Variant report

Variant	rs10407032
Chromosome Location	chr19:45004743-45004744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr19:45004110-45004995	GM12878	blood:	n/a	n/a
2	TCF12	chr19:45004012-45005053	ECC-1	luminal epithelium:	n/a	n/a
3	ELK1	chr19:45004184-45004914	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:45004059-45004981	SK-N-SH	brain:	n/a	n/a
5	USF1	chr19:45003848-45004753	A549	lung:	n/a	n/a
6	CBX3	chr19:45004025-45005115	K562	blood:	n/a	n/a
7	SIN3A	chr19:45004099-45004893	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:45004046-45005014	GM12878	blood:	n/a	n/a
9	CTCF	chr19:45004503-45004965	GM12891	blood:	n/a	n/a
10	SRF	chr19:45004077-45005015	ECC-1	luminal epithelium:	n/a	chr19:45004681-45004691
11	YY1	chr19:45004243-45005042	A549	lung:	n/a	chr19:45004729-45004743
12	POLR2A	chr19:45004154-45004931	GM12878	blood:	n/a	n/a
13	PML	chr19:45004160-45005036	MCF-7	breast:	n/a	n/a
14	MYC	chr19:45004028-45004891	MCF10A-Er-Src	breast:	n/a	chr19:45004308-45004317
15	USF1	chr19:45004613-45004942	H1-hESC	embryonic stem cell:	n/a	n/a
16	SRF	chr19:45004346-45005053	MCF-7	breast:	n/a	chr19:45004681-45004691
17	THAP1	chr19:45004582-45004882	K562	blood:	n/a	chr19:45004693-45004717
18	POLR2A	chr19:45003858-45005169	GM12878	blood:	n/a	n/a
19	CEBPB	chr19:45004221-45005098	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr19:45004181-45004930	Hela-S3	cervix:	n/a	chr19:45004308-45004317
21	MXI1	chr19:45004182-45004957	K562	blood:	n/a	n/a
22	TCF12	chr19:45004492-45005010	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr19:45004007-45005084	MCF-7	breast:	n/a	chr19:45004308-45004317
24	REST	chr19:45004284-45004798	PFSK-1	brain:	n/a	n/a
25	BCL3	chr19:45003550-45005172	A549	lung:	n/a	chr19:45004631-45004640 chr19:45004683-45004692 chr19:45003804-45003812 chr19:45004582-45004591
26	TAF1	chr19:45004096-45004978	HepG2	liver:	n/a	n/a
27	CTCF	chr19:45004682-45004920	MCF-7	breast:	n/a	n/a
28	NRF1	chr19:45003977-45004931	GM12878	blood:	n/a	chr19:45004277-45004288
29	SIX5	chr19:45004329-45004874	GM12878	blood:	n/a	chr19:45004614-45004623 chr19:45004616-45004625 chr19:45004612-45004626
30	MAFK	chr19:45004362-45004895	K562	blood:	n/a	n/a
31	RAD21	chr19:45004168-45005004	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr19:45003925-45005115	MCF-7	breast:	n/a	n/a
33	POLR2A	chr19:45003939-45004994	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr19:45004091-45005001	H1-hESC	embryonic stem cell:	n/a	n/a
35	TAL1	chr19:45004209-45004876	K562	blood:	n/a	n/a
36	CHD1	chr19:45004050-45004920	GM12878	blood:	n/a	n/a
37	POLR2A	chr19:45004132-45004850	HepG2	liver:	n/a	n/a
38	YY1	chr19:45003854-45005076	A549	lung:	n/a	chr19:45004729-45004743
39	POLR2A	chr19:45003944-45005038	HL-60	blood:	n/a	n/a
40	JUN	chr19:45003199-45005060	K562	blood:	n/a	chr19:45004841-45004850
41	PAX5	chr19:45004204-45004994	GM12878	blood:	n/a	n/a
42	PML	chr19:45003900-45005180	GM12878	blood:	n/a	n/a
43	BHLHE40	chr19:45004479-45004933	GM12878	blood:	n/a	n/a
44	ELF1	chr19:45004163-45004995	HepG2	liver:	n/a	chr19:45004580-45004591 chr19:45004580-45004591 chr19:45004788-45004800 chr19:45004724-45004736 chr19:45004581-45004590
45	UBTF	chr19:45004164-45004949	K562	blood:	n/a	n/a
46	ATF3	chr19:45004564-45005019	GM12878	blood:	n/a	chr19:45004839-45004852 chr19:45004840-45004851 chr19:45004839-45004852 chr19:45004841-45004849 chr19:45004842-45004849 chr19:45004830-45004850 chr19:45004838-45004853
