Variant report

Variant	rs73930737
Chromosome Location	chr19:39989420-39989421
allele	A/C
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	EBF1	chr19:39989112-39989712	GM12878	blood:	n/a	chr19:39989510-39989521 chr19:39989510-39989520 chr19:39989511-39989520 chr19:39989509-39989522
2	USF2	chr19:39989102-39989432	GM12878	blood:	n/a	n/a
3	MAX	chr19:39988518-39989427	K562	blood:	n/a	n/a
4	PAX5	chr19:39989281-39989493	GM12892	blood:	n/a	chr19:39989401-39989419 chr19:39989403-39989420
5	MAZ	chr19:39988487-39989544	K562	blood:	n/a	chr19:39988516-39988526
6	ATF3	chr19:39988533-39989443	A549	lung:	n/a	n/a
7	MYC	chr19:39988595-39989445	K562	blood:	n/a	n/a
8	MAX	chr19:39988357-39989705	K562	blood:	n/a	chr19:39988516-39988526
9	TCF12	chr19:39988340-39989543	A549	lung:	n/a	n/a
10	EBF1	chr19:39989129-39989757	GM12878	blood:	n/a	chr19:39989510-39989521 chr19:39989510-39989520 chr19:39989511-39989520 chr19:39989509-39989522
11	MAX	chr19:39988264-39989578	A549	lung:	n/a	chr19:39988516-39988526
12	MXI1	chr19:39988596-39989436	GM12878	blood:	n/a	n/a
13	PAX5	chr19:39989188-39989499	GM12878	blood:	n/a	chr19:39989401-39989419 chr19:39989403-39989420
14	HDAC2	chr19:39989244-39989550	K562	blood:	n/a	n/a
15	MAX	chr19:39988557-39989427	GM12878	blood:	n/a	n/a
16	MAX	chr19:39988353-39989549	A549	lung:	n/a	chr19:39988516-39988526
17	MAX	chr19:39988527-39989526	ECC-1	luminal epithelium:	n/a	n/a
18	RAD21	chr19:39988183-39989448	SK-N-SH	brain:	n/a	chr19:39988657-39988669 chr19:39988652-39988671
19	USF1	chr19:39989122-39989462	K562	blood:	n/a	n/a
20	ZBTB7A	chr19:39989304-39989669	K562	blood:	n/a	chr19:39989536-39989543 chr19:39989432-39989443
21	MAX	chr19:39988379-39989498	H1-hESC	embryonic stem cell:	n/a	chr19:39988516-39988526
22	E2F6	chr19:39988267-39989495	H1-hESC	embryonic stem cell:	n/a	chr19:39988539-39988548
23	EBF1	chr19:39989098-39989766	GM12878	blood:	n/a	chr19:39989510-39989521 chr19:39989510-39989520 chr19:39989511-39989520 chr19:39989509-39989522
24	MAX	chr19:39988470-39989480	MCF-7	breast:	n/a	chr19:39988516-39988526
25	CTCF	chr19:39988296-39989624	A549	lung:	n/a	chr19:39989285-39989298 chr19:39988653-39988674 chr19:39988651-39988669 chr19:39988654-39988667
26	REST	chr19:39988462-39989461	H1-neurons	neurons:	n/a	chr19:39988996-39989016 chr19:39988705-39988718 chr19:39988996-39989016
27	BHLHE40	chr19:39988619-39989426	K562	blood:	n/a	n/a
28	RUNX3	chr19:39989180-39989497	GM12878	blood:	n/a	n/a
29	PAX5	chr19:39989310-39989457	GM12878	blood:	n/a	chr19:39989401-39989419 chr19:39989403-39989420
30	E2F6	chr19:39988480-39989436	K562	blood:	n/a	chr19:39988539-39988548
31	POLR2A	chr19:39988440-39989953	SK-N-MC	brain:	n/a	n/a
32	BACH1	chr19:39988448-39989967	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr19:39988933-39989472	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr19:39988415-39989483	H1-hESC	embryonic stem cell:	n/a	chr19:39988516-39988526
35	PAX5	chr19:39989156-39989478	GM12878	blood:	n/a	chr19:39989401-39989419 chr19:39989403-39989420
36	SIN3AK20	chr19:39988020-39991615	PANC-1	pancreas:	n/a	n/a
37	HDAC2	chr19:39989241-39989556	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAZ	chr19:39989258-39989765	GM12878	blood:	n/a	n/a
39	MAX	chr19:39988443-39989433	K562	blood:	n/a	chr19:39988516-39988526
40	BHLHE40	chr19:39989126-39989616	GM12878	blood:	n/a	chr19:39989576-39989592
41	REST	chr19:39988287-39990378	PANC-1	pancreas:	n/a	chr19:39988437-39988450 chr19:39988996-39989016 chr19:39988705-39988718 chr19:39988996-39989016
42	PAX5	chr19:39989076-39989623	GM12878	blood:	n/a	chr19:39989401-39989419 chr19:39989403-39989420
43	MYC	chr19:39988531-39989431	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39989412-39989462	HCPEpiC	choroid plexus:	n/a
2	chr19:39989412-39989462	PrEC	prostate:	n/a
3	chr19:39989412-39989462	NH-A	brain:	n/a
4	chr19:39989412-39989462	H1-hESC	embryonic stem cell:	embryo
5	chr19:39989412-39989462	AG04449	skin:	fetal
6	chr19:39989412-39989462	AoSMC	blood vessel:	n/a
