Variant report

Variant	rs56391383
Chromosome Location	chr16:30538419-30538420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:502)
CpG islands
(count:0)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:30537490-30539229	A549	lung:	n/a	chr16:30537813-30537823 chr16:30538117-30538127
2	MAFK	chr16:30538312-30538975	K562	blood:	n/a	n/a
3	POLR2A	chr16:30537854-30539119	HepG2	liver:	n/a	n/a
4	CTCF	chr16:30538340-30538490	BE2_C	brain:	n/a	n/a
5	POLR2A	chr16:30537943-30539641	HL-60	blood:	n/a	n/a
6	POLR2A	chr16:30537698-30539283	GM18526	blood:	n/a	n/a
7	IRF1	chr16:30538124-30538614	K562	blood:	n/a	n/a
8	CTCF	chr16:30538360-30538510	SK-N-SH_RA	brain:	n/a	n/a
9	HEY1	chr16:30538001-30538775	K562	blood:	n/a	n/a
10	POLR2A	chr16:30538062-30539219	U87	brain:	n/a	n/a
11	RCOR1	chr16:30538154-30538973	Hela-S3	cervix:	n/a	n/a
12	MYC	chr16:30538008-30538748	K562	blood:	n/a	chr16:30538117-30538127
13	POLR2A	chr16:30537177-30539717	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr16:30537559-30539552	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:30537479-30539206	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr16:30538062-30539204	U87	brain:	n/a	n/a
17	HMGN3	chr16:30537510-30538978	K562	blood:	n/a	n/a
18	HA-E2F1	chr16:30538273-30539456	MCF-7	breast:	n/a	n/a
19	GATA2	chr16:30538219-30538929	SH-SY5Y	brain:	n/a	n/a
20	POLR2A	chr16:30537047-30547480	HepG2	liver:	n/a	n/a
21	SIX5	chr16:30537866-30538658	A549	lung:	n/a	n/a
22	CEBPD	chr16:30538088-30538526	HepG2	liver:	n/a	n/a
23	PML	chr16:30538024-30539123	K562	blood:	n/a	n/a
24	CTCF	chr16:30538372-30538506	MCF-7	breast:	n/a	n/a
25	MAFK	chr16:30538339-30538501	HepG2	liver:	n/a	n/a
26	RFX5	chr16:30538126-30538953	HepG2	liver:	n/a	n/a
27	POLR2A	chr16:30537537-30539147	HCT-116	colon:	n/a	n/a
28	POLR2A	chr16:30538243-30539242	H1-hESC	embryonic stem cell:	n/a	n/a
29	RCOR1	chr16:30538153-30538425	GM12878	blood:	n/a	n/a
30	MYC	chr16:30538338-30538459	MCF-7	breast:	n/a	n/a
31	CTCF	chr16:30538360-30538510	GM12873	blood:	n/a	n/a
32	POLR2A	chr16:30534206-30539418	K562	blood:	n/a	n/a
33	CTCF	chr16:30538379-30538481	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr16:30538414-30538455	GM13977	blood:	n/a	n/a
35	GATA3	chr16:30537814-30539761	MCF-7	breast:	n/a	n/a
36	POLR2A	chr16:30538150-30538657	GM12878	blood:	n/a	n/a
37	CBX3	chr16:30538041-30539317	K562	blood:	n/a	n/a
38	CTCF	chr16:30538413-30538521	GM10266	blood:	n/a	n/a
39	MAX	chr16:30537280-30539454	A549	lung:	n/a	chr16:30537813-30537823 chr16:30538117-30538127
40	CTCF	chr16:30538400-30538550	GM06990	blood:	n/a	n/a
41	ELK1	chr16:30538120-30539280	GM12878	blood:	n/a	n/a
42	RUNX3	chr16:30537978-30539624	GM12878	blood:	n/a	n/a
43	CTCF	chr16:30538400-30538550	GM12875	blood:	n/a	n/a
44	CTCF	chr16:30538400-30538550	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr16:30538253-30539497	GM12891	blood:	n/a	n/a
46	SIN3AK20	chr16:30537130-30539722	MCF-7	breast:	n/a	n/a
47	YY1	chr16:30537285-30539430	GM12878	blood:	n/a	chr16:30538171-30538185 chr16:30537527-30537538 chr16:30537813-30537827 chr16:30538176-30538185 chr16:30537757-30537766 chr16:30537755-30537766 chr16:30537853-30537867
48	MYC	chr16:30537302-30539461	NB4	blood:	n/a	chr16:30537813-30537823 chr16:30538117-30538127
49	UBTF	chr16:30538054-30538785	K562	blood:	n/a	n/a
50	POLR2A	chr16:30537953-30539309	U87	brain:	n/a	n/a

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30535819..30539359-chr16:30595521..30599698,5	K562	blood:
2	chr16:30440046..30442872-chr16:30536720..30539677,5	K562	blood:
3	chr16:30537906..30538429-chr16:89626766..89627266,2	Hela-S3	cervix:
4	chr16:30536816..30539624-chr16:30583341..30586431,3	K562	blood:
5	chr1:32859762..32860385-chr16:30538155..30538944,2	HCT-116	colon:
