Variant report

Variant	rs56041903
Chromosome Location	chr16:75182443-75182444
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr16:75182050-75182745	GM12878	blood:	n/a	n/a
2	HEY1	chr16:75182325-75183102	HepG2	liver:	n/a	chr16:75182408-75182423 chr16:75182686-75182701 chr16:75182401-75182416
3	PAX5	chr16:75182177-75183052	GM12878	blood:	n/a	chr16:75182925-75182944 chr16:75182404-75182413
4	ELK1	chr16:75182095-75182624	GM12878	blood:	n/a	n/a
5	BHLHE40	chr16:75182220-75183133	HepG2	liver:	n/a	chr16:75182568-75182584
6	MAX	chr16:75182262-75183092	HepG2	liver:	n/a	n/a
7	TAF1	chr16:75182276-75183150	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr16:75181954-75182695	ECC-1	luminal epithelium:	n/a	n/a
9	HDAC2	chr16:75182260-75182582	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr16:75182265-75183111	K562	blood:	n/a	n/a
11	SIN3A	chr16:75182325-75183101	GM12878	blood:	n/a	n/a
12	HDAC2	chr16:75182302-75182561	K562	blood:	n/a	n/a
13	FOXP2	chr16:75182247-75182818	PFSK-1	brain:	n/a	n/a
14	KAP1	chr16:75182154-75182636	HEK293	kidney:	n/a	n/a
15	CCNT2	chr16:75182230-75183050	K562	blood:	n/a	chr16:75182739-75182748
16	EP300	chr16:75182239-75182574	H1-hESC	embryonic stem cell:	n/a	n/a
17	RUNX3	chr16:75182053-75183173	GM12878	blood:	n/a	n/a
18	ARID3A	chr16:75182257-75182470	HepG2	liver:	n/a	n/a
19	ELF1	chr16:75182073-75182562	A549	lung:	n/a	n/a
20	STAT5A	chr16:75182055-75182734	GM12878	blood:	n/a	chr16:75182130-75182138
21	HCFC1	chr16:75182065-75183103	K562	blood:	n/a	n/a
22	MXI1	chr16:75181714-75183664	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr16:75182226-75182973	K562	blood:	n/a	n/a
24	RCOR1	chr16:75182065-75183173	GM12878	blood:	n/a	n/a
25	SP1	chr16:75181982-75182802	A549	lung:	n/a	chr16:75182739-75182748 chr16:75182738-75182750 chr16:75182740-75182749 chr16:75182751-75182765 chr16:75182738-75182750 chr16:75182740-75182749 chr16:75182340-75182351
26	SIN3AK20	chr16:75182004-75183492	MCF-7	breast:	n/a	n/a
27	MTA3	chr16:75181995-75183243	GM12878	blood:	n/a	n/a
28	PML	chr16:75182139-75182853	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:75182201-75182991	Hela-S3	cervix:	n/a	n/a
30	TCF12	chr16:75182150-75182617	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr16:75182166-75183253	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr16:75182153-75183253	GM12892	blood:	n/a	n/a
33	POLR2A	chr16:75182082-75183170	HCT-116	colon:	n/a	n/a
34	MYC	chr16:75182249-75183071	MCF-7	breast:	n/a	n/a
35	NFIC	chr16:75182054-75182606	GM12878	blood:	n/a	n/a
36	ELF1	chr16:75182177-75183152	GM12878	blood:	n/a	n/a
37	MAZ	chr16:75182182-75183008	HepG2	liver:	n/a	n/a
38	PML	chr16:75182171-75182734	K562	blood:	n/a	n/a
39	EP300	chr16:75182294-75182855	A549	lung:	n/a	n/a
40	BCLAF1	chr16:75182095-75182713	GM12878	blood:	n/a	n/a
41	TAF1	chr16:75182297-75183026	K562	blood:	n/a	n/a
42	BHLHE40	chr16:75182257-75183145	K562	blood:	n/a	chr16:75182568-75182584
43	BHLHE40	chr16:75182122-75182968	GM12878	blood:	n/a	chr16:75182568-75182584
44	POLR2A	chr16:75182123-75182941	PFSK-1	brain:	n/a	n/a
45	NR2F2	chr16:75182144-75183038	MCF-7	breast:	n/a	n/a
46	NFIC	chr16:75181998-75182599	HepG2	liver:	n/a	n/a
47	ZBTB7A	chr16:75182176-75182564	HepG2	liver:	n/a	n/a
48	USF1	chr16:75182193-75182497	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr16:75182203-75182775	ECC-1	luminal epithelium:	n/a	n/a
50	YY1	chr16:75182149-75182555	HCT-116	colon:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:75182251..75184924-chr16:75259664..75261950,2	MCF-7	breast:
2	chr16:75181071..75184316-chr16:75297168..75299985,3	MCF-7	breast:
3	chr16:75033285..75035849-chr16:75182221..75186570,6	MCF-7	breast:
4	chr16:75031594..75033215-chr16:75181027..75183191,2	K562	blood:
5	chr16:75181232..75184000-chr17:56708732..56710765,2	MCF-7	breast:
6	chr16:75033322..75034846-chr16:75181064..75182693,2	MCF-7	breast:
7	chr16:74919621..74922427-chr16:75181112..75183040,2	MCF-7	breast:
8	chr16:75181464..75183944-chr16:75497097..75499788,2	MCF-7	breast:
9	chr16:75031594..75033787-chr16:75181462..75183191,2	K562	blood:
10	chr16:75143108..75146858-chr16:75181217..75184303,4	MCF-7	breast:
11	chr1:109203595..109204432-chr16:75182336..75183322,2	Hela-S3	cervix:
12	chr16:75147673..75151734-chr16:75182239..75183990,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNRF1-1	chr16:75182392-75182541	NONHSAT143720
2	lnc-ZNRF1-1	chr16:75182408-75182560	NONHSAT143722

