Variant report

Variant	rs10426292
Chromosome Location	chr19:38715224-38715225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:242)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:242 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:38714812-38715441	K562	blood:	n/a	n/a
2	EGR1	chr19:38714816-38715319	GM12878	blood:	n/a	chr19:38715274-38715296 chr19:38715278-38715293 chr19:38715095-38715109
3	MAX	chr19:38714713-38715517	K562	blood:	n/a	chr19:38715072-38715082
4	POLR2A	chr19:38714465-38715431	HepG2	liver:	n/a	n/a
5	BHLHE40	chr19:38714796-38715554	K562	blood:	n/a	n/a
6	USF1	chr19:38715196-38715745	H1-hESC	embryonic stem cell:	n/a	chr19:38715470-38715481
7	MYC	chr19:38714888-38715291	MCF10A-Er-Src	breast:	n/a	chr19:38715072-38715082
8	NFIC	chr19:38714928-38715331	GM12878	blood:	n/a	n/a
9	BHLHE40	chr19:38714780-38715334	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr19:38714774-38715576	A549	lung:	n/a	n/a
11	ZNF143	chr19:38714743-38715340	Hela-S3	cervix:	n/a	n/a
12	MAX	chr19:38714780-38715499	HepG2	liver:	n/a	chr19:38715072-38715082
13	BRCA1	chr19:38714879-38715450	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr19:38715223-38715504	HepG2	liver:	n/a	n/a
15	MYC	chr19:38714979-38715232	GM12878	blood:	n/a	chr19:38715072-38715082
16	PML	chr19:38714522-38715376	GM12878	blood:	n/a	chr19:38715227-38715235
17	ETS1	chr19:38714572-38715589	A549	lung:	n/a	chr19:38714715-38714729 chr19:38714941-38714954
18	SIN3AK20	chr19:38714629-38715394	K562	blood:	n/a	n/a
19	EP300	chr19:38715011-38715273	GM12878	blood:	n/a	n/a
20	RCOR1	chr19:38714670-38715572	K562	blood:	n/a	n/a
21	MAZ	chr19:38713957-38715654	IMR90	lung:	n/a	chr19:38714543-38714552
22	SIN3AK20	chr19:38714643-38715638	A549	lung:	n/a	n/a
23	HDAC2	chr19:38714700-38715557	H1-hESC	embryonic stem cell:	n/a	n/a
24	TCF12	chr19:38714506-38715761	A549	lung:	n/a	n/a
25	USF1	chr19:38715215-38715755	ECC-1	luminal epithelium:	n/a	chr19:38715470-38715481
26	POLR2A	chr19:38714657-38715230	ECC-1	luminal epithelium:	n/a	n/a
27	POU2F2	chr19:38714938-38715297	GM12891	blood:	n/a	chr19:38715283-38715295
28	RCOR1	chr19:38714741-38715549	K562	blood:	n/a	n/a
29	MAX	chr19:38714561-38715671	MCF-7	breast:	n/a	chr19:38715072-38715082
30	POLR2A	chr19:38714597-38715370	Raji	blood:	n/a	n/a
31	RUNX3	chr19:38714680-38715369	GM12878	blood:	n/a	n/a
32	EP300	chr19:38714972-38715520	K562	blood:	n/a	n/a
33	USF1	chr19:38714687-38715807	HCT-116	colon:	n/a	chr19:38715470-38715481
34	CTCF	chr19:38714984-38715497	GM19239	blood:	n/a	chr19:38715328-38715337
35	TCF12	chr19:38714903-38715428	A549	lung:	n/a	n/a
36	TBP	chr19:38714670-38715397	K562	blood:	n/a	n/a
37	HDAC2	chr19:38714679-38715275	HepG2	liver:	n/a	n/a
38	JUND	chr19:38714831-38715487	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr19:38714528-38715504	A549	lung:	n/a	n/a
40	USF1	chr19:38714709-38715655	A549	lung:	n/a	chr19:38715470-38715481
41	SP1	chr19:38714608-38715455	H1-hESC	embryonic stem cell:	n/a	chr19:38714670-38714682 chr19:38714997-38715008 chr19:38715368-38715377 chr19:38714671-38714681 chr19:38714672-38714681 chr19:38714671-38714680 chr19:38714670-38714682 chr19:38714727-38714741 chr19:38714671-38714681 chr19:38715367-38715379
42	FOXM1	chr19:38714863-38715329	GM12878	blood:	n/a	n/a
43	ZBTB7A	chr19:38714496-38715494	K562	blood:	n/a	chr19:38714962-38714970 chr19:38714963-38714971
44	MAZ	chr19:38714637-38715554	K562	blood:	n/a	n/a
45	REST	chr19:38714385-38715510	H1-neurons	neurons:	n/a	n/a
46	ZBTB7A	chr19:38714393-38715539	ECC-1	luminal epithelium:	n/a	chr19:38714962-38714970 chr19:38714963-38714971
47	POLR2A	chr19:38714481-38715404	H1-neurons	neurons:	n/a	n/a
48	IRF4	chr19:38714821-38715330	GM12878	blood:	n/a	n/a
49	HDAC2	chr19:38714644-38715397	K562	blood:	n/a	n/a
50	SMC3	chr19:38715057-38715395	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:38715198-38715248	GM12892	blood:	n/a
2	chr19:38715198-38715248	MCF-7	breast:	n/a
3	chr19:38715198-38715248	PFSK-1	brain:	n/a
4	chr19:38715198-38715248	SK-N-SH	brain:	n/a
5	chr19:38715198-38715248	PrEC	prostate:	n/a
6	chr19:38715198-38715248	HRPEpiC	eye:	n/a
7	chr19:38715198-38715248	SKMC	muscle:	n/a
8	chr19:38715198-38715248	MCF10A-Er-Src	breast:	n/a
9	chr19:38715198-38715248	H1-hESC	embryonic stem cell:	embryo