6	chr16:30440009..30443197-chr16:30535853..30539988,5	K562	blood:
7	chr16:30453602..30463168-chr16:30533711..30543502,36	MCF-7	breast:
8	chr16:30535183..30540797-chr16:30579748..30584975,15	MCF-7	breast:
9	chr16:30490143..30492856-chr16:30536156..30538564,2	MCF-7	breast:
10	chr16:30537465..30539129-chr6:26197966..26199799,2	MCF-7	breast:
11	chr16:30514629..30516699-chr16:30537334..30538989,2	K562	blood:
12	chr16:30534593..30542459-chr16:30576363..30586049,22	MCF-7	breast:
13	chr16:30456455..30457195-chr16:30537657..30538433,2	Hela-S3	cervix:
14	chr16:30368897..30371646-chr16:30537038..30539348,2	K562	blood:
15	chr16:30537092..30540125-chr16:30618129..30621558,4	K562	blood:
16	chr16:30534557..30548684-chr16:30561877..30572653,49	MCF-7	breast:
17	chr16:30534881..30538738-chr16:30669014..30672874,5	MCF-7	breast:
18	chr16:30538024..30538699-chr21:43299567..43300180,2	Hela-S3	cervix:
19	chr16:30538377..30542208-chr16:30619614..30623452,7	MCF-7	breast:
20	chr16:30538416..30540910-chr16:30673584..30675872,2	MCF-7	breast:
21	chr16:30427799..30431834-chr16:30534294..30540593,7	MCF-7	breast:
22	chr16:30536975..30539864-chr3:49506980..49509217,2	MCF-7	breast:
23	chr16:30536717..30540030-chr16:30566020..30569997,3	K562	blood:
24	chr1:149222310..149225092-chr16:30538220..30540895,2	MCF-7	breast:
25	chr16:30536312..30540010-chr16:30593652..30599869,13	MCF-7	breast:
26	chr16:30537318..30540001-chr16:30620058..30621938,2	K562	blood:
27	chr16:30513905..30517133-chr16:30536208..30538524,4	MCF-7	breast:
28	chr16:30455473..30459331-chr16:30536494..30540885,5	K562	blood:
29	chr1:51425802..51426330-chr16:30537827..30538481,2	HCT-116	colon:
30	chr16:30535779..30539932-chr16:30594459..30598426,6	MCF-7	breast:
31	chr16:30536903..30539690-chr16:30709455..30711215,2	K562	blood:
32	chr16:30537304..30542390-chr16:30581808..30586488,7	K562	blood:
33	chr1:117601900..117602793-chr16:30538050..30538667,2	Hela-S3	cervix:
34	chr16:30536695..30540828-chr16:30620519..30623235,5	MCF-7	breast:
35	chr13:48611824..48612632-chr16:30537739..30538683,2	HCT-116	colon:
36	chr16:30537916..30540494-chr16:30660265..30663617,4	K562	blood:
37	chr16:30430091..30431864-chr16:30536696..30538449,2	K562	blood:
38	chr16:30537007..30539690-chr16:30709715..30713303,3	K562	blood:
39	chr16:30520573..30524567-chr16:30535660..30540448,6	MCF-7	breast:
40	chr16:30537208..30540827-chr16:30710007..30712078,3	MCF-7	breast:
41	chr16:30494764..30496876-chr16:30536882..30538682,2	MCF-7	breast:
42	chr16:30537270..30540938-chr16:30667776..30670897,3	K562	blood:
43	chr16:30439037..30443694-chr16:30535718..30544524,17	MCF-7	breast:
44	chr16:30453263..30460635-chr16:30534974..30549190,40	MCF-7	breast:
45	chr16:30537776..30539709-chr16:30967467..30970104,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF768	TF binding region
ENSG00000222287	Chromatin interaction
ENSG00000197162	Chromatin interaction
ENSG00000229809	Chromatin interaction
ENSG00000260167	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000260487	Chromatin interaction
ENSG00000005844	Chromatin interaction
ENSG00000261588	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000167526	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000236137	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000156853	Chromatin interaction
ENSG00000173402	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000185104	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000239791	Chromatin interaction
ENSG00000266305	Chromatin interaction
ENSG00000141956	Chromatin interaction
