Variant report

Variant	rs574914655
Chromosome Location	chr16:30546664-30546665
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

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	HDAC2	chr16:30545836-30546815	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:30545269-30546761	MCF-7	breast:	n/a	n/a
5	POLR2A	chr16:30546202-30547434	K562	blood:	n/a	n/a
6	E2F6	chr16:30546260-30546742	K562	blood:	n/a	n/a
7	MXI1	chr16:30545989-30547304	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr16:30546215-30546664	GM12891	blood:	n/a	n/a
9	PML	chr16:30546167-30546920	K562	blood:	n/a	n/a
10	POLR2A	chr16:30545471-30546702	PANC-1	pancreas:	n/a	n/a
11	USF1	chr16:30546474-30546746	SK-N-SH_RA	brain:	n/a	n/a
12	ELF1	chr16:30545882-30546809	A549	lung:	n/a	chr16:30546180-30546189
13	SRF	chr16:30545851-30546816	MCF-7	breast:	n/a	n/a
14	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
15	FOXM1	chr16:30546016-30547595	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:30545516-30547300	SK-N-SH	brain:	n/a	n/a
17	ELK1	chr16:30545990-30546778	GM12878	blood:	n/a	n/a
18	POLR2A	chr16:30545684-30546775	PANC-1	pancreas:	n/a	n/a
19	TAF1	chr16:30545687-30546748	A549	lung:	n/a	n/a
20	POLR2A	chr16:30545377-30547476	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:30546227-30546707	K562	blood:	n/a	n/a
22	POLR2A	chr16:30545731-30547295	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:30545540-30547380	MCF10A-Er-Src	breast:	n/a	n/a
24	RFX5	chr16:30545973-30546782	Hela-S3	cervix:	n/a	n/a
25	MAX	chr16:30545663-30547523	Hela-S3	cervix:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
26	ETS1	chr16:30545893-30546688	A549	lung:	n/a	n/a
27	POLR2A	chr16:30545715-30547313	MCF-7	breast:	n/a	n/a
28	TAF1	chr16:30545324-30547329	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPD	chr16:30546218-30546893	K562	blood:	n/a	n/a
30	REST	chr16:30545623-30547398	H1-neurons	neurons:	n/a	n/a
31	EGR1	chr16:30545789-30546797	HCT-116	colon:	n/a	chr16:30546331-30546340 chr16:30546245-30546258 chr16:30546245-30546258
32	GABPA	chr16:30545834-30546801	A549	lung:	n/a	chr16:30546244-30546253 chr16:30546327-30546341 chr16:30546242-30546251 chr16:30546330-30546341
33	SIX5	chr16:30545762-30546871	A549	lung:	n/a	n/a
34	MYC	chr16:30546196-30547552	K562	blood:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
35	PML	chr16:30546108-30546901	MCF-7	breast:	n/a	n/a
36	SP4	chr16:30545963-30546709	H1-hESC	embryonic stem cell:	n/a	chr16:30546228-30546244
37	REST	chr16:30545867-30546908	A549	lung:	n/a	n/a
38	POLR2A	chr16:30545082-30547574	K562	blood:	n/a	n/a
39	MAX	chr16:30545841-30546845	SK-N-SH	brain:	n/a	n/a
40	MAZ	chr16:30545651-30546851	IMR90	lung:	n/a	n/a
41	POLR2A	chr16:30545728-30546854	HCT-116	colon:	n/a	n/a
42	TCF7L2	chr16:30546022-30546766	HEK293	kidney:	n/a	n/a
43	MAX	chr16:30545502-30547441	A549	lung:	n/a	chr16:30547147-30547157 chr16:30547382-30547390
44	POLR2A	chr16:30545631-30547458	HepG2	liver:	n/a	n/a
45	POLR2A	chr16:30545506-30546710	GM18951	blood:	n/a	n/a
46	E2F6	chr16:30545684-30547455	K562	blood:	n/a	chr16:30546244-30546253
47	MAX	chr16:30545801-30546882	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr16:30545836-30546693	HCT-116	colon:	n/a	chr16:30546286-30546294 chr16:30546287-30546297 chr16:30546173-30546185 chr16:30546275-30546297 chr16:30546280-30546299
49	SP1	chr16:30546006-30546731	A549	lung:	n/a	chr16:30546237-30546246
50	POU2F2	chr16:30546630-30547516	GM12891	blood:	n/a	n/a

