Variant report

Variant	rs546874407
Chromosome Location	chr19:53104666-53104667
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	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	MAX	chr19:53104309-53105104	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
5	ZEB1	chr19:53104366-53104688	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:53104320-53104844	MCF-7	breast:	n/a	n/a
7	EGR1	chr19:53104324-53104688	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104499-53104509
8	IRF1	chr19:53104320-53104735	K562	blood:	n/a	chr19:53104339-53104348 chr19:53104428-53104442 chr19:53104495-53104509
9	SPI1	chr19:53104353-53104912	GM12891	blood:	n/a	n/a
10	JUN	chr19:53104272-53104818	K562	blood:	n/a	chr19:53104343-53104350 chr19:53104755-53104764
11	HEY1	chr19:53104207-53104740	K562	blood:	n/a	n/a
12	RELA	chr19:53104250-53105077	GM15510	blood:	n/a	n/a
13	NRF1	chr19:53104251-53105202	SK-N-SH	brain:	n/a	chr19:53104499-53104508
14	MAZ	chr19:53103779-53105120	GM12878	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
15	MXI1	chr19:53103720-53105408	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr19:53103762-53105129	K562	blood:	n/a	n/a
17	SIN3AK20	chr19:53104279-53104667	K562	blood:	n/a	n/a
18	POLR2A	chr19:53104207-53104810	GM18951	blood:	n/a	n/a
19	JUND	chr19:53104240-53104918	K562	blood:	n/a	chr19:53104343-53104350 chr19:53104755-53104764 chr19:53104877-53104886
20	TAF1	chr19:53104374-53104785	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:53104183-53104852	ECC-1	luminal epithelium:	n/a	n/a
22	ELF1	chr19:53104240-53104788	K562	blood:	n/a	chr19:53104425-53104437 chr19:53104481-53104490 chr19:53104432-53104444 chr19:53104480-53104493
23	POLR2A	chr19:53104263-53104733	HCT-116	colon:	n/a	n/a
24	PML	chr19:53104351-53104785	K562	blood:	n/a	n/a
25	POLR2A	chr19:53103946-53104735	HepG2	liver:	n/a	n/a
26	TBL1XR1	chr19:53104322-53104774	K562	blood:	n/a	n/a
27	POLR2A	chr19:53104213-53104808	GM12892	blood:	n/a	n/a
28	TBL1XR1	chr19:53104269-53104919	GM12878	blood:	n/a	n/a
29	MAX	chr19:53104236-53104932	NB4	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
30	POLR2A	chr19:53103911-53104782	HepG2	liver:	n/a	n/a
31	CHD1	chr19:53104493-53105133	GM12878	blood:	n/a	chr19:53104872-53104882
32	POU2F2	chr19:53103917-53104833	GM12878	blood:	n/a	chr19:53104500-53104512 chr19:53104284-53104297
33	POLR2A	chr19:53104262-53104748	GM12878	blood:	n/a	n/a
34	SPI1	chr19:53104335-53104904	HL-60	blood:	n/a	n/a
35	RAD21	chr19:53104039-53105448	IMR90	lung:	n/a	chr19:53104432-53104444 chr19:53105075-53105088
36	SIN3AK20	chr19:53104211-53104702	SK-N-SH	brain:	n/a	n/a
37	UBTF	chr19:53104370-53105263	K562	blood:	n/a	n/a
38	RCOR1	chr19:53104191-53104822	GM12878	blood:	n/a	n/a
39	GABPA	chr19:53104165-53104863	MCF-7	breast:	n/a	chr19:53104499-53104508
40	STAT1	chr19:53104221-53104691	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:53104270-53104680	HepG2	liver:	n/a	n/a
42	RELA	chr19:53104247-53104858	GM19099	blood:	n/a	n/a
43	POLR2A	chr19:53103825-53105098	GM12878	blood:	n/a	n/a
44	CTCF	chr19:53104038-53104719	GM12878	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
45	CHD2	chr19:53104297-53104823	Hela-S3	cervix:	n/a	chr19:53104469-53104479
46	CTCF	chr19:53104261-53104840	K562	blood:	n/a	chr19:53104432-53104450 chr19:53104434-53104447
47	POLR2A	chr19:53104284-53104869	Raji	blood:	n/a	n/a
48	POLR2A	chr19:53104329-53104784	HCT-116	colon:	n/a	n/a
49	MAX	chr19:53104274-53105171	ECC-1	luminal epithelium:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
50	SP1	chr19:53104191-53104734	GM12878	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

No.	Distal block	Cell Line	Cell type
1	chr19:53098815..53100632-chr19:53103081..53105260,2	K562	blood:
2	chr19:52771721..52774334-chr19:53104602..53106334,2	MCF-7	breast:
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	chr19:53104394..53106484-chr19:53154672..53157186,2	K562	blood:
8	chr19:53100919..53102551-chr19:53104466..53106179,2	MCF-7	breast:
9	chr10:79800834..79801581-chr19:53103963..53104926,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000269825	Chromatin interaction
ENSG00000268970	Chromatin interaction
ENSG00000198482	Chromatin interaction
ENSG00000123870	Chromatin interaction
ENSG00000196214	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	chr19:53103600-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:53103600-53105000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr19:53103600-53105000	Active TSS	Colonic Mucosa	Colon
6	chr19:53103600-53105200	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr19:53103800-53104800	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr19:53103800-53104800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:53103800-53104800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:53103800-53104800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:53103800-53104800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:53103800-53104800	Active TSS	Stomach Smooth Muscle	stomach
15	chr19:53103800-53105000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr19:53103800-53105000	Active TSS	Muscle Satellite Cultured Cells	--
17	chr19:53103800-53105000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:53103800-53105000	Active TSS	Esophagus	oesophagus
19	chr19:53103800-53105000	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr19:53103800-53105000	Active TSS	Right Ventricle	heart
21	chr19:53103800-53105200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr19:53103800-53105200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr19:53103800-53105200	Active TSS	Aorta	Aorta
24	chr19:53103800-53105400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr19:53103800-53105400	Active TSS	Right Atrium	heart
26	chr19:53103800-53105400	Active TSS	Hela-S3	cervix
27	chr19:53103800-53105400	Active TSS	K562	blood
28	chr19:53103800-53105400	Active TSS	NHDF-Ad	bronchial
29	chr19:53103800-53105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:53103800-53105600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr19:53103800-53105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr19:53103800-53105600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:53103800-53105600	Active TSS	Fetal Kidney	kidney
34	chr19:53103800-53105600	Active TSS	GM12878-XiMat	blood
35	chr19:53104000-53104800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:53104000-53105000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr19:53104000-53105000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:53104000-53105000	Active TSS	Primary T cells from cord blood	blood
39	chr19:53104000-53105000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr19:53104000-53105000	Active TSS	Brain Cingulate Gyrus	brain
41	chr19:53104000-53105000	Active TSS	Fetal Heart	heart
42	chr19:53104000-53105000	Active TSS	Placenta Amnion	Placenta Amnion
43	chr19:53104000-53105000	Active TSS	Osteobl	bone
44	chr19:53104000-53105200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr19:53104000-53105200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:53104000-53105200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr19:53104000-53105200	Active TSS	Brain Angular Gyrus	brain
48	chr19:53104000-53105200	Active TSS	Brain Substantia Nigra	brain
49	chr19:53104000-53105200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr19:53104000-53105400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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