ENSG00000160058	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10871453	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6565191	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9673428	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv905726	chr16:30528272-30546488	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Enhancers 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	50 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30536600-30539000	Active TSS	Hela-S3	cervix
2	chr16:30537000-30539000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:30537000-30539000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr16:30537000-30539000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr16:30537000-30539000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr16:30537000-30539000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:30537200-30538800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr16:30537200-30538800	Active TSS	Fetal Kidney	kidney
9	chr16:30537200-30538800	Active TSS	Gastric	stomach
10	chr16:30537200-30538800	Active TSS	Small Intestine	intestine
11	chr16:30537200-30538800	Active TSS	HSMMtube	muscle
12	chr16:30537200-30538800	Active TSS	NHLF	lung
13	chr16:30537200-30539000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:30537200-30539000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:30537200-30539000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:30537200-30539000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:30537200-30539000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:30537200-30539000	Active TSS	Primary T cells from cord blood	blood
19	chr16:30537200-30539000	Active TSS	Colonic Mucosa	Colon
20	chr16:30537200-30539000	Active TSS	Left Ventricle	heart
21	chr16:30537200-30539000	Active TSS	Psoas Muscle	Psoas
22	chr16:30537200-30539000	Active TSS	A549	lung
23	chr16:30537200-30539000	Active TSS	HSMM	muscle
24	chr16:30537200-30539200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr16:30537200-30539400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr16:30537400-30538600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr16:30537400-30538800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:30537400-30538800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr16:30537400-30538800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:30537400-30538800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr16:30537400-30538800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30537400-30538800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:30537400-30538800	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr16:30537400-30538800	Active TSS	NHDF-Ad	bronchial
35	chr16:30537400-30538800	Active TSS	NHEK	skin
36	chr16:30537400-30538800	Active TSS	Osteobl	bone
37	chr16:30537400-30539000	Active TSS	H1 Cell Line	embryonic stem cell
38	chr16:30537400-30539000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:30537400-30539000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr16:30537400-30539000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr16:30537400-30539000	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr16:30537400-30539000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:30537400-30539000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr16:30537400-30539000	Active TSS	Brain Substantia Nigra	brain
45	chr16:30537400-30539000	Active TSS	Colon Smooth Muscle	Colon
46	chr16:30537400-30539000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr16:30537400-30539000	Active TSS	Esophagus	oesophagus
48	chr16:30537400-30539000	Active TSS	Fetal Intestine Large	intestine
49	chr16:30537400-30539000	Active TSS	Fetal Lung	lung
50	chr16:30537400-30539000	Active TSS	Rectal Mucosa Donor 31	rectum

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