Variant report

Variant	rs72798696
Chromosome Location	chr16:75030783-75030784
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZEB1	chr16:75030611-75031420	HepG2	liver:	n/a	n/a
2	MYBL2	chr16:75030782-75031381	HepG2	liver:	n/a	n/a
3	NFIC	chr16:75030711-75031253	HepG2	liver:	n/a	n/a
4	FOXA2	chr16:75030710-75031223	HepG2	liver:	n/a	n/a
5	MBD4	chr16:75030697-75031228	HepG2	liver:	n/a	n/a
6	MAFK	chr16:75030731-75030990	HepG2	liver:	n/a	n/a
7	MAFF	chr16:75030752-75030978	HepG2	liver:	n/a	n/a
8	MYBL2	chr16:75030625-75031374	HepG2	liver:	n/a	n/a
9	FOXA1	chr16:75030729-75031288	HepG2	liver:	n/a	n/a
10	FOXA1	chr16:75030779-75031305	HepG2	liver:	n/a	n/a
11	MAFK	chr16:75030739-75031202	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75029868..75037658-chr16:75126728..75134640,18	MCF-7	breast:
2	chr16:75030200..75036948-chr16:75138293..75150916,36	MCF-7	breast:
3	chr16:75016425..75019330-chr16:75029717..75032021,3	MCF-7	breast:
4	chr16:75017075..75020366-chr16:75030262..75034812,8	MCF-7	breast:
5	chr16:75029360..75030885-chr16:75032638..75034978,2	K562	blood:
6	chr16:75029906..75041710-chr16:75135762..75151574,68	MCF-7	breast:

No data

Variant related genes	Relation type
ZNRF1	TF binding region
ENSG00000186187	Chromatin interaction
ENSG00000166816	Chromatin interaction
ENSG00000103091	Chromatin interaction
ENSG00000247033	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72798662	1.00[AMR][1000 genomes]
rs72798665	1.00[AMR][1000 genomes]
rs72800338	1.00[AMR][1000 genomes]
rs72800380	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	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
7	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
10	nsv906908	chr16:75025548-75123994	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75019400-75032400	Weak transcription	Right Atrium	heart
2	chr16:75019400-75033000	Weak transcription	Gastric	stomach
3	chr16:75020000-75032000	Weak transcription	A549	lung
4	chr16:75026000-75030800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:75026000-75031000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr16:75026000-75032400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:75026200-75030800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75026200-75031000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr16:75026200-75031000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr16:75026400-75032000	Weak transcription	Fetal Thymus	thymus
11	chr16:75026400-75032000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:75026400-75032400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr16:75026600-75031000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr16:75026600-75031200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:75026600-75032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:75026600-75032000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:75026600-75032000	Weak transcription	Brain Anterior Caudate	brain
18	chr16:75026600-75032000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:75026600-75032000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr16:75026600-75032000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr16:75026600-75032000	Weak transcription	Fetal Kidney	kidney
22	chr16:75026600-75032000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:75026600-75032200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr16:75026600-75032200	Weak transcription	Brain Angular Gyrus	brain
25	chr16:75026600-75032200	Weak transcription	Colonic Mucosa	Colon
26	chr16:75026600-75032200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr16:75026600-75032400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr16:75026800-75032200	Weak transcription	Brain Hippocampus Middle	brain
29	chr16:75027000-75030800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr16:75027000-75030800	Enhancers	HepG2	liver
31	chr16:75027000-75031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:75027000-75032000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr16:75027000-75032200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr16:75027000-75032200	Weak transcription	Fetal Heart	heart
35	chr16:75027800-75030800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr16:75027800-75032000	Weak transcription	Fetal Intestine Large	intestine
37	chr16:75027800-75032000	Weak transcription	Fetal Lung	lung
38	chr16:75027800-75032000	Weak transcription	K562	blood
39	chr16:75027800-75032400	Weak transcription	Pancreas	Pancrea
40	chr16:75028000-75030800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr16:75028000-75032000	Weak transcription	Fetal Intestine Small	intestine
42	chr16:75028000-75032400	Weak transcription	Ovary	ovary
43	chr16:75028200-75030800	Weak transcription	Stomach Mucosa	stomach
44	chr16:75028200-75032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:75030000-75032000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:75030400-75032000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr16:75030600-75032000	Weak transcription	Adipose Nuclei	Adipose
48	chr16:75030600-75032200	Enhancers	Liver	Liver

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