Variant report

Variant	rs564354998
Chromosome Location	chr16:74483898-74483899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:74483290-74484037	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:74483546-74484000	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr16:74483881-74484125	GM12891	blood:	n/a	n/a
4	POLR2A	chr16:74483430-74484182	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr16:74483840-74483990	HPF	lung:	n/a	n/a
6	NR3C1	chr16:74482895-74483992	A549	lung:	n/a	n/a
7	POLR2A	chr16:74483048-74484109	GM12878	blood:	n/a	n/a
8	RCOR1	chr16:74482842-74484149	IMR90	lung:	n/a	n/a
9	FOSL1	chr16:74482868-74483925	HCT-116	colon:	n/a	n/a
10	NR3C1	chr16:74483017-74483949	A549	lung:	n/a	n/a
11	JUND	chr16:74483004-74484001	HCT-116	colon:	n/a	n/a
12	MAZ	chr16:74482873-74484455	IMR90	lung:	n/a	n/a
13	POLR2A	chr16:74483878-74484126	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74483167..74486389-chr16:74491599..74494939,3	MCF-7	breast:
2	chr16:74482713..74485167-chr16:74639325..74641867,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260539	TF binding region
ENSG00000090863	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv1066212	chr16:74068470-74527133	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv542954	chr16:74068470-74527133	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1065964	chr16:74088091-74575604	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
5	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
6	esv2758431	chr16:74334780-74587185	Strong transcription Weak transcription Enhancers Active TSS Flanking 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 target site	20 gene(s)	inside rSNPs	diseases
7	esv2758656	chr16:74334780-74587185	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
8	nsv833277	chr16:74334787-74498133	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv2762054	chr16:74337036-74507056	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1817585	chr16:74355081-74486997	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
11	esv1829589	chr16:74366364-74496761	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv428806	chr16:74394226-74580125	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv833278	chr16:74415944-74584123	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	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
15	nsv960357	chr16:74480805-74507776	Strong transcription Enhancers Weak transcription 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
16	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
17	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74468200-74498400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:74470600-74484800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:74471000-74485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr16:74472600-74485000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:74473000-74484000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:74473000-74485400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr16:74473000-74486800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr16:74473000-74487000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:74473200-74485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:74473800-74484000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr16:74474000-74485800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr16:74475400-74486800	Weak transcription	Fetal Kidney	kidney
13	chr16:74475600-74485000	Weak transcription	Aorta	Aorta
14	chr16:74479200-74484400	Enhancers	Adipose Nuclei	Adipose
15	chr16:74479800-74489400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:74480000-74486200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:74480000-74488200	Strong transcription	Primary T cells from cord blood	blood
18	chr16:74480400-74484400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr16:74480400-74501000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr16:74480400-74501400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr16:74480400-74502600	Strong transcription	Thymus	Thymus
22	chr16:74480400-74530800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:74480400-74530800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:74480400-74531800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr16:74480600-74485400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr16:74480600-74492800	Strong transcription	Brain Germinal Matrix	brain
27	chr16:74480600-74500200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:74480600-74503000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:74480600-74530600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr16:74480800-74484200	Enhancers	HUVEC	blood vessel
31	chr16:74480800-74484400	Enhancers	Right Atrium	heart
32	chr16:74480800-74486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr16:74480800-74500400	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr16:74480800-74530600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr16:74480800-74530800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:74481000-74485000	Weak transcription	Brain Angular Gyrus	brain
37	chr16:74481200-74520000	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:74481200-74520200	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:74481400-74487800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:74481600-74484200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr16:74481600-74484200	Enhancers	Colonic Mucosa	Colon
42	chr16:74481600-74484400	Genic enhancers	Placenta	Placenta
43	chr16:74481600-74485600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:74481600-74487000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:74481800-74484200	Enhancers	Duodenum Mucosa	Duodenum
46	chr16:74481800-74484200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr16:74481800-74484200	Enhancers	NHEK	skin
48	chr16:74481800-74484400	Genic enhancers	Fetal Intestine Large	intestine
49	chr16:74481800-74484400	Genic enhancers	Fetal Intestine Small	intestine
50	chr16:74481800-74484800	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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