Variant report

Variant	rs554523805
Chromosome Location	chr19:53105016-53105017
allele	A/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	MAX	chr19:53104245-53105199	MCF-7	breast:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
2	MAX	chr19:53104309-53105104	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
3	RELA	chr19:53104250-53105077	GM15510	blood:	n/a	n/a
4	NRF1	chr19:53104251-53105202	SK-N-SH	brain:	n/a	chr19:53104499-53104508
5	MAZ	chr19:53103779-53105120	GM12878	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
6	MXI1	chr19:53103720-53105408	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr19:53103762-53105129	K562	blood:	n/a	n/a
8	CTCF	chr19:53104880-53105030	AG09319	gingival:	n/a	n/a
9	CHD1	chr19:53104493-53105133	GM12878	blood:	n/a	chr19:53104872-53104882
10	RAD21	chr19:53104039-53105448	IMR90	lung:	n/a	chr19:53104432-53104444 chr19:53105075-53105088
11	UBTF	chr19:53104370-53105263	K562	blood:	n/a	n/a
12	POLR2A	chr19:53103825-53105098	GM12878	blood:	n/a	n/a
13	MAX	chr19:53104274-53105171	ECC-1	luminal epithelium:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
14	POLR2A	chr19:53103994-53105025	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:53104833-53105152	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:53104216-53105230	Hela-S3	cervix:	n/a	n/a
17	MTA3	chr19:53104432-53105039	GM12878	blood:	n/a	n/a
18	MAX	chr19:53104740-53105266	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr19:53104170-53105150	SK-N-SH	brain:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
20	E2F6	chr19:53104780-53105288	H1-hESC	embryonic stem cell:	n/a	chr19:53104914-53104925 chr19:53104915-53104927 chr19:53104873-53104885
21	POLR2A	chr19:53103904-53105174	MCF-7	breast:	n/a	n/a
22	MAX	chr19:53104191-53105171	SK-N-SH	brain:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
23	E2F4	chr19:53104248-53105102	MCF10A-Er-Src	breast:	n/a	chr19:53104915-53104927 chr19:53104873-53104885 chr19:53104494-53104504
24	ZNF143	chr19:53104996-53105400	GM12878	blood:	n/a	n/a
25	ELF1	chr19:53104822-53105266	GM12878	blood:	n/a	n/a
26	MAZ	chr19:53103821-53106145	IMR90	lung:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
27	POLR2A	chr19:53104869-53105172	GM12878	blood:	n/a	n/a
28	MAX	chr19:53104358-53105319	ECC-1	luminal epithelium:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
29	MAX	chr19:53104334-53105299	GM12878	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
30	POLR2A	chr19:53103876-53105236	K562	blood:	n/a	n/a
31	E2F6	chr19:53104264-53105290	H1-hESC	embryonic stem cell:	n/a	chr19:53104914-53104925 chr19:53104915-53104927 chr19:53104873-53104885 chr19:53104494-53104504
32	POLR2A	chr19:53104875-53105135	GM12878	blood:	n/a	n/a
33	MAX	chr19:53104334-53105255	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
34	POLR2A	chr19:53104317-53105049	GM12878	blood:	n/a	n/a
35	MXI1	chr19:53104268-53105061	GM12878	blood:	n/a	n/a
36	E2F6	chr19:53104738-53105267	K562	blood:	n/a	chr19:53104914-53104925 chr19:53104915-53104927 chr19:53104873-53104885
37	MAZ	chr19:53104000-53105407	K562	blood:	n/a	chr19:53104498-53104508 chr19:53104431-53104441
38	MXI1	chr19:53103865-53105115	IMR90	lung:	n/a	n/a
39	SIN3A	chr19:53104251-53105105	GM12878	blood:	n/a	chr19:53104436-53104447
40	E2F6	chr19:53104177-53105242	K562	blood:	n/a	chr19:53104914-53104925 chr19:53104915-53104927 chr19:53104873-53104885 chr19:53104494-53104504
41	E2F6	chr19:53104390-53105107	K562	blood:	n/a	chr19:53104914-53104925 chr19:53104915-53104927 chr19:53104873-53104885 chr19:53104494-53104504
42	UBTF	chr19:53104979-53105172	K562	blood:	n/a	n/a
43	POLR2A	chr19:53103912-53105297	K562	blood:	n/a	n/a
44	RCOR1	chr19:53104996-53105441	K562	blood:	n/a	n/a
45	POLR2A	chr19:53103883-53105351	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3A	chr19:53104285-53105072	H1-hESC	embryonic stem cell:	n/a	chr19:53104436-53104447
47	MAX	chr19:53104710-53105310	H1-hESC	embryonic stem cell:	n/a	n/a
48	CBX3	chr19:53104158-53105094	K562	blood:	n/a	n/a
49	HMGN3	chr19:53103986-53105157	K562	blood:	n/a	n/a
50	ZBTB7A	chr19:53104847-53105053	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53104997-53105047	PrEC	prostate:	n/a
2	chr19:53104997-53105047	NT2-D1	testis:	n/a
3	chr19:53104997-53105047	AG09309	skin:	n/a
4	chr19:53104997-53105047	RPTEC	kidney:	n/a
5	chr19:53104997-53105047	HL-60	blood:	n/a
6	chr19:53104997-53105047	HRPEpiC	eye:	n/a
7	chr19:53104997-53105047	HCT-116	colon:	n/a
8	chr19:53104997-53105047	SAEC	small airway:	n/a
9	chr19:53104997-53105047	K562	blood:	n/a
10	chr19:53104997-53105047	HRCEpiC	kidney:	n/a
11	chr19:53104997-53105047	ECC-1	luminal epithelium:	n/a
12	chr19:53104997-53105047	AG09319	gingival:	n/a
13	chr19:53104997-53105047	PANC-1	pancreas:	n/a
14	chr19:53104997-53105047	U87	brain:	n/a
15	chr19:53104997-53105047	HAEpiC	amniotic membrane:	n/a
16	chr19:53104997-53105047	AG04450	lung:	fetal
17	chr19:53104997-53105047	NH-A	brain:	n/a
18	chr19:53104997-53105047	HEK293	kidney:	embryo
19	chr19:53104997-53105047	H1-hESC	embryonic stem cell:	embryo
20	chr19:53104997-53105047	SK-N-SH_RA	brain:	n/a
21	chr19:53104997-53105047	GM12891	blood:	n/a
22	chr19:53104997-53105047	A549	lung:	n/a
23	chr19:53104997-53105047	NB4	blood:	n/a
24	chr19:53104997-53105047	MCF-7	breast:	n/a
25	chr19:53104997-53105047	HNPCEpiC	eye:	n/a
26	chr19:53104997-53105047	HRE	kidney:	n/a
27	chr19:53104997-53105047	CMK	blood:	n/a
28	chr19:53104997-53105047	SKMC	muscle:	n/a
29	chr19:53104997-53105047	T-47D	breast:	n/a
30	chr19:53104997-53105047	NHDF-neo	bronchial:	n/a
31	chr19:53104997-53105047	HCPEpiC	choroid plexus:	n/a
32	chr19:53104997-53105047	BE2_C	brain:	n/a
33	chr19:53104997-53105047	HEEpiC	esophagus:	n/a
34	chr19:53104997-53105047	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:53104997-53105047	GM19239	blood:	n/a
36	chr19:53104997-53105047	HMEC	breast:	n/a
37	chr19:53104997-53105047	MCF10A-Er-Src	breast:	n/a
38	chr19:53104997-53105047	AG04449	skin:	fetal
39	chr19:53104997-53105047	SK-N-SH	brain:	n/a
40	chr19:53104997-53105047	HCF	heart:	n/a
41	chr19:53104997-53105047	HCM	heart:	n/a
42	chr19:53104997-53105047	Caco-2	colon:	n/a
43	chr19:53104997-53105047	AoSMC	blood vessel:	n/a
44	chr19:53104997-53105047	HIPEpiC	eye:	n/a
45	chr19:53104997-53105047	PFSK-1	brain:	n/a
46	chr19:53104997-53105047	SK-N-MC	brain:	n/a
47	chr19:53104997-53105047	BJ	skin:	n/a
48	chr19:53104997-53105047	AG10803	skin:	n/a
49	chr19:53104997-53105047	HUVEC	blood vessel:	n/a
50	chr19:53104997-53105047	GM12892	blood:	n/a

