Variant report

Variant	rs560421543
Chromosome Location	chr19:52800469-52800470
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:252 , 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	ZBTB7A	chr19:52800341-52800564	K562	blood:	n/a	n/a
2	MXI1	chr19:52800419-52800693	K562	blood:	n/a	n/a
3	HEY1	chr19:52800351-52801420	K562	blood:	n/a	n/a
4	POLR2A	chr19:52800364-52800633	HCT-116	colon:	n/a	n/a
5	PAX5	chr19:52800192-52800852	GM12878	blood:	n/a	chr19:52800699-52800708
6	POLR2A	chr19:52800020-52800972	K562	blood:	n/a	n/a
7	RUNX3	chr19:52800330-52800942	GM12878	blood:	n/a	chr19:52800790-52800807
8	POLR2A	chr19:52800078-52801315	HepG2	liver:	n/a	n/a
9	MAX	chr19:52800378-52801076	SK-N-SH	brain:	n/a	n/a
10	ETS1	chr19:52800358-52800772	A549	lung:	n/a	n/a
11	POLR2A	chr19:52799947-52800813	PBDE	blood:	n/a	n/a
12	MAX	chr19:52800414-52800683	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:52800020-52801023	GM18505	blood:	n/a	n/a
14	ZMIZ1	chr19:52800139-52800870	K562	blood:	n/a	n/a
15	POLR2A	chr19:52800329-52801682	GM12878	blood:	n/a	n/a
16	MAX	chr19:52800380-52800917	K562	blood:	n/a	n/a
17	MAX	chr19:52800404-52800815	A549	lung:	n/a	n/a
18	MAZ	chr19:52799619-52801613	IMR90	lung:	n/a	n/a
19	POLR2A	chr19:52800325-52801117	GM12878	blood:	n/a	n/a
20	USF1	chr19:52800373-52800559	SK-N-SH_RA	brain:	n/a	n/a
21	MAX	chr19:52800363-52801565	K562	blood:	n/a	n/a
22	CCNT2	chr19:52800052-52800895	K562	blood:	n/a	n/a
23	MAX	chr19:52800115-52800905	K562	blood:	n/a	n/a
24	POLR2A	chr19:52800072-52800955	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:52800068-52801080	GM12892	blood:	n/a	n/a
26	POLR2A	chr19:52800364-52800695	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:52800426-52800649	HepG2	liver:	n/a	n/a
28	EGR1	chr19:52799937-52800947	K562	blood:	n/a	chr19:52800768-52800782 chr19:52800511-52800525
29	POLR2A	chr19:52799840-52801347	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:52800359-52801029	K562	blood:	n/a	n/a
31	POLR2A	chr19:52799923-52801098	K562	blood:	n/a	n/a
32	ZNF263	chr19:52800466-52801072	HEK293-T-REx	kidney:	n/a	n/a
33	CTCF	chr19:52800460-52800610	GM12868	blood:	n/a	n/a
34	POLR2A	chr19:52800343-52800726	PANC-1	pancreas:	n/a	n/a
35	POLR2A	chr19:52800347-52800946	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr19:52800312-52800640	SK-N-SH	brain:	n/a	n/a
37	CHD2	chr19:52800020-52800824	GM12878	blood:	n/a	n/a
38	CEBPD	chr19:52800352-52801134	K562	blood:	n/a	n/a
39	POLR2A	chr19:52800379-52800635	HepG2	liver:	n/a	n/a
40	SIN3A	chr19:52800410-52800782	GM12878	blood:	n/a	n/a
41	MYC	chr19:52800403-52800518	HUVEC	blood vessel:	n/a	n/a
42	BHLHE40	chr19:52800388-52801111	K562	blood:	n/a	n/a
43	IRF1	chr19:52800414-52800649	K562	blood:	n/a	n/a
44	POLR2A	chr19:52800366-52800695	HCT-116	colon:	n/a	n/a
45	POLR2A	chr19:52800377-52800582	HepG2	liver:	n/a	n/a
46	TAF1	chr19:52800372-52800624	GM12878	blood:	n/a	n/a
47	MYC	chr19:52800094-52800832	K562	blood:	n/a	n/a
48	POLR2A	chr19:52799967-52801511	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:52800209-52800734	A549	lung:	n/a	n/a
50	POLR2A	chr19:52800025-52801113	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:52800469-52800519	SKMC	muscle:	n/a
2	chr19:52800469-52800519	HRPEpiC	eye:	n/a
3	chr19:52800469-52800519	ovcar-3	ovarian:	n/a
