	HMEC	breast
19	chr16:70249000-70284800	Weak transcription	Brain Hippocampus Middle	brain
20	chr16:70249600-70284200	Weak transcription	Brain Substantia Nigra	brain
21	chr16:70250800-70283600	Weak transcription	Right Ventricle	heart
22	chr16:70251000-70284200	Weak transcription	Placenta	Placenta
23	chr16:70252600-70284000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr16:70252600-70284200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:70253400-70283400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr16:70254600-70284200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr16:70257400-70283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:70259200-70284200	Weak transcription	Gastric	stomach
29	chr16:70259400-70284600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:70259600-70284200	Weak transcription	Pancreas	Pancrea
31	chr16:70260800-70284200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr16:70261400-70283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr16:70261400-70283400	Weak transcription	Left Ventricle	heart
34	chr16:70261800-70283400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:70261800-70283400	Weak transcription	Fetal Brain Female	brain
36	chr16:70261800-70283400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr16:70261800-70284200	Weak transcription	Thymus	Thymus
38	chr16:70261800-70284800	Weak transcription	Lung	lung
39	chr16:70263000-70283400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:70265400-70284800	Weak transcription	HSMMtube	muscle
41	chr16:70267000-70284000	Weak transcription	Fetal Kidney	kidney
42	chr16:70267800-70284200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:70268000-70283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr16:70268000-70283400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:70268000-70283400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr16:70268000-70283400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:70268000-70283400	Weak transcription	Fetal Lung	lung
48	chr16:70268000-70283400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr16:70268000-70283400	Weak transcription	A549	lung
50	chr16:70268000-70284200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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