Variant report

Variant	rs451388
Chromosome Location	chr19:44507121-44507122
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:388)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:388 , 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	MAFK	chr19:44506790-44507229	K562	blood:	n/a	n/a
2	BHLHE40	chr19:44506745-44507917	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:44506762-44507632	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:44506629-44507354	MCF-7	breast:	n/a	n/a
5	GABPA	chr19:44506867-44507348	K562	blood:	n/a	chr19:44507267-44507276
6	POU2F2	chr19:44506799-44507753	GM12891	blood:	n/a	chr19:44507264-44507276
7	CTCF	chr19:44507080-44507230	A549	lung:	n/a	n/a
8	MYC	chr19:44506884-44507491	NB4	blood:	n/a	chr19:44507265-44507275
9	YY1	chr19:44506678-44507406	GM12878	blood:	n/a	chr19:44507267-44507276
10	TAF1	chr19:44506766-44507238	SK-N-SH	brain:	n/a	n/a
11	MAFK	chr19:44506861-44507238	HepG2	liver:	n/a	n/a
12	RCOR1	chr19:44506440-44507367	K562	blood:	n/a	n/a
13	SIN3AK20	chr19:44506761-44507315	A549	lung:	n/a	n/a
14	TAF1	chr19:44506687-44507297	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:44506673-44507443	ProgFib	skin:	n/a	n/a
16	CREB1	chr19:44506710-44507688	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:44506633-44507923	GM12878	blood:	n/a	n/a
18	ZNF143	chr19:44506729-44507350	H1-hESC	embryonic stem cell:	n/a	chr19:44506993-44507002 chr19:44506995-44507004 chr19:44507052-44507067 chr19:44507051-44507070 chr19:44507056-44507074
19	MAFK	chr19:44506772-44507261	HepG2	liver:	n/a	n/a
20	MYC	chr19:44506798-44507150	MCF10A-Er-Src	breast:	n/a	n/a
21	CHD2	chr19:44506775-44507654	GM12878	blood:	n/a	n/a
22	ZMIZ1	chr19:44506754-44507395	K562	blood:	n/a	n/a
23	YY1	chr19:44506791-44507216	GM12892	blood:	n/a	n/a
24	ELF1	chr19:44506751-44507449	MCF-7	breast:	n/a	chr19:44507099-44507110 chr19:44507099-44507110
25	SP1	chr19:44506647-44507414	A549	lung:	n/a	chr19:44507266-44507278 chr19:44507267-44507276 chr19:44507268-44507277 chr19:44507263-44507277 chr19:44507268-44507277
26	CEBPB	chr19:44506887-44507356	A549	lung:	n/a	n/a
27	POLR2A	chr19:44506381-44507453	MCF10A-Er-Src	breast:	n/a	n/a
28	YY1	chr19:44506751-44507373	ECC-1	luminal epithelium:	n/a	chr19:44507267-44507276
29	POLR2A	chr19:44506796-44507317	K562	blood:	n/a	n/a
30	PAX5	chr19:44506855-44507258	GM12878	blood:	n/a	chr19:44507099-44507108
31	USF2	chr19:44506920-44507273	Hela-S3	cervix:	n/a	n/a
32	GTF2F1	chr19:44507014-44507218	H1-hESC	embryonic stem cell:	n/a	n/a
33	SPI1	chr19:44506818-44507263	GM12891	blood:	n/a	n/a
34	CTCF	chr19:44506522-44507300	GM12878	blood:	n/a	n/a
35	POLR2A	chr19:44506819-44507564	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:44506762-44507370	H1-neurons	neurons:	n/a	n/a
37	NFIC	chr19:44506779-44507357	HepG2	liver:	n/a	n/a
38	TEAD4	chr19:44506756-44507234	H1-hESC	embryonic stem cell:	n/a	n/a
39	EP300	chr19:44506874-44507245	GM12878	blood:	n/a	chr19:44507100-44507107
40	CEBPB	chr19:44506959-44507245	HepG2	liver:	n/a	n/a
41	YY1	chr19:44506640-44507444	SK-N-SH	brain:	n/a	chr19:44507267-44507276
42	ELK1	chr19:44506792-44507264	K562	blood:	n/a	chr19:44507099-44507108 chr19:44507099-44507108
43	BCLAF1	chr19:44506694-44507591	GM12878	blood:	n/a	chr19:44507099-44507108
44	SIX5	chr19:44506792-44507165	H1-hESC	embryonic stem cell:	n/a	chr19:44506993-44507002 chr19:44506995-44507004
45	SIN3AK20	chr19:44506580-44507603	MCF-7	breast:	n/a	n/a
46	GABPA	chr19:44506410-44507830	A549	lung:	n/a	chr19:44507267-44507276
47	YY1	chr19:44506731-44507253	GM12891	blood:	n/a	n/a
48	MXI1	chr19:44506684-44507486	HepG2	liver:	n/a	n/a
49	CHD2	chr19:44506797-44507349	K562	blood:	n/a	n/a
50	MAX	chr19:44506738-44507410	GM12878	blood:	n/a	chr19:44507265-44507275

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44507080-44507130	HRPEpiC	eye:	n/a
2	chr19:44507080-44507130	GM12891	blood:	n/a
3	chr19:44507080-44507130	NHDF-neo	bronchial:	n/a
4	chr19:44507080-44507130	NT2-D1	testis:	n/a
5	chr19:44507080-44507130	AoSMC	blood vessel:	n/a
6	chr19:44507080-44507130	ECC-1	luminal epithelium:	n/a
7	chr19:44507080-44507130	Hela-S3	cervix:	n/a
8	chr19:44507080-44507130	HL-60	blood:	n/a
9	chr19:44507080-44507130	HUVEC	blood vessel:	n/a
10	chr19:44507080-44507130	NH-A	brain:	n/a
11	chr19:44507080-44507130	AG09319	gingival:	n/a
