Variant report

Variant	rs558623944
Chromosome Location	chr16:30547649-30547650
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr16:30545958-30547734	K562	blood:	n/a	n/a
2	POLR2A	chr16:30545070-30548080	GM12878	blood:	n/a	n/a
3	MXI1	chr16:30545694-30547709	GM12878	blood:	n/a	chr16:30547380-30547389
4	PML	chr16:30545490-30547702	GM12878	blood:	n/a	n/a
5	MTA3	chr16:30545047-30547791	GM12878	blood:	n/a	n/a
6	POLR2A	chr16:30545609-30547688	GM12878	blood:	n/a	n/a
7	MXI1	chr16:30546916-30547732	IMR90	lung:	n/a	chr16:30547380-30547389
8	POLR2A	chr16:30545363-30547809	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr16:30546791-30547675	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:30547630-30547664	HUVEC	blood vessel:	n/a	n/a
11	RAD21	chr16:30544624-30547653	SK-N-SH	brain:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262 chr16:30547185-30547199
12	USF1	chr16:30547027-30547683	K562	blood:	n/a	n/a
13	CTCF	chr16:30547540-30547690	NHLF	lung:	n/a	n/a
14	POLR2A	chr16:30545065-30548041	GM12892	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
2	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
3	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
4	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
5	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
6	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
7	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
8	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
9	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
10	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
11	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
12	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
13	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
14	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
15	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
16	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
17	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
18	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
19	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
20	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
21	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
22	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261459	TF binding region
ZNF747	TF binding region
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000169592	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
6	nsv977958	chr16:30547064-30550984	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr16:30546400-30547800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr16:30546400-30547800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr16:30546600-30547800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr16:30546600-30547800	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr16:30546600-30547800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:30546800-30547800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr16:30547000-30547800	Flanking Active TSS	Dnd41	blood
13	chr16:30547000-30547800	Flanking Active TSS	HepG2	liver
14	chr16:30547200-30547800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr16:30547200-30547800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr16:30547200-30548000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr16:30547200-30548000	Flanking Active TSS	GM12878-XiMat	blood
18	chr16:30547400-30547800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30547400-30547800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr16:30547400-30547800	Enhancers	Liver	Liver
21	chr16:30547400-30547800	Flanking Active TSS	Fetal Brain Female	brain
22	chr16:30547400-30547800	Enhancers	Fetal Heart	heart
23	chr16:30547400-30547800	Enhancers	Fetal Lung	lung
24	chr16:30547400-30547800	Enhancers	HSMMtube	muscle
25	chr16:30547400-30548000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr16:30547400-30548200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr16:30547400-30548200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:30547400-30548200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr16:30547400-30550600	Weak transcription	Right Ventricle	heart
30	chr16:30547400-30552400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:30547400-30552600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr16:30547400-30552600	Weak transcription	NH-A	brain
33	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
35	chr16:30547600-30547800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr16:30547600-30547800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr16:30547600-30547800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:30547600-30547800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr16:30547600-30547800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr16:30547600-30547800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:30547600-30547800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr16:30547600-30547800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr16:30547600-30547800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:30547600-30547800	Enhancers	Duodenum Mucosa	Duodenum
45	chr16:30547600-30547800	Enhancers	Fetal Brain Male	brain
46	chr16:30547600-30547800	Enhancers	Fetal Kidney	kidney
47	chr16:30547600-30547800	Active TSS	Hela-S3	cervix
48	chr16:30547600-30547800	Active TSS	K562	blood
49	chr16:30547600-30548000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr16:30547600-30548000	Enhancers	Primary B cells from cord blood	blood

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