Variant report

Variant	rs553102753
Chromosome Location	chr19:53104370-53104371
allele	C/G
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	MYC	chr19:53104340-53104987	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
2	MAX	chr19:53104245-53105199	MCF-7	breast:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
3	FOSL2	chr19:53103887-53104722	HepG2	liver:	n/a	chr19:53104343-53104350
4	ZNF263	chr19:53103937-53104383	HEK293-T-REx	kidney:	n/a	chr19:53104085-53104094
5	MAX	chr19:53104309-53105104	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
6	RAD21	chr19:53104224-53104567	K562	blood:	n/a	chr19:53104432-53104444
7	ZEB1	chr19:53104366-53104688	GM12878	blood:	n/a	n/a
8	POLR2A	chr19:53104320-53104844	MCF-7	breast:	n/a	n/a
9	EGR1	chr19:53104324-53104688	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104499-53104509
10	IRF1	chr19:53104320-53104735	K562	blood:	n/a	chr19:53104339-53104348 chr19:53104428-53104442 chr19:53104495-53104509
11	SRF	chr19:53104355-53104561	GM12878	blood:	n/a	chr19:53104431-53104441 chr19:53104498-53104508
12	SPI1	chr19:53104353-53104912	GM12891	blood:	n/a	n/a
13	CTCF	chr19:53104360-53104510	HEK293	kidney:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
14	JUN	chr19:53104272-53104818	K562	blood:	n/a	chr19:53104343-53104350 chr19:53104755-53104764
15	CTCF	chr19:53104360-53104510	GM12869	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
16	CTCF	chr19:53104340-53104490	HMEC	breast:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
17	HEY1	chr19:53104207-53104740	K562	blood:	n/a	n/a
18	RELA	chr19:53104250-53105077	GM15510	blood:	n/a	n/a
19	SP1	chr19:53104199-53104639	K562	blood:	n/a	chr19:53104498-53104512 chr19:53104431-53104440 chr19:53104499-53104508 chr19:53104498-53104508 chr19:53104518-53104530 chr19:53104497-53104509 chr19:53104498-53104507 chr19:53104420-53104429 chr19:53104519-53104528 chr19:53104497-53104509 chr19:53104430-53104442 chr19:53104498-53104508 chr19:53104520-53104529 chr19:53104431-53104445 chr19:53104432-53104441 chr19:53104431-53104441 chr19:53104430-53104442 chr19:53104519-53104528 chr19:53104518-53104530
20	NRF1	chr19:53104251-53105202	SK-N-SH	brain:	n/a	chr19:53104499-53104508
21	MAZ	chr19:53103779-53105120	GM12878	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
22	CTCF	chr19:53104360-53104510	GM12866	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
23	CTCF	chr19:53104340-53104490	AG09319	gingival:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
24	RAD21	chr19:53104310-53104601	SK-N-SH_RA	brain:	n/a	chr19:53104432-53104444
25	FOS	chr19:53104246-53104580	MCF10A-Er-Src	breast:	n/a	chr19:53104343-53104350
26	HNF4A	chr19:53104023-53104652	HepG2	liver:	n/a	chr19:53104161-53104174 chr19:53104281-53104296 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175 chr19:53104162-53104174 chr19:53104160-53104175
27	MXI1	chr19:53103720-53105408	SK-N-SH	brain:	n/a	n/a
28	CTCF	chr19:53104340-53104490	NB4	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
29	FOS	chr19:53104210-53104461	MCF10A-Er-Src	breast:	n/a	chr19:53104343-53104350
30	CTCF	chr19:53104340-53104490	Hela-S3	cervix:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
31	CTCF	chr19:53104320-53104470	HFF	foreskin:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
32	POLR2A	chr19:53103762-53105129	K562	blood:	n/a	n/a
33	SIN3AK20	chr19:53104279-53104667	K562	blood:	n/a	n/a
34	CTCF	chr19:53104304-53104595	Spleen_OC	spleen:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
35	TBP	chr19:53104222-53104600	HepG2	liver:	n/a	n/a
36	POLR2A	chr19:53104207-53104810	GM18951	blood:	n/a	n/a
37	CTCF	chr19:53104351-53104536	GM19240	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
38	CTCF	chr19:53104363-53104496	GM20000	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
39	CTCF	chr19:53104320-53104470	HCM	heart:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
40	JUND	chr19:53104240-53104918	K562	blood:	n/a	chr19:53104343-53104350 chr19:53104755-53104764 chr19:53104877-53104886
41	POLR2A	chr19:53104183-53104852	ECC-1	luminal epithelium:	n/a	n/a
42	CTCF	chr19:53104220-53104370	GM12870	blood:	n/a	n/a
43	ELF1	chr19:53104240-53104788	K562	blood:	n/a	chr19:53104425-53104437 chr19:53104481-53104490 chr19:53104432-53104444 chr19:53104480-53104493
44	POLR2A	chr19:53104263-53104733	HCT-116	colon:	n/a	n/a
45	HNF4G	chr19:53104228-53104581	HepG2	liver:	n/a	chr19:53104281-53104296
46	PML	chr19:53104351-53104785	K562	blood:	n/a	n/a
47	CTCF	chr19:53104340-53104490	GM06990	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
48	CTCF	chr19:53104355-53104539	K562	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
49	CTCF	chr19:53104301-53104573	Lung_OC	lung:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
50	POLR2A	chr19:53103946-53104735	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:53098815..53100632-chr19:53103081..53105260,2	K562	blood:
2	chr19:53098492..53100632-chr19:53102754..53104581,2	K562	blood:
3	chr19:53030382..53031999-chr19:53102744..53106373,4	K562	blood:
4	chr19:53100001..53102540-chr19:53104328..53106583,2	MCF-7	breast:
