Variant report

Variant	rs28563803
Chromosome Location	chr16:30547593-30547594
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr16:30546016-30547595	GM12878	blood:	n/a	n/a
2	MAX	chr16:30545459-30547593	HepG2	liver:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
3	PML	chr16:30547000-30547633	K562	blood:	n/a	n/a
4	POLR2A	chr16:30545577-30547598	K562	blood:	n/a	n/a
5	HCFC1	chr16:30544857-30547593	Hela-S3	cervix:	n/a	n/a
6	MYBL2	chr16:30545694-30547595	HepG2	liver:	n/a	n/a
7	STAT5A	chr16:30545975-30547619	GM12878	blood:	n/a	chr16:30547101-30547113
8	NR2F2	chr16:30545958-30547734	K562	blood:	n/a	n/a
9	POLR2A	chr16:30545234-30547618	GM12891	blood:	n/a	n/a
10	POLR2A	chr16:30545070-30548080	GM12878	blood:	n/a	n/a
11	TAF1	chr16:30547049-30547606	GM12891	blood:	n/a	n/a
12	MXI1	chr16:30545441-30547622	SK-N-SH	brain:	n/a	chr16:30547380-30547389
13	MXI1	chr16:30545694-30547709	GM12878	blood:	n/a	chr16:30547380-30547389
14	PML	chr16:30545490-30547702	GM12878	blood:	n/a	n/a
15	POLR2A	chr16:30545207-30547624	GM12891	blood:	n/a	n/a
16	MTA3	chr16:30545047-30547791	GM12878	blood:	n/a	n/a
17	POLR2A	chr16:30545609-30547688	GM12878	blood:	n/a	n/a
18	MXI1	chr16:30546916-30547732	IMR90	lung:	n/a	chr16:30547380-30547389
19	POLR2A	chr16:30545363-30547809	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:30545450-30547615	HL-60	blood:	n/a	n/a
21	MAX	chr16:30545443-30547628	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
22	ATF2	chr16:30546791-30547675	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr16:30545309-30547628	GM12892	blood:	n/a	n/a
24	TAF1	chr16:30545574-30547594	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr16:30545089-30547633	GM12892	blood:	n/a	n/a
26	RAD21	chr16:30544624-30547653	SK-N-SH	brain:	n/a	chr16:30546105-30546117 chr16:30546103-30546110 chr16:30546248-30546262 chr16:30547185-30547199
27	USF1	chr16:30547027-30547683	K562	blood:	n/a	n/a
28	TBP	chr16:30546099-30547617	K562	blood:	n/a	n/a
29	USF1	chr16:30547091-30547634	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr16:30547540-30547690	NHLF	lung:	n/a	n/a
31	CTCF	chr16:30546780-30547647	SK-N-SH	brain:	n/a	n/a
32	MYC	chr16:30545848-30547644	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
33	POLR2A	chr16:30545065-30548041	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:30545256-30547646	GM12878	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
2	chr16:30460806..30461674-chr16:30546744..30547629,4	MCF-7	breast:
3	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
4	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
5	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
6	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
7	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
8	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
9	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
10	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
11	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
12	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
13	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
14	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
15	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
16	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
17	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
18	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
19	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
20	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
21	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
22	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
23	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF747	TF binding region
ENSG00000261459	TF binding region
ENSG00000149929	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000169592	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000260167	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
4	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr16:30545400-30547600	Active TSS	Esophagus	oesophagus
13	chr16:30545800-30547600	Flanking Active TSS	K562	blood
14	chr16:30546400-30547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:30546400-30547600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:30546400-30547600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr16:30546400-30547600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr16:30546400-30547600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr16:30546400-30547600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:30546400-30547600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr16:30546400-30547600	Flanking Active TSS	Fetal Thymus	thymus
22	chr16:30546400-30547600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr16:30546400-30547600	Flanking Active TSS	Osteobl	bone
24	chr16:30546400-30547800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr16:30546400-30547800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr16:30546600-30547600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr16:30546600-30547600	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr16:30546600-30547600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr16:30546600-30547600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr16:30546600-30547600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr16:30546600-30547600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30546600-30547600	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr16:30546600-30547600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr16:30546600-30547600	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr16:30546600-30547600	Flanking Active TSS	Fetal Intestine Small	intestine
36	chr16:30546600-30547600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr16:30546600-30547600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr16:30546600-30547600	Flanking Active TSS	HMEC	breast
39	chr16:30546600-30547600	Flanking Active TSS	NHEK	skin
40	chr16:30546600-30547800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr16:30546600-30547800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr16:30546600-30547800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr16:30546800-30547600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr16:30546800-30547600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr16:30546800-30547600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr16:30546800-30547600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:30546800-30547600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr16:30546800-30547600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:30546800-30547600	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr16:30546800-30547600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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