Variant report

Variant	rs73532145
Chromosome Location	chr19:19625272-19625273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:19625010-19625383	GM12878	blood:	n/a	n/a
2	E2F6	chr19:19625222-19625412	K562	blood:	n/a	n/a
3	POLR2A	chr19:19625255-19626410	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:19624825-19625473	HUVEC	blood vessel:	n/a	n/a
5	MAX	chr19:19625064-19625720	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr19:19624892-19625571	HUVEC	blood vessel:	n/a	n/a
7	MYC	chr19:19625225-19625391	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr19:19624956-19625629	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr19:19624797-19625355	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:19625264-19625314	GM12891	blood:	n/a
2	chr19:19625264-19625314	U87	brain:	n/a
3	chr19:19625264-19625314	NH-A	brain:	n/a
4	chr19:19625264-19625314	ECC-1	luminal epithelium:	n/a
5	chr19:19625264-19625314	A549	lung:	n/a
6	chr19:19625264-19625314	H1-hESC	embryonic stem cell:	embryo
7	chr19:19625264-19625314	AG09319	gingival:	n/a
8	chr19:19625264-19625314	HL-60	blood:	n/a
9	chr19:19625264-19625314	HPAEpiC	pulmonary alveolar:	n/a
10	chr19:19625264-19625314	HMEC	breast:	n/a
11	chr19:19625264-19625314	BE2_C	brain:	n/a
12	chr19:19625264-19625314	LNCaP	prostate:	n/a
13	chr19:19625264-19625314	GM12892	blood:	n/a
14	chr19:19625264-19625314	HRPEpiC	eye:	n/a
15	chr19:19625264-19625314	HCM	heart:	n/a
16	chr19:19625264-19625314	Caco-2	colon:	n/a
17	chr19:19625264-19625314	GM19239	blood:	n/a
18	chr19:19625264-19625314	AG10803	skin:	n/a
19	chr19:19625264-19625314	HCPEpiC	choroid plexus:	n/a
20	chr19:19625264-19625314	K562	blood:	n/a
21	chr19:19625264-19625314	GM06990	blood:	n/a
22	chr19:19625264-19625314	SK-N-MC	brain:	n/a
23	chr19:19625264-19625314	MCF10A-Er-Src	breast:	n/a
24	chr19:19625264-19625314	HEK293	kidney:	embryo
25	chr19:19625264-19625314	HepG2	liver:	n/a
26	chr19:19625264-19625314	HEEpiC	esophagus:	n/a
27	chr19:19625264-19625314	SKMC	muscle:	n/a
28	chr19:19625264-19625314	NB4	blood:	n/a
29	chr19:19625264-19625314	HNPCEpiC	eye:	n/a
30	chr19:19625264-19625314	AG04449	skin:	fetal
31	chr19:19625264-19625314	HCF	heart:	n/a
32	chr19:19625264-19625314	PFSK-1	brain:	n/a
33	chr19:19625264-19625314	SAEC	small airway:	n/a
34	chr19:19625264-19625314	ovcar-3	ovarian:	n/a
35	chr19:19625264-19625314	T-47D	breast:	n/a
36	chr19:19625264-19625314	PrEC	prostate:	n/a
37	chr19:19625264-19625314	NT2-D1	testis:	n/a
38	chr19:19625264-19625314	PANC-1	pancreas:	n/a
39	chr19:19625264-19625314	Jurkat	blood:	n/a
40	chr19:19625264-19625314	HUVEC	blood vessel:	n/a
41	chr19:19625264-19625314	NHBE	bronchial:	n/a
42	chr19:19625264-19625314	IMR90	lung:	fetal
43	chr19:19625264-19625314	NHDF-neo	bronchial:	n/a
44	chr19:19625264-19625314	SK-N-SH_RA	brain:	n/a
45	chr19:19625264-19625314	AoSMC	blood vessel:	n/a
46	chr19:19625264-19625314	Hepatocyte	liver:	n/a
47	chr19:19625264-19625314	AG09309	skin:	n/a
48	chr19:19625264-19625314	HRE	kidney:	n/a
49	chr19:19625264-19625314	CMK	blood:	n/a
50	chr19:19625264-19625314	ProgFib	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19623259..19625867-chr19:19772617..19774685,2	MCF-7	breast:
2	chr19:19429648..19431452-chr19:19623394..19625742,2	MCF-7	breast:
3	chr19:19430154..19433018-chr19:19625258..19627975,2	K562	blood:
4	chr19:19622555..19628571-chr19:19737113..19740295,6	MCF-7	breast:

No data

Variant related genes	Relation type
YJEFN3	TF binding region
NDUFA13	TF binding region
ENSG00000258674	TF binding region
NDUFA13	CpG island
YJEFN3	CpG island
ENSG00000258674	CpG island
ENSG00000064547	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000105705	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11878997	1.00[AMR][1000 genomes]
rs11879483	1.00[AMR][1000 genomes]
rs28808149	1.00[AMR][1000 genomes]
rs56786913	1.00[AMR][1000 genomes]
rs57321153	1.00[AMR][1000 genomes]
rs58179637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58210809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59432787	1.00[AMR][1000 genomes]
rs60542032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60635681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61418834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61687899	1.00[AMR][1000 genomes]
rs7247854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73524674	1.00[AMR][1000 genomes]
rs73524684	1.00[AMR][1000 genomes]
rs73528412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530412	1.00[AMR][1000 genomes]
rs73530428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73530433	1.00[AMR][1000 genomes]
rs73532115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532149	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532158	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537224	0.93[AFR][1000 genomes]
rs73537243	0.85[AFR][1000 genomes]
rs73539469	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19613600-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:19615600-19626400	Weak transcription	Aorta	Aorta
3	chr19:19615800-19626000	Weak transcription	Hela-S3	cervix
4	chr19:19615800-19626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:19616000-19626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:19616200-19626200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:19616400-19626200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:19616600-19626200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:19616600-19626200	Weak transcription	GM12878-XiMat	blood
10	chr19:19616800-19626200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:19617000-19625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:19617200-19625400	Weak transcription	Colonic Mucosa	Colon
13	chr19:19617400-19625800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:19617800-19626000	Weak transcription	HepG2	liver
15	chr19:19618000-19626400	Weak transcription	HUVEC	blood vessel
16	chr19:19618200-19626200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:19618200-19626200	Weak transcription	Small Intestine	intestine
18	chr19:19618400-19626000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:19618600-19626200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:19618600-19626400	Weak transcription	NHDF-Ad	bronchial
21	chr19:19618800-19626200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr19:19618800-19626200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:19618800-19626200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr19:19618800-19626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:19618800-19626400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr19:19618800-19626400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:19619000-19626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:19619000-19626400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:19619200-19626200	Weak transcription	Brain Substantia Nigra	brain
30	chr19:19619200-19626200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr19:19619200-19626200	Weak transcription	A549	lung
32	chr19:19619200-19626400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:19619200-19626400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr19:19619400-19625600	Weak transcription	Primary T cells from cord blood	blood
35	chr19:19619400-19625800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr19:19619400-19625800	Weak transcription	Dnd41	blood
37	chr19:19619400-19626000	Weak transcription	Liver	Liver
38	chr19:19619400-19626200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:19619400-19626200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:19619400-19626200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19619400-19626200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr19:19619400-19626200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:19619400-19626200	Weak transcription	HSMMtube	muscle
44	chr19:19619600-19625400	Weak transcription	HSMM	muscle
45	chr19:19619800-19626200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:19621600-19626400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr19:19621800-19626200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr19:19623400-19626200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:19624400-19626200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr19:19624600-19625800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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