12	chr19:44507080-44507130	T-47D	breast:	n/a
13	chr19:44507080-44507130	HEEpiC	esophagus:	n/a
14	chr19:44507080-44507130	HCM	heart:	n/a
15	chr19:44507080-44507130	HCF	heart:	n/a
16	chr19:44507080-44507130	H1-hESC	embryonic stem cell:	embryo
17	chr19:44507080-44507130	PANC-1	pancreas:	n/a
18	chr19:44507080-44507130	PFSK-1	brain:	n/a
19	chr19:44507080-44507130	HCT-116	colon:	n/a
20	chr19:44507080-44507130	Hepatocyte	liver:	n/a
21	chr19:44507080-44507130	RPTEC	kidney:	n/a
22	chr19:44507080-44507130	HNPCEpiC	eye:	n/a
23	chr19:44507080-44507130	GM06990	blood:	n/a
24	chr19:44507080-44507130	SAEC	small airway:	n/a
25	chr19:44507080-44507130	MCF-7	breast:	n/a
26	chr19:44507080-44507130	HCPEpiC	choroid plexus:	n/a
27	chr19:44507080-44507130	CMK	blood:	n/a
28	chr19:44507080-44507130	K562	blood:	n/a
29	chr19:44507080-44507130	LNCaP	prostate:	n/a
30	chr19:44507080-44507130	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:44507080-44507130	AG09309	skin:	n/a
32	chr19:44507080-44507130	NB4	blood:	n/a
33	chr19:44507080-44507130	IMR90	lung:	fetal
34	chr19:44507080-44507130	ProgFib	skin:	n/a
35	chr19:44507080-44507130	MCF10A-Er-Src	breast:	n/a
36	chr19:44507080-44507130	HepG2	liver:	n/a
37	chr19:44507080-44507130	Caco-2	colon:	n/a
38	chr19:44507080-44507130	HAEpiC	amniotic membrane:	n/a
39	chr19:44507080-44507130	U87	brain:	n/a
40	chr19:44507080-44507130	PrEC	prostate:	n/a
41	chr19:44507080-44507130	AG04450	lung:	fetal
42	chr19:44507080-44507130	BJ	skin:	n/a
43	chr19:44507080-44507130	GM12878	blood:	n/a
44	chr19:44507080-44507130	ovcar-3	ovarian:	n/a
45	chr19:44507080-44507130	BE2_C	brain:	n/a
46	chr19:44507080-44507130	HRCEpiC	kidney:	n/a
47	chr19:44507080-44507130	NHBE	bronchial:	n/a
48	chr19:44507080-44507130	HIPEpiC	eye:	n/a
49	chr19:44507080-44507130	A549	lung:	n/a
50	chr19:44507080-44507130	SK-N-MC	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44486769..44491037-chr19:44505585..44508395,4	MCF-7	breast:
2	chr19:44506046..44508713-chr19:44597601..44599146,2	MCF-7	breast:
3	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
4	chr19:44506934..44508722-chr19:44508906..44511281,4	K562	blood:
5	chr19:44506534..44508269-chr19:44616199..44620011,3	K562	blood:
6	chr19:44505664..44508645-chr19:44527908..44530282,2	MCF-7	breast:
7	chr19:44487658..44489792-chr19:44505545..44508358,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF155-2	chr19:44507111-44508904	NONHSAT066652

No data

Variant related genes	Relation type
ENSG00000266921	TF binding region
ZNF230	TF binding region
ZNF230	CpG island
ENSG00000266921	CpG island
ENSG00000159882	Chromatin interaction
ENSG00000256294	Chromatin interaction
ENSG00000159885	Chromatin interaction
ENSG00000267022	Chromatin interaction
ENSG00000186019	Chromatin interaction
ENSG00000267144	Chromatin interaction
ENSG00000267680	Chromatin interaction
ENSG00000204920	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11083734	0.81[ASN][1000 genomes]
rs11083735	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11083736	0.89[EUR][1000 genomes]
rs11083737	0.90[EUR][1000 genomes]
rs11666432	0.85[EUR][1000 genomes]
rs12610472	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs1474061	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1996409	0.92[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2138823	0.89[EUR][1000 genomes]
rs2138824	0.89[EUR][1000 genomes]
rs2176431	0.89[EUR][1000 genomes]
rs382197	0.90[EUR][1000 genomes]
rs3826941	0.91[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs4239528	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs427608	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4299256	0.90[EUR][1000 genomes]
rs4371266	0.89[EUR][1000 genomes]
rs4375771	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4444434	0.90[EUR][1000 genomes]
rs454904	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4550576	0.83[EUR][1000 genomes]
rs4555257	0.89[EUR][1000 genomes]
rs4803668	0.89[EUR][1000 genomes]
rs4803672	0.89[EUR][1000 genomes]
rs55798868	0.89[EUR][1000 genomes]
rs56003307	0.90[EUR][1000 genomes]
rs56230322	0.89[EUR][1000 genomes]
rs56250154	0.88[EUR][1000 genomes]
rs57895932	0.82[EUR][1000 genomes]
rs62119177	0.89[EUR][1000 genomes]
rs6509135	0.90[EUR][1000 genomes]
