Variant report

Variant	rs536260584
Chromosome Location	chr16:30546908-30546909
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30545378-30547485	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr16:30545526-30547407	GM19099	blood:	n/a	n/a
3	RAD21	chr16:30546872-30547445	H1-hESC	embryonic stem cell:	n/a	chr16:30547185-30547199
4	POLR2A	chr16:30546202-30547434	K562	blood:	n/a	n/a
5	MXI1	chr16:30545989-30547304	H1-hESC	embryonic stem cell:	n/a	n/a
6	PML	chr16:30546167-30546920	K562	blood:	n/a	n/a
7	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
8	FOXM1	chr16:30546016-30547595	GM12878	blood:	n/a	n/a
9	POLR2A	chr16:30545516-30547300	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr16:30545377-30547476	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr16:30545731-30547295	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:30545540-30547380	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr16:30545663-30547523	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
14	POLR2A	chr16:30545715-30547313	MCF-7	breast:	n/a	n/a
15	TAF1	chr16:30545324-30547329	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr16:30545623-30547398	H1-neurons	neurons:	n/a	n/a
17	YY1	chr16:30546682-30547558	GM12878	blood:	n/a	chr16:30547075-30547083
18	RAD21	chr16:30546797-30547367	H1-hESC	embryonic stem cell:	n/a	chr16:30547185-30547199
19	MYC	chr16:30546196-30547552	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
20	REST	chr16:30545867-30546908	A549	lung:	n/a	n/a
21	POLR2A	chr16:30545082-30547574	K562	blood:	n/a	n/a
22	ZMIZ1	chr16:30546846-30547410	K562	blood:	n/a	n/a
23	MAX	chr16:30545502-30547441	A549	lung:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
24	POLR2A	chr16:30545631-30547458	HepG2	liver:	n/a	n/a
25	E2F6	chr16:30545684-30547455	K562	blood:	n/a	chr16:30546244-30546253
26	POU2F2	chr16:30546630-30547516	GM12891	blood:	n/a	n/a
27	POLR2A	chr16:30545479-30547554	K562	blood:	n/a	n/a
28	MAX	chr16:30545459-30547593	HepG2	liver:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
29	CHD1	chr16:30546094-30547184	H1-hESC	embryonic stem cell:	n/a	chr16:30546240-30546250
30	POLR2A	chr16:30545494-30546929	ECC-1	luminal epithelium:	n/a	n/a
31	NFATC1	chr16:30546256-30547549	GM12878	blood:	n/a	n/a
32	POLR2A	chr16:30545577-30547598	K562	blood:	n/a	n/a
33	MAX	chr16:30545982-30547552	NB4	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
34	TEAD4	chr16:30546155-30546955	K562	blood:	n/a	n/a
35	HCFC1	chr16:30544857-30547593	Hela-S3	cervix:	n/a	n/a
36	MAX	chr16:30545848-30547528	GM12878	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
37	MXI1	chr16:30546028-30547363	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr16:30545965-30547440	H1-hESC	embryonic stem cell:	n/a	n/a
39	RELA	chr16:30546196-30547459	GM19099	blood:	n/a	n/a
40	TAF1	chr16:30546857-30547412	K562	blood:	n/a	n/a
41	MYBL2	chr16:30545694-30547595	HepG2	liver:	n/a	n/a
42	RAD21	chr16:30546838-30547469	MCF-7	breast:	n/a	chr16:30547185-30547199
43	ELF1	chr16:30545583-30547362	GM12878	blood:	n/a	chr16:30546180-30546189
44	POLR2A	chr16:30545073-30547561	GM12892	blood:	n/a	n/a
45	RELA	chr16:30545897-30547446	GM12891	blood:	n/a	n/a
46	NFIC	chr16:30546764-30547511	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:30545038-30547584	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr16:30545827-30546909	ECC-1	luminal epithelium:	n/a	n/a
49	MBD4	chr16:30545860-30547450	HepG2	liver:	n/a	n/a
50	POLR2A	chr16:30545653-30547407	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30545157..30547413-chr16:30708234..30710909,2	K562	blood:
2	chr16:30439809..30443048-chr16:30544747..30548003,3	K562	blood:
3	chr16:30460806..30461674-chr16:30546744..30547629,4	MCF-7	breast:
4	chr16:30545798..30549380-chr16:30578344..30585176,6	K562	blood:
5	chr16:30545944..30548930-chr16:30568116..30571083,5	K562	blood:
6	chr16:30541129..30548783-chr16:30576543..30583587,16	MCF-7	breast:
7	chr16:30544664..30548849-chr16:30597277..30601099,4	K562	blood:
8	chr16:30544644..30549200-chr16:30579756..30585399,7	K562	blood:
9	chr16:30544819..30547359-chr16:30669370..30671346,2	MCF-7	breast:
10	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
11	chr16:30005844..30008552-chr16:30546352..30548283,2	K562	blood:
12	chr16:30544371..30547496-chr16:30661598..30664666,3	K562	blood:
13	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
14	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
15	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
16	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
17	chr15:74987753..74988712-chr16:30546350..30547141,2	Hela-S3	cervix:
18	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
19	chr16:30546047..30547051-chr16:30568755..30570523,5	MCF-7	breast:
20	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
21	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
22	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
23	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
24	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
25	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
26	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
27	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
28	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
29	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
ENSG00000261840	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000169592	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30544600-30547200	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr16:30544600-30547200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr16:30544600-30547600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr16:30544800-30547400	Active TSS	Gastric	stomach
6	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
8	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
13	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
14	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
15	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr16:30545200-30547200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr16:30545200-30547200	Active TSS	H1 Cell Line	embryonic stem cell
18	chr16:30545200-30547200	Active TSS	Aorta	Aorta
19	chr16:30545200-30547200	Active TSS	Ovary	ovary
20	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
22	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
23	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
24	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
25	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
26	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr16:30545400-30547000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:30545400-30547000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:30545400-30547000	Active TSS	Right Ventricle	heart
35	chr16:30545400-30547000	Active TSS	Spleen	Spleen
36	chr16:30545400-30547200	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr16:30545400-30547200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr16:30545400-30547200	Active TSS	Fetal Stomach	stomach
39	chr16:30545400-30547200	Active TSS	Left Ventricle	heart
40	chr16:30545400-30547200	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr16:30545400-30547400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:30545400-30547600	Active TSS	Esophagus	oesophagus
43	chr16:30545600-30547000	Active TSS	Fetal Muscle Trunk	muscle
44	chr16:30545600-30547200	Active TSS	Lung	lung
45	chr16:30545600-30547400	Active TSS	Thymus	Thymus
46	chr16:30545800-30547200	Active TSS	Brain Germinal Matrix	brain
47	chr16:30545800-30547200	Active TSS	Fetal Brain Male	brain
48	chr16:30545800-30547600	Flanking Active TSS	K562	blood
49	chr16:30546000-30547200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:30546200-30547000	Active TSS	Dnd41	blood

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