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:

Variant related genes	Relation type
ENSG00000268970	TF binding region
ENSG00000268970	CpG island
ENSG00000123870	Chromatin interaction
ENSG00000268970	Chromatin interaction
ENSG00000269825	Chromatin interaction
ENSG00000196214	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	chr19:53103600-53105200	Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr19:53103600-53105600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:53103600-53105800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:53103800-53105200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr19:53103800-53105200	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr19:53103800-53105200	Active TSS	Aorta	Aorta
9	chr19:53103800-53105400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:53103800-53105400	Active TSS	Right Atrium	heart
11	chr19:53103800-53105400	Active TSS	Hela-S3	cervix
12	chr19:53103800-53105400	Active TSS	K562	blood
13	chr19:53103800-53105400	Active TSS	NHDF-Ad	bronchial
14	chr19:53103800-53105600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:53103800-53105600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr19:53103800-53105600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr19:53103800-53105600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:53103800-53105600	Active TSS	Fetal Kidney	kidney
19	chr19:53103800-53105600	Active TSS	GM12878-XiMat	blood
20	chr19:53104000-53105200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:53104000-53105200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:53104000-53105200	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr19:53104000-53105200	Active TSS	Brain Angular Gyrus	brain
24	chr19:53104000-53105200	Active TSS	Brain Substantia Nigra	brain
25	chr19:53104000-53105200	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:53104000-53105400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:53104000-53105400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:53104000-53105400	Active TSS	Colon Smooth Muscle	Colon
29	chr19:53104000-53105400	Active TSS	Fetal Lung	lung
30	chr19:53104000-53105400	Active TSS	Fetal Stomach	stomach
31	chr19:53104000-53105400	Active TSS	Lung	lung
32	chr19:53104000-53105400	Active TSS	Ovary	ovary
33	chr19:53104000-53105400	Active TSS	HSMM	muscle
34	chr19:53104000-53105400	Active TSS	NHLF	lung
35	chr19:53104000-53105600	Active TSS	Fetal Intestine Large	intestine
36	chr19:53104000-53105600	Active TSS	HepG2	liver
37	chr19:53104000-53105800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr19:53104000-53106000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:53104000-53106000	Active TSS	Fetal Intestine Small	intestine
40	chr19:53104000-53106200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:53104200-53105200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:53104200-53105200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:53104200-53105200	Active TSS	Brain Anterior Caudate	brain
44	chr19:53104200-53105200	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr19:53104200-53105200	Active TSS	Small Intestine	intestine
46	chr19:53104200-53105200	Active TSS	Spleen	Spleen
47	chr19:53104200-53105400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr19:53104200-53105400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:53104200-53105400	Active TSS	Liver	Liver
50	chr19:53104200-53105400	Active TSS	Fetal Brain Female	brain

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