10	chr19:38715198-38715248	AG09309	skin:	n/a
11	chr19:38715198-38715248	RPTEC	kidney:	n/a
12	chr19:38715198-38715248	HAEpiC	amniotic membrane:	n/a
13	chr19:38715198-38715248	A549	lung:	n/a
14	chr19:38715198-38715248	HNPCEpiC	eye:	n/a
15	chr19:38715198-38715248	SK-N-SH_RA	brain:	n/a
16	chr19:38715198-38715248	GM12878	blood:	n/a
17	chr19:38715198-38715248	AG09319	gingival:	n/a
18	chr19:38715198-38715248	ovcar-3	ovarian:	n/a
19	chr19:38715198-38715248	HCPEpiC	choroid plexus:	n/a
20	chr19:38715198-38715248	NHBE	bronchial:	n/a
21	chr19:38715198-38715248	SAEC	small airway:	n/a
22	chr19:38715198-38715248	HEK293	kidney:	embryo
23	chr19:38715198-38715248	HMEC	breast:	n/a
24	chr19:38715198-38715248	HRCEpiC	kidney:	n/a
25	chr19:38715198-38715248	Jurkat	blood:	n/a
26	chr19:38715198-38715248	BE2_C	brain:	n/a
27	chr19:38715198-38715248	HIPEpiC	eye:	n/a
28	chr19:38715198-38715248	BJ	skin:	n/a
29	chr19:38715198-38715248	PANC-1	pancreas:	n/a
30	chr19:38715198-38715248	NT2-D1	testis:	n/a
31	chr19:38715198-38715248	HepG2	liver:	n/a
32	chr19:38715198-38715248	U87	brain:	n/a
33	chr19:38715198-38715248	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:38715198-38715248	HCT-116	colon:	n/a
35	chr19:38715198-38715248	NB4	blood:	n/a
36	chr19:38715198-38715248	Caco-2	colon:	n/a
37	chr19:38715198-38715248	LNCaP	prostate:	n/a
38	chr19:38715198-38715248	Hela-S3	cervix:	n/a
39	chr19:38715198-38715248	ECC-1	luminal epithelium:	n/a
40	chr19:38715198-38715248	AG10803	skin:	n/a
41	chr19:38715198-38715248	HUVEC	blood vessel:	n/a
42	chr19:38715198-38715248	HRE	kidney:	n/a
43	chr19:38715198-38715248	AoSMC	blood vessel:	n/a
44	chr19:38715198-38715248	AG04450	lung:	fetal
45	chr19:38715198-38715248	HCF	heart:	n/a
46	chr19:38715198-38715248	NHDF-neo	bronchial:	n/a
47	chr19:38715198-38715248	IMR90	lung:	fetal
48	chr19:38715198-38715248	NH-A	brain:	n/a
49	chr19:38715198-38715248	CMK	blood:	n/a
50	chr19:38715198-38715248	HCM	heart:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38713590..38716581-chr19:38810078..38812613,2	MCF-7	breast:
2	chr19:38711690..38716111-chr19:38864242..38867673,4	MCF-7	breast:
3	chr19:38715204..38718579-chr19:38826351..38828588,3	K562	blood:
4	chr19:38713237..38716742-chr19:38865084..38866886,4	MCF-7	breast:
5	chr19:38714374..38716736-chr19:38753965..38756092,2	MCF-7	breast:
6	chr19:38713729..38715404-chr19:38717530..38720413,2	K562	blood:
7	chr19:38709001..38712807-chr19:38713403..38716348,3	K562	blood:
8	chr19:38708386..38711062-chr19:38712686..38715377,3	K562	blood:
9	chr19:38712277..38715341-chr19:38824721..38827828,3	K562	blood:
10	chr19:38715033..38716998-chr19:38741502..38743244,2	K562	blood:
11	chr19:38701793..38708887-chr19:38709877..38716652,10	K562	blood:
12	chr19:38604586..38606112-chr19:38715121..38717021,2	K562	blood:
13	chr19:38389111..38389618-chr19:38715124..38715884,2	MCF-7	breast:
14	chr19:38673271..38675565-chr19:38714868..38716918,2	K562	blood:

No data

Variant related genes	Relation type
DPF1	TF binding region
DPF1	CpG island
ENSG00000269653	Chromatin interaction
ENSG00000099341	Chromatin interaction
ENSG00000167642	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000099337	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10401829	1.00[AMR][1000 genomes]
rs10401835	1.00[AMR][1000 genomes]
rs10402883	1.00[AMR][1000 genomes]
rs10403809	1.00[AMR][1000 genomes]
rs10405381	1.00[AMR][1000 genomes]
rs10406765	1.00[AMR][1000 genomes]
rs10407169	1.00[AMR][1000 genomes]
rs10407230	1.00[AMR][1000 genomes]
rs10408479	1.00[AMR][1000 genomes]
rs10408909	1.00[AMR][1000 genomes]
rs10412116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413138	1.00[AMR][1000 genomes]
rs10413363	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10413551	1.00[AMR][1000 genomes]
rs10413596	1.00[AMR][1000 genomes]
rs10414916	1.00[AMR][1000 genomes]
rs10414927	1.00[AMR][1000 genomes]
rs10415809	1.00[AMR][1000 genomes]
rs10421241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423429	1.00[AMR][1000 genomes]
rs10424104	1.00[AMR][1000 genomes]
rs10424818	1.00[AMR][1000 genomes]
rs10425099	1.00[AMR][1000 genomes]
rs10425571	1.00[AMR][1000 genomes]
rs10426458	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28376501	1.00[AMR][1000 genomes]
