Variant report

Variant	rs574718288
Chromosome Location	chr19:42788498-42788499
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	HDAC2	chr19:42788496-42788647	K562	blood:	n/a	n/a
2	SIN3A	chr19:42788267-42788536	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr19:42787459-42788555	MCF10A-Er-Src	breast:	n/a	chr19:42788533-42788543
4	MAX	chr19:42787134-42789178	A549	lung:	n/a	chr19:42788533-42788543
5	TBL1XR1	chr19:42788423-42788579	K562	blood:	n/a	n/a
6	RCOR1	chr19:42788161-42788553	K562	blood:	n/a	n/a
7	BHLHE40	chr19:42788293-42788691	HepG2	liver:	n/a	n/a
8	HCFC1	chr19:42787409-42788751	Hela-S3	cervix:	n/a	n/a
9	HA-E2F1	chr19:42787490-42788776	Hela-S3	cervix:	n/a	chr19:42787781-42787791 chr19:42788748-42788757
10	USF1	chr19:42788361-42788669	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr19:42788454-42788592	SK-N-SH_RA	brain:	n/a	n/a
12	TAF1	chr19:42788151-42788509	K562	blood:	n/a	n/a
13	E2F4	chr19:42787382-42789003	K562	blood:	n/a	chr19:42787781-42787791 chr19:42788794-42788803 chr19:42788748-42788757
14	YY1	chr19:42787742-42788572	K562	blood:	n/a	chr19:42788536-42788550
15	MAZ	chr19:42783745-42790703	IMR90	lung:	n/a	chr19:42790440-42790449 chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
16	POLR2A	chr19:42787311-42788642	K562	blood:	n/a	n/a
17	HDAC2	chr19:42788161-42789008	HepG2	liver:	n/a	chr19:42788460-42788469
18	YY1	chr19:42788478-42788642	K562	blood:	n/a	chr19:42788536-42788550
19	POLR2A	chr19:42787373-42788582	PFSK-1	brain:	n/a	n/a
20	MAX	chr19:42783361-42789666	A549	lung:	n/a	chr19:42784941-42784951 chr19:42786707-42786717 chr19:42786161-42786171 chr19:42788533-42788543 chr19:42786706-42786717
21	E2F6	chr19:42787376-42788714	K562	blood:	n/a	chr19:42787781-42787791
22	E2F6	chr19:42788176-42788949	K562	blood:	n/a	chr19:42788794-42788803 chr19:42788748-42788757
23	POLR2A	chr19:42788036-42788581	MCF-7	breast:	n/a	n/a
24	ELF1	chr19:42787642-42788673	GM12878	blood:	n/a	n/a
25	MAX	chr19:42788172-42788629	K562	blood:	n/a	chr19:42788533-42788543
26	MAX	chr19:42788171-42788668	ECC-1	luminal epithelium:	n/a	chr19:42788533-42788543
27	POLR2A	chr19:42787166-42788685	H1-neurons	neurons:	n/a	n/a
28	CREB1	chr19:42787487-42788999	A549	lung:	n/a	n/a
29	MAZ	chr19:42787536-42789039	HepG2	liver:	n/a	chr19:42788533-42788543
30	MXI1	chr19:42787296-42789030	HepG2	liver:	n/a	n/a
31	POLR2A	chr19:42788154-42788556	GM12892	blood:	n/a	n/a
32	FOXP2	chr19:42787252-42788670	PFSK-1	brain:	n/a	n/a
33	SP1	chr19:42788347-42788662	GM12878	blood:	n/a	chr19:42788529-42788543 chr19:42788538-42788550 chr19:42788519-42788533 chr19:42788538-42788550 chr19:42788535-42788549 chr19:42788532-42788544
34	MAX	chr19:42788164-42788693	K562	blood:	n/a	chr19:42788533-42788543
35	POLR2A	chr19:42787263-42788941	GM18951	blood:	n/a	n/a
36	POLR2A	chr19:42788141-42789539	GM12892	blood:	n/a	n/a
37	POLR2A	chr19:42787459-42788692	GM10847	blood:	n/a	n/a
38	EGR1	chr19:42788322-42788650	GM12878	blood:	n/a	chr19:42788449-42788463 chr19:42788536-42788546 chr19:42788460-42788469 chr19:42788534-42788547 chr19:42788535-42788549 chr19:42788533-42788548
39	IRF1	chr19:42788417-42788677	K562	blood:	n/a	chr19:42788538-42788552
40	CEBPD	chr19:42788398-42788678	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:42787318-42788566	MCF-7	breast:	n/a	n/a
42	YY1	chr19:42788167-42788681	GM12892	blood:	n/a	chr19:42788536-42788550
43	CCNT2	chr19:42787382-42789025	K562	blood:	n/a	n/a
44	HEY1	chr19:42787455-42788660	HepG2	liver:	n/a	chr19:42787894-42787909
45	ZBTB7A	chr19:42788185-42789010	K562	blood:	n/a	n/a
46	POLR2A	chr19:42787083-42790049	K562	blood:	n/a	n/a
47	ZBTB7A	chr19:42788452-42789028	ECC-1	luminal epithelium:	n/a	n/a
48	HCFC1	chr19:42788226-42788640	K562	blood:	n/a	n/a
49	NRF1	chr19:42788342-42788633	H1-hESC	embryonic stem cell:	n/a	chr19:42788460-42788469 chr19:42788459-42788470 chr19:42788483-42788494
50	POLR2A	chr19:42787201-42788565	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
2	chr19:42786310..42789274-chr8:144099903..144101921,2	MCF-7	breast:
3	chr19:42788053..42790658-chr19:42828603..42831088,2	MCF-7	breast:
4	chr19:42786293..42789026-chr19:42903312..42906811,3	MCF-7	breast:
5	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
6	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
7	chr12:49524528..49525157-chr19:42787936..42788663,3	Hela-S3	cervix:
8	chr19:42788208..42790691-chr19:42829217..42832174,3	K562	blood:
9	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
10	chr19:42579405..42581484-chr19:42787067..42789919,2	K562	blood:

Variant related genes	Relation type
CIC	TF binding region
ENSG00000213904	Chromatin interaction
ENSG00000204957	Chromatin interaction
ENSG00000268643	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000258017	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000160932	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
8	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
9	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
10	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
11	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
13	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
14	esv11470	chr19:42786911-42789522	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv3373500	chr19:42786937-42789485	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
16	esv3399835	chr19:42787212-42789685	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
17	esv1800204	chr19:42787848-42788951	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 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	chr19:42787400-42789400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:42787600-42789200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:42787600-42789200	Active TSS	Aorta	Aorta
4	chr19:42787600-42789400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:42787600-42789400	Active TSS	Ovary	ovary
6	chr19:42787800-42788800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:42787800-42788800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr19:42787800-42788800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:42787800-42788800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:42787800-42788800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:42787800-42788800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:42787800-42788800	Active TSS	Primary B cells from cord blood	blood
13	chr19:42787800-42788800	Active TSS	Primary hematopoietic stem cells	blood
14	chr19:42787800-42788800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr19:42787800-42788800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:42787800-42788800	Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr19:42787800-42788800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr19:42787800-42788800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:42787800-42788800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:42787800-42788800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:42787800-42788800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr19:42787800-42788800	Active TSS	Colonic Mucosa	Colon
23	chr19:42787800-42788800	Active TSS	Esophagus	oesophagus
24	chr19:42787800-42788800	Weak transcription	Fetal Heart	heart
25	chr19:42787800-42788800	Weak transcription	Placenta	Placenta
26	chr19:42787800-42788800	Active TSS	Rectal Smooth Muscle	rectum
27	chr19:42787800-42788800	Weak transcription	Stomach Mucosa	stomach
28	chr19:42787800-42788800	Active TSS	A549	lung
29	chr19:42787800-42788800	Active TSS	HepG2	liver
30	chr19:42787800-42789000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:42787800-42789000	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr19:42787800-42789000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr19:42787800-42789000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:42787800-42789000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:42787800-42789000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:42787800-42789000	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr19:42787800-42789000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:42787800-42789000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:42787800-42789000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:42787800-42789000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:42787800-42789000	Active TSS	Brain Angular Gyrus	brain
42	chr19:42787800-42789000	Active TSS	Brain Anterior Caudate	brain
43	chr19:42787800-42789000	Active TSS	Brain Cingulate Gyrus	brain
44	chr19:42787800-42789000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr19:42787800-42789000	Active TSS	Duodenum Mucosa	Duodenum
46	chr19:42787800-42789000	Active TSS	Gastric	stomach
47	chr19:42787800-42789000	Active TSS	Left Ventricle	heart
48	chr19:42787800-42789000	Active TSS	Pancreas	Pancrea
49	chr19:42787800-42789000	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:42787800-42789000	Active TSS	Rectal Mucosa Donor 31	rectum

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