5	chr19:53103475..53106137-chr19:53106571..53108256,2	K562	blood:
6	chr19:53091479..53093203-chr19:53104357..53107211,2	MCF-7	breast:
7	chr10:79800834..79801581-chr19:53103963..53104926,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000123870	Chromatin interaction
ENSG00000268970	Chromatin interaction
ENSG00000198482	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	nsv1057296	chr19:52950339-53396986	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1065584	chr19:53043126-53127459	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv833874	chr19:53058014-53257875	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv458743	chr19:53065661-53114267	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv580027	chr19:53065661-53114267	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv912304	chr19:53071155-53114267	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv963070	chr19:53091108-53105222	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv912305	chr19:53092465-53349850	Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv912306	chr19:53092465-53400760	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv912307	chr19:53092465-53433054	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv912308	chr19:53092465-53436337	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv912309	chr19:53092465-53440653	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
13	nsv912310	chr19:53092465-53451291	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
14	nsv828616	chr19:53095216-53137823	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv912311	chr19:53103875-53212361	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv912312	chr19:53103875-53296371	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv912313	chr19:53103875-53436337	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53103400-53105200	Active TSS	HSMMtube	muscle
2	chr19:53103400-53105600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr19:53103600-53104600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:53103600-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:53103600-53105000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:53103600-53105000	Active TSS	Colonic Mucosa	Colon
7	chr19:53103600-53105200	Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr19:53103800-53104400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr19:53103800-53104800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:53103800-53104800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:53103800-53104800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:53103800-53104800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:53103800-53104800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:53103800-53104800	Active TSS	Stomach Smooth Muscle	stomach
17	chr19:53103800-53105000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr19:53103800-53105000	Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:53103800-53105000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:53103800-53105000	Active TSS	Esophagus	oesophagus
21	chr19:53103800-53105000	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr19:53103800-53105000	Active TSS	Right Ventricle	heart
23	chr19:53103800-53105200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr19:53103800-53105200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:53103800-53105200	Active TSS	Aorta	Aorta
26	chr19:53103800-53105400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr19:53103800-53105400	Active TSS	Right Atrium	heart
28	chr19:53103800-53105400	Active TSS	Hela-S3	cervix
29	chr19:53103800-53105400	Active TSS	K562	blood
30	chr19:53103800-53105400	Active TSS	NHDF-Ad	bronchial
31	chr19:53103800-53105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr19:53103800-53105600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:53103800-53105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr19:53103800-53105600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:53103800-53105600	Active TSS	Fetal Kidney	kidney
36	chr19:53103800-53105600	Active TSS	GM12878-XiMat	blood
37	chr19:53104000-53104400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr19:53104000-53104400	Active TSS	Brain Germinal Matrix	brain
39	chr19:53104000-53104600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr19:53104000-53104600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:53104000-53104600	Weak transcription	Stomach Mucosa	stomach
42	chr19:53104000-53104600	Active TSS	NHEK	skin
43	chr19:53104000-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:53104000-53105000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr19:53104000-53105000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:53104000-53105000	Active TSS	Primary T cells from cord blood	blood
47	chr19:53104000-53105000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr19:53104000-53105000	Active TSS	Brain Cingulate Gyrus	brain
49	chr19:53104000-53105000	Active TSS	Fetal Heart	heart
50	chr19:53104000-53105000	Active TSS	Placenta Amnion	Placenta Amnion

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