7	chr19:39989412-39989462	HRPEpiC	eye:	n/a
8	chr19:39989412-39989462	SAEC	small airway:	n/a
9	chr19:39989412-39989462	HRE	kidney:	n/a
10	chr19:39989412-39989462	GM06990	blood:	n/a
11	chr19:39989412-39989462	HIPEpiC	eye:	n/a
12	chr19:39989412-39989462	SK-N-SH_RA	brain:	n/a
13	chr19:39989412-39989462	SK-N-SH	brain:	n/a
14	chr19:39989412-39989462	ovcar-3	ovarian:	n/a
15	chr19:39989412-39989462	IMR90	lung:	fetal
16	chr19:39989412-39989462	ProgFib	skin:	n/a
17	chr19:39989412-39989462	HL-60	blood:	n/a
18	chr19:39989412-39989462	PFSK-1	brain:	n/a
19	chr19:39989412-39989462	Hepatocyte	liver:	n/a
20	chr19:39989412-39989462	HAEpiC	amniotic membrane:	n/a
21	chr19:39989412-39989462	AG09309	skin:	n/a
22	chr19:39989412-39989462	NT2-D1	testis:	n/a
23	chr19:39989412-39989462	HepG2	liver:	n/a
24	chr19:39989412-39989462	HPAEpiC	pulmonary alveolar:	n/a
25	chr19:39989412-39989462	NHBE	bronchial:	n/a
26	chr19:39989412-39989462	NHDF-neo	bronchial:	n/a
27	chr19:39989412-39989462	LNCaP	prostate:	n/a
28	chr19:39989412-39989462	Jurkat	blood:	n/a
29	chr19:39989412-39989462	A549	lung:	n/a
30	chr19:39989412-39989462	K562	blood:	n/a
31	chr19:39989412-39989462	HCM	heart:	n/a
32	chr19:39989412-39989462	HNPCEpiC	eye:	n/a
33	chr19:39989412-39989462	GM12878	blood:	n/a
34	chr19:39989412-39989462	GM19239	blood:	n/a
35	chr19:39989412-39989462	RPTEC	kidney:	n/a
36	chr19:39989412-39989462	HCT-116	colon:	n/a
37	chr19:39989412-39989462	U87	brain:	n/a
38	chr19:39989412-39989462	AG10803	skin:	n/a
39	chr19:39989412-39989462	HUVEC	blood vessel:	n/a
40	chr19:39989412-39989462	BJ	skin:	n/a
41	chr19:39989412-39989462	PANC-1	pancreas:	n/a
42	chr19:39989412-39989462	BE2_C	brain:	n/a
43	chr19:39989412-39989462	AG04450	lung:	fetal
44	chr19:39989412-39989462	AG09319	gingival:	n/a
45	chr19:39989412-39989462	NB4	blood:	n/a
46	chr19:39989412-39989462	SKMC	muscle:	n/a
47	chr19:39989412-39989462	SK-N-MC	brain:	n/a
48	chr19:39989412-39989462	HEEpiC	esophagus:	n/a
49	chr19:39989412-39989462	MCF-7	breast:	n/a
50	chr19:39989412-39989462	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39970388..39973416-chr19:39987093..39991960,6	MCF-7	breast:
2	chr19:39987217..39989716-chr19:40005337..40006880,2	MCF-7	breast:
3	chr19:39982701..39986911-chr19:39987055..39990908,4	MCF-7	breast:
4	chr19:39961435..39964219-chr19:39988508..39990234,2	K562	blood:
5	chr19:39978061..39981122-chr19:39987269..39990771,3	MCF-7	breast:
6	chr19:39971313..39973393-chr19:39989065..39991077,2	MCF-7	breast:
7	chr19:39831059..39833135-chr19:39987962..39989581,2	MCF-7	breast:
8	chr19:39988746..39992361-chr19:40020493..40024366,5	MCF-7	breast:
9	chr19:39902841..39904415-chr19:39988846..39990992,2	K562	blood:
10	chr19:39897603..39899385-chr19:39988618..39990162,2	K562	blood:
11	chr19:39965857..39966750-chr19:39988624..39989570,2	K562	blood:

Variant related genes	Relation type
DLL3	TF binding region
DLL3	CpG island
ENSG00000128016	Chromatin interaction
ENSG00000186838	Chromatin interaction
ENSG00000269246	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000090924	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000179134	Chromatin interaction
ENSG00000130755	Chromatin interaction
ENSG00000105197	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10409266	1.00[AMR][1000 genomes]
rs10410433	1.00[AMR][1000 genomes]
rs10415824	1.00[AMR][1000 genomes]
rs10416483	1.00[AMR][1000 genomes]
rs10416833	1.00[AMR][1000 genomes]
rs10418621	1.00[AMR][1000 genomes]
rs11878949	1.00[AMR][1000 genomes]
rs11881743	1.00[AMR][1000 genomes]
rs11881791	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11882363	1.00[AMR][1000 genomes]
rs13345090	1.00[AMR][1000 genomes]
rs28673032	1.00[AMR][1000 genomes]
rs35805511	1.00[AMR][1000 genomes]
rs35904695	1.00[AMR][1000 genomes]
rs55715307	1.00[AMR][1000 genomes]
rs55977867	0.80[AFR][1000 genomes]
rs56110409	1.00[AMR][1000 genomes]
rs57795340	1.00[AMR][1000 genomes]
rs59673015	1.00[AMR][1000 genomes]
rs59763849	0.84[AFR][1000 genomes]