rs28380555	1.00[AMR][1000 genomes]
rs28421402	1.00[AMR][1000 genomes]
rs28627637	1.00[AMR][1000 genomes]
rs28637743	1.00[AMR][1000 genomes]
rs28649033	1.00[AMR][1000 genomes]
rs28660098	1.00[AMR][1000 genomes]
rs28700884	1.00[AMR][1000 genomes]
rs56134404	1.00[AMR][1000 genomes]
rs56216562	1.00[AMR][1000 genomes]
rs58260561	1.00[AMR][1000 genomes]
rs59571293	1.00[AMR][1000 genomes]
rs61456950	1.00[AMR][1000 genomes]
rs71354969	1.00[AMR][1000 genomes]
rs73630898	1.00[AMR][1000 genomes]
rs73632925	1.00[AMR][1000 genomes]
rs73930357	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	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38713600-38715600	Active TSS	Brain Anterior Caudate	brain
2	chr19:38713600-38715600	Flanking Active TSS	Brain Germinal Matrix	brain
3	chr19:38713800-38715400	Active TSS	Muscle Satellite Cultured Cells	--
4	chr19:38714000-38715400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:38714000-38715400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:38714000-38715400	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:38714200-38715400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:38714200-38715400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:38714200-38715400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr19:38714200-38715400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:38714200-38715400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:38714200-38715400	Active TSS	HSMM	muscle
13	chr19:38714200-38715600	Active TSS	Hela-S3	cervix
14	chr19:38714400-38715400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:38714400-38715400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr19:38714400-38715400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:38714400-38715400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:38714400-38715400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr19:38714400-38715400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr19:38714400-38715400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr19:38714400-38715400	Bivalent Enhancer	Fetal Thymus	thymus
22	chr19:38714400-38715400	Active TSS	A549	lung
23	chr19:38714400-38715600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:38714400-38715600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr19:38714600-38715400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:38714600-38715400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:38714600-38715400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
28	chr19:38714600-38715400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr19:38714600-38715400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr19:38714600-38715400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr19:38714600-38715400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr19:38714600-38715400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr19:38714600-38715400	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr19:38714600-38715400	Active TSS	HUVEC	blood vessel
35	chr19:38714600-38715400	Active TSS	NHLF	lung
36	chr19:38714600-38715600	Active TSS	HepG2	liver
37	chr19:38714600-38715600	Active TSS	NHEK	skin
38	chr19:38714800-38715400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr19:38714800-38715400	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr19:38715000-38715400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:38715000-38715400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:38715000-38715400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:38715000-38715400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:38715000-38715400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:38715000-38715400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr19:38715000-38715400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
47	chr19:38715000-38715400	Flanking Bivalent TSS/Enh	Primary T killer naive cells fromperipheralblood	blood
48	chr19:38715000-38715400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:38715000-38715400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr19:38715000-38715400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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