No data

(count:33 , 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	chr16:30545890..30546725-chr16:30596237..30597056,2	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	chr16:30545877..30546777-chr16:30569372..30569939,2	MCF-7	breast:
14	chr16:30544993..30547961-chr16:30709430..30711142,2	MCF-7	breast:
15	chr16:30454223..30458795-chr16:30544992..30549263,8	K562	blood:
16	chr16:30545394..30548849-chr16:30597035..30599710,5	K562	blood:
17	chr16:30543696..30550338-chr16:30595198..30599305,8	MCF-7	breast:
18	chr15:74987753..74988712-chr16:30546350..30547141,2	Hela-S3	cervix:
19	chr16:30545950..30548016-chr16:30593866..30595434,2	MCF-7	breast:
20	chr16:30546047..30547051-chr16:30568755..30570523,5	MCF-7	breast:
21	chr16:30440316..30443197-chr16:30545164..30548518,4	MCF-7	breast:
22	chr16:30454856..30459511-chr16:30543910..30548861,10	K562	blood:
23	chr16:30545917..30548270-chr16:30592742..30594990,2	K562	blood:
24	chr16:30439652..30442096-chr16:30544594..30547144,2	MCF-7	breast:
25	chr16:30546152..30546832-chr7:100026182..100026840,2	HCT-116	colon:
26	chr16:30455846..30458629-chr16:30545743..30547752,2	MCF-7	breast:
27	chr16:30541481..30548892-chr16:30595486..30600580,13	MCF-7	breast:
28	chr16:30545465..30548885-chr16:30620195..30623109,3	MCF-7	breast:
29	chr16:30545977..30548808-chr16:30568240..30572636,5	K562	blood:
30	chr16:30546029..30546868-chr2:98279946..98280837,2	Hela-S3	cervix:
31	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
32	chr16:30545719..30548048-chr16:30583510..30586476,3	MCF-7	breast:
33	chr16:30546309..30546854-chr9:74525390..74526075,2	Hela-S3	cervix:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGAL-2	chr16:30546394-30546801	ENSG00000235560
2	lnc-ITGAL-2	chr16:30546432-30546801	ENSG00000235560.3
3	lnc-ITGAL-2	chr16:30546073-30546801	ENSG00000235560.3

No data

Variant related genes	Relation type
ENSG00000261459	TF binding region
ZNF747	TF binding region
ENSG00000169592	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000107362	Chromatin interaction
ENSG00000115073	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000149929	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000156860	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	chr16:30544800-30546800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:30544800-30547400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr16:30544800-30547400	Active TSS	Gastric	stomach
7	chr16:30544800-30547600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr16:30544800-30547600	Active TSS	Fetal Kidney	kidney
9	chr16:30544800-30547800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr16:30544800-30547800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:30545000-30546800	Active TSS	Duodenum Mucosa	Duodenum
12	chr16:30545000-30547200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr16:30545000-30547200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:30545000-30547200	Active TSS	Pancreas	Pancrea
15	chr16:30545000-30547200	Active TSS	GM12878-XiMat	blood
16	chr16:30545000-30547200	Active TSS	Hela-S3	cervix
17	chr16:30545000-30547400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:30545200-30546800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr16:30545200-30546800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:30545200-30547200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr16:30545200-30547200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr16:30545200-30547200	Active TSS	Aorta	Aorta
23	chr16:30545200-30547200	Active TSS	Ovary	ovary
24	chr16:30545200-30547400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr16:30545200-30547400	Active TSS	Fetal Brain Female	brain
26	chr16:30545200-30547400	Active TSS	Psoas Muscle	Psoas
27	chr16:30545200-30547400	Active TSS	Small Intestine	intestine
28	chr16:30545200-30547400	Active TSS	HSMMtube	muscle
29	chr16:30545200-30547400	Flanking Active TSS	HUVEC	blood vessel
30	chr16:30545200-30547600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr16:30545200-30547600	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr16:30545200-30547600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr16:30545200-30547800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr16:30545200-30547800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:30545200-30547800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:30545400-30546800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:30545400-30546800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr16:30545400-30546800	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr16:30545400-30546800	Active TSS	Brain Angular Gyrus	brain
40	chr16:30545400-30546800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:30545400-30546800	Active TSS	Colon Smooth Muscle	Colon
42	chr16:30545400-30546800	Active TSS	Right Atrium	heart
43	chr16:30545400-30547000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr16:30545400-30547000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
45	chr16:30545400-30547000	Active TSS	Right Ventricle	heart
46	chr16:30545400-30547000	Active TSS	Spleen	Spleen
47	chr16:30545400-30547200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr16:30545400-30547200	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr16:30545400-30547200	Active TSS	Fetal Stomach	stomach
50	chr16:30545400-30547200	Active TSS	Left Ventricle	heart

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