47	STAT5A	chr19:45004011-45004748	GM12878	blood:	n/a	chr19:45004618-45004632 chr19:45004621-45004629 chr19:45004605-45004629
48	POLR2A	chr19:45003966-45005017	PBDE	blood:	n/a	n/a
49	POLR2A	chr19:45004142-45004892	U87	brain:	n/a	n/a
50	FOS	chr19:45004671-45004760	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45004740-45004790	SK-N-SH	brain:	n/a
2	chr19:45004740-45004790	BE2_C	brain:	n/a
3	chr19:45004740-45004790	AoSMC	blood vessel:	n/a
4	chr19:45004740-45004790	HRCEpiC	kidney:	n/a
5	chr19:45004740-45004790	SKMC	muscle:	n/a
6	chr19:45004740-45004790	AG10803	skin:	n/a
7	chr19:45004740-45004790	AG09319	gingival:	n/a
8	chr19:45004740-45004790	Hepatocyte	liver:	n/a
9	chr19:45004740-45004790	GM12878	blood:	n/a
10	chr19:45004740-45004790	K562	blood:	n/a
11	chr19:45004740-45004790	NB4	blood:	n/a
12	chr19:45004740-45004790	A549	lung:	n/a
13	chr19:45004740-45004790	HMEC	breast:	n/a
14	chr19:45004740-45004790	HCT-116	colon:	n/a
15	chr19:45004740-45004790	SAEC	small airway:	n/a
16	chr19:45004740-45004790	HCF	heart:	n/a
17	chr19:45004740-45004790	AG04449	skin:	fetal
18	chr19:45004740-45004790	HEK293	kidney:	embryo
19	chr19:45004740-45004790	HCPEpiC	choroid plexus:	n/a
20	chr19:45004740-45004790	HCM	heart:	n/a
21	chr19:45004740-45004790	GM12891	blood:	n/a
22	chr19:45004740-45004790	SK-N-SH_RA	brain:	n/a
23	chr19:45004740-45004790	HRPEpiC	eye:	n/a
24	chr19:45004740-45004790	SK-N-MC	brain:	n/a
25	chr19:45004740-45004790	RPTEC	kidney:	n/a
26	chr19:45004740-45004790	GM06990	blood:	n/a
27	chr19:45004740-45004790	MCF-7	breast:	n/a
28	chr19:45004740-45004790	AG04450	lung:	fetal
29	chr19:45004740-45004790	HNPCEpiC	eye:	n/a
30	chr19:45004740-45004790	NT2-D1	testis:	n/a
31	chr19:45004740-45004790	CMK	blood:	n/a
32	chr19:45004740-45004790	ProgFib	skin:	n/a
33	chr19:45004740-45004790	NHBE	bronchial:	n/a
34	chr19:45004740-45004790	Hela-S3	cervix:	n/a
35	chr19:45004740-45004790	LNCaP	prostate:	n/a
36	chr19:45004740-45004790	GM12892	blood:	n/a
37	chr19:45004740-45004790	NH-A	brain:	n/a
38	chr19:45004740-45004790	NHDF-neo	bronchial:	n/a
39	chr19:45004740-45004790	IMR90	lung:	fetal
40	chr19:45004740-45004790	PANC-1	pancreas:	n/a
41	chr19:45004740-45004790	T-47D	breast:	n/a
42	chr19:45004740-45004790	BJ	skin:	n/a
43	chr19:45004740-45004790	HUVEC	blood vessel:	n/a
44	chr19:45004740-45004790	Caco-2	colon:	n/a
45	chr19:45004740-45004790	HRE	kidney:	n/a
46	chr19:45004740-45004790	PFSK-1	brain:	n/a
47	chr19:45004740-45004790	HAEpiC	amniotic membrane:	n/a
48	chr19:45004740-45004790	Jurkat	blood:	n/a
49	chr19:45004740-45004790	GM19239	blood:	n/a
50	chr19:45004740-45004790	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44669130..44670714-chr19:45003024..45005915,2	MCF-7	breast:
2	chr10:5855209..5855820-chr19:45004202..45004956,2	Hela-S3	cervix:
3	chr19:44716557..44719060-chr19:45004270..45005814,2	MCF-7	breast:
4	chr19:45004690..45006229-chr19:45018241..45020833,2	MCF-7	breast:
5	chr19:44711494..44713254-chr19:45003869..45006588,2	MCF-7	breast:
6	chr1:112297823..112298473-chr19:45003987..45004814,2	Hela-S3	cervix:

Variant related genes	Relation type
ZNF180	TF binding region
ZNF180	CpG island
ENSG00000057608	Chromatin interaction
ENSG00000197852	Chromatin interaction
ENSG00000064703	Chromatin interaction
ENSG00000131115	Chromatin interaction