No data

Variant related genes	Relation type
ZFP1	TF binding region
ENSG00000247033	Chromatin interaction
ENSG00000240338	Chromatin interaction
ENSG00000186187	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000162639	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000050820	Chromatin interaction
ENSG00000103091	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000166816	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11538267	1.00[ASN][1000 genomes]
rs11640206	1.00[ASN][1000 genomes]
rs11641289	1.00[ASN][1000 genomes]
rs11642025	1.00[ASN][1000 genomes]
rs12933939	1.00[ASN][1000 genomes]
rs2081214	1.00[ASN][1000 genomes]
rs34871232	1.00[ASN][1000 genomes]
rs4888359	1.00[ASN][1000 genomes]
rs7184887	1.00[ASN][1000 genomes]
rs7195528	1.00[ASN][1000 genomes]
rs72802307	1.00[ASN][1000 genomes]
rs72802316	1.00[ASN][1000 genomes]
rs8047117	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1066130	chr16:74983759-75231161	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers 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	47 gene(s)	inside rSNPs	diseases
6	esv2761914	chr16:75152826-75190708	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv1791872	chr16:75167579-75189792	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75181600-75183000	Active TSS	Primary B cells from cord blood	blood
2	chr16:75181600-75183200	Active TSS	Thymus	Thymus
3	chr16:75181800-75183000	Active TSS	Brain Anterior Caudate	brain
4	chr16:75181800-75183400	Active TSS	Brain Angular Gyrus	brain
5	chr16:75181800-75183400	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr16:75181800-75183400	Active TSS	K562	blood
7	chr16:75181800-75183600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr16:75181800-75183800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:75182000-75182600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr16:75182000-75182800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:75182000-75183000	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr16:75182000-75183000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr16:75182000-75183000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:75182000-75183000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:75182000-75183000	Active TSS	Duodenum Mucosa	Duodenum
16	chr16:75182000-75183000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr16:75182000-75183000	Active TSS	Fetal Intestine Small	intestine
18	chr16:75182000-75183000	Active TSS	Fetal Muscle Leg	muscle
19	chr16:75182000-75183000	Active TSS	Rectal Smooth Muscle	rectum
20	chr16:75182000-75183000	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr16:75182000-75183000	Active TSS	NHDF-Ad	bronchial
22	chr16:75182000-75183200	Active TSS	Brain Cingulate Gyrus	brain
23	chr16:75182000-75183200	Active TSS	Fetal Kidney	kidney
24	chr16:75182000-75183200	Active TSS	NH-A	brain
25	chr16:75182000-75183200	Active TSS	NHLF	lung
26	chr16:75182000-75183400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:75182000-75183400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:75182000-75183400	Active TSS	Brain Germinal Matrix	brain
29	chr16:75182000-75183400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr16:75182000-75183400	Active TSS	Brain Substantia Nigra	brain
31	chr16:75182000-75183400	Active TSS	Fetal Intestine Large	intestine
32	chr16:75182000-75183400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr16:75182000-75183400	Active TSS	Fetal Stomach	stomach
34	chr16:75182000-75183400	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr16:75182000-75183400	Active TSS	Stomach Smooth Muscle	stomach
36	chr16:75182000-75183600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr16:75182000-75183600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:75182000-75183600	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:75182000-75183600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr16:75182000-75183600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr16:75182000-75183600	Active TSS	A549	lung
42	chr16:75182000-75183600	Active TSS	GM12878-XiMat	blood
43	chr16:75182000-75183600	Active TSS	HMEC	breast
44	chr16:75182000-75183800	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr16:75182000-75183800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr16:75182200-75182800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr16:75182200-75182800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr16:75182200-75183000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:75182200-75183000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:75182200-75183000	Active TSS	Primary neutrophils fromperipheralblood	blood

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