4	chr19:52800469-52800519	HPAEpiC	pulmonary alveolar:	n/a
5	chr19:52800469-52800519	NH-A	brain:	n/a
6	chr19:52800469-52800519	LNCaP	prostate:	n/a
7	chr19:52800469-52800519	RPTEC	kidney:	n/a
8	chr19:52800469-52800519	AG10803	skin:	n/a
9	chr19:52800469-52800519	T-47D	breast:	n/a
10	chr19:52800469-52800519	A549	lung:	n/a
11	chr19:52800469-52800519	AG09309	skin:	n/a
12	chr19:52800469-52800519	HNPCEpiC	eye:	n/a
13	chr19:52800469-52800519	GM19239	blood:	n/a
14	chr19:52800469-52800519	GM06990	blood:	n/a
15	chr19:52800469-52800519	HIPEpiC	eye:	n/a
16	chr19:52800469-52800519	NHDF-neo	bronchial:	n/a
17	chr19:52800469-52800519	HCT-116	colon:	n/a
18	chr19:52800469-52800519	HL-60	blood:	n/a
19	chr19:52800469-52800519	Jurkat	blood:	n/a
20	chr19:52800469-52800519	K562	blood:	n/a
21	chr19:52800469-52800519	AoSMC	blood vessel:	n/a
22	chr19:52800469-52800519	PFSK-1	brain:	n/a
23	chr19:52800469-52800519	Hela-S3	cervix:	n/a
24	chr19:52800469-52800519	MCF10A-Er-Src	breast:	n/a
25	chr19:52800469-52800519	HAEpiC	amniotic membrane:	n/a
26	chr19:52800469-52800519	GM12891	blood:	n/a
27	chr19:52800469-52800519	HUVEC	blood vessel:	n/a
28	chr19:52800469-52800519	AG04450	lung:	fetal
29	chr19:52800469-52800519	SK-N-SH_RA	brain:	n/a
30	chr19:52800469-52800519	HCM	heart:	n/a
31	chr19:52800469-52800519	IMR90	lung:	fetal
32	chr19:52800469-52800519	HEK293	kidney:	embryo
33	chr19:52800469-52800519	Hepatocyte	liver:	n/a
34	chr19:52800469-52800519	HepG2	liver:	n/a
35	chr19:52800469-52800519	HCF	heart:	n/a
36	chr19:52800469-52800519	ECC-1	luminal epithelium:	n/a
37	chr19:52800469-52800519	GM12892	blood:	n/a
38	chr19:52800469-52800519	HCPEpiC	choroid plexus:	n/a
39	chr19:52800469-52800519	HRE	kidney:	n/a
40	chr19:52800469-52800519	SK-N-MC	brain:	n/a
41	chr19:52800469-52800519	HRCEpiC	kidney:	n/a
42	chr19:52800469-52800519	PANC-1	pancreas:	n/a
43	chr19:52800469-52800519	NT2-D1	testis:	n/a
44	chr19:52800469-52800519	SAEC	small airway:	n/a
45	chr19:52800469-52800519	HMEC	breast:	n/a
46	chr19:52800469-52800519	AG04449	skin:	fetal
47	chr19:52800469-52800519	BE2_C	brain:	n/a
48	chr19:52800469-52800519	HEEpiC	esophagus:	n/a
49	chr19:52800469-52800519	GM12878	blood:	n/a
50	chr19:52800469-52800519	NB4	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52771242..52774496-chr19:52796154..52801198,5	MCF-7	breast:
2	chr19:52776723..52778376-chr19:52800239..52801922,2	K562	blood:
3	chr19:52771362..52774263-chr19:52797982..52800693,2	K562	blood:
4	chr19:52799793..52802447-chr19:52803288..52807131,4	MCF-7	breast:
5	chr19:52772363..52775107-chr19:52799601..52802037,4	MCF-7	breast:
6	chr19:52799531..52802059-chr19:52803187..52805101,2	K562	blood:
7	chr1:147400307..147400981-chr19:52800137..52800809,2	MCF-7	breast:
8	chr19:52772712..52774263-chr19:52799047..52800693,2	K562	blood:

No data

Variant related genes	Relation type
ZNF480	TF binding region
ZNF480	CpG island
ENSG00000198464	Chromatin interaction
ENSG00000188092	Chromatin interaction
ENSG00000196214	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	esv3366000	chr19:52491073-52842946	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv912299	chr19:52795985-52832830	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