ENSG00000167380	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1434577	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr19:45003000-45004800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:45003000-45005400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr19:45003000-45005600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr19:45003200-45005400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:45003400-45005600	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:45003400-45005600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr19:45003400-45005600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:45003400-45005600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:45003600-45005000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:45003600-45005000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:45003600-45005000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:45003600-45005200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr19:45003600-45005200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:45003600-45005200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:45003600-45005200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:45003600-45005200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:45003600-45005200	Active TSS	Fetal Kidney	kidney
18	chr19:45003600-45005200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr19:45003600-45005400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:45003600-45005400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:45003800-45005000	Active TSS	Aorta	Aorta
22	chr19:45003800-45005200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:45003800-45005200	Active TSS	Muscle Satellite Cultured Cells	--
24	chr19:45003800-45005200	Active TSS	HSMM	muscle
25	chr19:45003800-45005600	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr19:45004000-45004800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:45004000-45005000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:45004000-45005000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr19:45004000-45005000	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr19:45004000-45005200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:45004000-45005200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:45004000-45005200	Active TSS	Primary T cells from cord blood	blood
33	chr19:45004000-45005200	Active TSS	Brain Angular Gyrus	brain
34	chr19:45004000-45005200	Active TSS	Colonic Mucosa	Colon
35	chr19:45004000-45005200	Active TSS	Fetal Lung	lung
36	chr19:45004000-45005200	Active TSS	Ovary	ovary
37	chr19:45004000-45005200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr19:45004000-45005200	Active TSS	Thymus	Thymus
39	chr19:45004000-45005200	Active TSS	GM12878-XiMat	blood
40	chr19:45004000-45005200	Active TSS	Hela-S3	cervix
41	chr19:45004000-45005200	Active TSS	HSMMtube	muscle
42	chr19:45004000-45005200	Active TSS	NH-A	brain
43	chr19:45004000-45005200	Active TSS	NHLF	lung
44	chr19:45004000-45005400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:45004000-45005400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:45004000-45005400	Active TSS	Brain Hippocampus Middle	brain
47	chr19:45004000-45005400	Active TSS	Brain Substantia Nigra	brain
48	chr19:45004000-45005400	Active TSS	Colon Smooth Muscle	Colon
49	chr19:45004000-45005400	Active TSS	Fetal Brain Female	brain
50	chr19:45004000-45005400	Active TSS	Fetal Intestine Large	intestine

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