rs6509137	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs7251015	0.89[EUR][1000 genomes]
rs7252213	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7255192	0.90[EUR][1000 genomes]
rs7257809	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8105003	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs8109313	0.92[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8109615	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs8110348	0.92[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs9646633	0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs451388	ZNF223	cis	Thyroid	GTEx
rs451388	ZNF223	cis	Skin Sun Exposed Lower leg	GTEx
rs451388	ZNF223	cis	Esophagus Mucosa	GTEx
rs451388	ZNF223	cis	Nerve Tibial	GTEx
rs451388	ZNF223	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44506000-44508400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:44506200-44507200	Active TSS	Rectal Smooth Muscle	rectum
3	chr19:44506200-44507600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr19:44506200-44507600	Active TSS	Fetal Brain Female	brain
5	chr19:44506200-44507600	Active TSS	NH-A	brain
6	chr19:44506200-44507800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:44506200-44507800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr19:44506200-44507800	Active TSS	Right Atrium	heart
9	chr19:44506200-44507800	Active TSS	Stomach Mucosa	stomach
10	chr19:44506200-44508000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:44506200-44508000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:44506200-44508000	Active TSS	Psoas Muscle	Psoas
13	chr19:44506200-44508000	Active TSS	Right Ventricle	heart
14	chr19:44506200-44508000	Active TSS	HSMMtube	muscle
15	chr19:44506200-44508200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:44506200-44508200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:44506200-44508200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr19:44506200-44508400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr19:44506200-44508400	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:44506200-44508400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:44506200-44508400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr19:44506200-44508400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:44506200-44508400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:44506400-44507600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr19:44506400-44507600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:44506400-44507600	Active TSS	Colonic Mucosa	Colon
27	chr19:44506400-44507600	Active TSS	Fetal Muscle Leg	muscle
28	chr19:44506400-44507800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:44506400-44507800	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr19:44506400-44507800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr19:44506400-44507800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:44506400-44507800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:44506400-44508000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:44506400-44508000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:44506400-44508000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:44506400-44508000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:44506400-44508000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:44506400-44508000	Active TSS	Fetal Intestine Small	intestine
39	chr19:44506400-44508000	Active TSS	Left Ventricle	heart
40	chr19:44506400-44508000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr19:44506400-44508200	Active TSS	H1 Cell Line	embryonic stem cell
42	chr19:44506400-44508400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr19:44506400-44508400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr19:44506400-44508400	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr19:44506600-44507400	Active TSS	Pancreas	Pancrea
46	chr19:44506600-44507400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr19:44506600-44507400	Active TSS	HMEC	breast
48	chr19:44506600-44507600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:44506600-44507600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr19:44506600-44507600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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