9	esv20268	chr19:52800177-52800862	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 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	chr19:52799600-52800800	Active TSS	Hela-S3	cervix
2	chr19:52799600-52800800	Active TSS	HSMMtube	muscle
3	chr19:52799600-52800800	Active TSS	K562	blood
4	chr19:52799600-52801000	Active TSS	Esophagus	oesophagus
5	chr19:52799600-52801000	Active TSS	Fetal Heart	heart
6	chr19:52799600-52801000	Active TSS	Gastric	stomach
7	chr19:52799600-52801000	Active TSS	Psoas Muscle	Psoas
8	chr19:52799600-52801000	Active TSS	Stomach Smooth Muscle	stomach
9	chr19:52799600-52801000	Active TSS	NH-A	brain
10	chr19:52799600-52801200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:52799600-52801200	Active TSS	Brain Hippocampus Middle	brain
12	chr19:52799600-52801200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:52799600-52801200	Active TSS	A549	lung
14	chr19:52799600-52801200	Active TSS	NHLF	lung
15	chr19:52799600-52801400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr19:52799600-52801400	Active TSS	Fetal Intestine Small	intestine
17	chr19:52799600-52801400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:52799600-52801400	Active TSS	GM12878-XiMat	blood
19	chr19:52799600-52801600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:52799600-52801600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr19:52799600-52801600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr19:52799600-52801600	Active TSS	Fetal Kidney	kidney
23	chr19:52799600-52801800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:52799600-52801800	Active TSS	Colonic Mucosa	Colon
25	chr19:52799800-52800600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr19:52799800-52800800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:52799800-52800800	Active TSS	Lung	lung
28	chr19:52799800-52800800	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr19:52799800-52801000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:52799800-52801000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:52799800-52801000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr19:52799800-52801000	Active TSS	Brain Angular Gyrus	brain
33	chr19:52799800-52801000	Active TSS	Duodenum Mucosa	Duodenum
34	chr19:52799800-52801000	Active TSS	Left Ventricle	heart
35	chr19:52799800-52801000	Active TSS	Pancreas	Pancrea
36	chr19:52799800-52801000	Bivalent/Poised TSS	HepG2	liver
37	chr19:52799800-52801200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:52799800-52801200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr19:52799800-52801200	Active TSS	Brain Substantia Nigra	brain
40	chr19:52799800-52801200	Active TSS	Fetal Lung	lung
41	chr19:52799800-52801200	Active TSS	Right Ventricle	heart
42	chr19:52799800-52801200	Active TSS	Small Intestine	intestine
43	chr19:52799800-52801200	Active TSS	HMEC	breast
44	chr19:52799800-52801400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:52799800-52801400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr19:52799800-52801400	Active TSS	Aorta	Aorta
47	chr19:52799800-52801400	Active TSS	Ovary	ovary
48	chr19:52799800-52801600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:52799800-52801600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:52799800-52801600	Active TSS	iPS-18 Cell Line	embryonic stem cell

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