rs60760924	1.00[AMR][1000 genomes]
rs61201100	1.00[AMR][1000 genomes]
rs73930738	1.00[AMR][1000 genomes]
rs73930740	1.00[AMR][1000 genomes]
rs73930742	1.00[AMR][1000 genomes]
rs73930743	1.00[AMR][1000 genomes]
rs73930744	1.00[AMR][1000 genomes]
rs73930746	1.00[AMR][1000 genomes]
rs73930752	1.00[AMR][1000 genomes]
rs73930764	1.00[AMR][1000 genomes]
rs73930765	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39988400-39990200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:39988400-39990200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:39988400-39990200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:39988400-39990200	Bivalent Enhancer	Placenta	Placenta
5	chr19:39988400-39990200	Enhancers	Spleen	Spleen
6	chr19:39988600-39989600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:39988600-39989800	Bivalent Enhancer	Esophagus	oesophagus
8	chr19:39988600-39989800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
9	chr19:39988600-39989800	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr19:39988600-39990000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:39988600-39990000	Bivalent Enhancer	Left Ventricle	heart
12	chr19:39988600-39990200	Enhancers	Gastric	stomach
13	chr19:39988600-39990800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
14	chr19:39988800-39989600	Enhancers	Right Ventricle	heart
15	chr19:39988800-39989800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:39988800-39989800	Bivalent Enhancer	Ovary	ovary
17	chr19:39988800-39990200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:39988800-39990200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr19:39988800-39990200	Enhancers	Pancreas	Pancrea
20	chr19:39989000-39989600	Bivalent Enhancer	Fetal Heart	heart
21	chr19:39989000-39989600	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr19:39989000-39989600	Bivalent Enhancer	Fetal Stomach	stomach
23	chr19:39989000-39989800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:39989000-39990000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr19:39989000-39990200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:39989000-39990200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr19:39989000-39990200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:39989000-39990200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr19:39989000-39990200	Bivalent Enhancer	Fetal Muscle Leg	muscle
30	chr19:39989000-39990400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:39989000-39990800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:39989000-39990800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr19:39989200-39989600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:39989200-39989600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:39989200-39989600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr19:39989200-39989600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr19:39989200-39989600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
38	chr19:39989200-39989600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:39989200-39989600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
40	chr19:39989200-39989600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr19:39989200-39989600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
42	chr19:39989200-39989600	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr19:39989200-39989600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
44	chr19:39989200-39989600	Bivalent Enhancer	HSMM	muscle
45	chr19:39989200-39989800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr19:39989200-39989800	Active TSS	Fetal Brain Male	brain
47	chr19:39989200-39989800	Bivalent Enhancer	Fetal Lung	lung
48	chr19:39989200-39989800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
49	chr19:39989200-39989800	Bivalent Enhancer	HUVEC	blood vessel
50	chr19:39989200-39989800	Bivalent Enhancer	NH-A	brain

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