Variant report

Variant	rs551873917
Chromosome Location	chr19:45251832-45251833
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	MXI1	chr19:45251810-45252216	GM12878	blood:	n/a	n/a
2	MAZ	chr19:45250301-45252241	GM12878	blood:	n/a	chr19:45250878-45250887
3	HNF4G	chr19:45251704-45252296	HepG2	liver:	n/a	n/a
4	CEBPD	chr19:45251692-45251978	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:45251591-45252402	MCF-7	breast:	n/a	n/a
6	MAZ	chr19:45250381-45252178	Hela-S3	cervix:	n/a	chr19:45250878-45250887
7	EP300	chr19:45251394-45252074	SK-N-SH_RA	brain:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
8	ZBTB7A	chr19:45251582-45252457	K562	blood:	n/a	n/a
9	TCF12	chr19:45251697-45252198	GM12878	blood:	n/a	n/a
10	CEBPD	chr19:45251567-45252309	HepG2	liver:	n/a	n/a
11	POLR2A	chr19:45250230-45252136	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr19:45251370-45252138	K562	blood:	n/a	n/a
13	MAX	chr19:45251472-45252071	GM12878	blood:	n/a	n/a
14	TAF1	chr19:45251780-45252209	GM12878	blood:	n/a	n/a
15	EP300	chr19:45250387-45252152	SK-N-SH	brain:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
16	GATA3	chr19:45250389-45252188	A549	lung:	n/a	n/a
17	SP1	chr19:45249857-45252171	A549	lung:	n/a	chr19:45250751-45250760 chr19:45250749-45250760 chr19:45250674-45250684 chr19:45250750-45250760 chr19:45250750-45250764 chr19:45250749-45250761 chr19:45250793-45250802 chr19:45250674-45250683 chr19:45250850-45250864 chr19:45250750-45250759 chr19:45250673-45250685 chr19:45250674-45250683 chr19:45250674-45250688 chr19:45250750-45250759 chr19:45250817-45250828 chr19:45250674-45250684 chr19:45250675-45250684 chr19:45250801-45250812 chr19:45250673-45250685 chr19:45250749-45250761 chr19:45250750-45250760 chr19:45250115-45250125
18	EGR1	chr19:45251560-45252088	GM12878	blood:	n/a	n/a
19	RCOR1	chr19:45249356-45252341	IMR90	lung:	n/a	n/a
20	POLR2A	chr19:45250479-45252237	K562	blood:	n/a	n/a
21	NFIC	chr19:45250494-45252125	SK-N-SH	brain:	n/a	n/a
22	EP300	chr19:45250659-45252182	GM12878	blood:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
23	ESR1	chr19:45251678-45252008	ECC-1	luminal epithelium:	n/a	n/a
24	HNF4A	chr19:45251721-45252326	HepG2	liver:	n/a	n/a
25	JUND	chr19:45250219-45252555	A549	lung:	n/a	chr19:45250880-45250887 chr19:45252543-45252552 chr19:45250877-45250888 chr19:45252545-45252554 chr19:45250716-45250724 chr19:45250875-45250886 chr19:45252546-45252555 chr19:45252542-45252551 chr19:45250879-45250887 chr19:45250845-45250854 chr19:45250879-45250887 chr19:45252544-45252553
26	NR2F2	chr19:45251315-45252145	MCF-7	breast:	n/a	n/a
27	ZBTB7A	chr19:45250531-45252587	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr19:45250446-45252250	GM19193	blood:	n/a	n/a
29	TCF7L2	chr19:45251245-45252285	HCT-116	colon:	n/a	n/a
30	POLR2A	chr19:45250596-45252356	HUVEC	blood vessel:	n/a	n/a
31	EGR1	chr19:45251401-45251968	K562	blood:	n/a	n/a
32	POLR2A	chr19:45251708-45252286	HUVEC	blood vessel:	n/a	n/a
33	CEBPB	chr19:45251465-45251929	Hela-S3	cervix:	n/a	n/a
34	EP300	chr19:45250419-45252259	ECC-1	luminal epithelium:	n/a	chr19:45251827-45251843 chr19:45251823-45251839
35	RXRA	chr19:45251748-45252394	HepG2	liver:	n/a	n/a
36	PBX3	chr19:45249921-45252169	A549	lung:	n/a	n/a
37	ZBTB7A	chr19:45251703-45251933	HepG2	liver:	n/a	n/a
38	MAX	chr19:45250500-45251851	ECC-1	luminal epithelium:	n/a	chr19:45250878-45250887
39	MAX	chr19:45249618-45252538	A549	lung:	n/a	chr19:45250878-45250887
40	MAZ	chr19:45250201-45252293	HepG2	liver:	n/a	chr19:45250878-45250887
41	HEY1	chr19:45251368-45252371	HepG2	liver:	n/a	n/a
42	MAX	chr19:45249987-45252141	A549	lung:	n/a	chr19:45250878-45250887
43	RXRA	chr19:45250329-45252114	SK-N-SH	brain:	n/a	n/a
44	YY1	chr19:45251704-45252362	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr19:45251769-45252113	A549	lung:	n/a	n/a
46	PBX3	chr19:45250381-45252182	A549	lung:	n/a	n/a
47	ESR1	chr19:45251584-45251958	T-47D	breast:	n/a	n/a
48	NR3C1	chr19:45251659-45251943	A549	lung:	n/a	n/a
49	YY1	chr19:45251701-45252378	GM12892	blood:	n/a	n/a
50	E2F6	chr19:45251702-45251859	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45164861..45166953-chr19:45250378..45253353,2	MCF-7	breast:
2	chr19:45150946..45153817-chr19:45251773..45254167,2	MCF-7	breast:
3	chr19:45251797..45254336-chr19:45349633..45353327,3	K562	blood:
4	chr19:45173518..45176542-chr19:45249418..45252711,3	MCF-7	breast:
5	chr19:45250646..45253385-chr19:45348787..45352398,5	MCF-7	breast:
6	chr19:45192326..45193138-chr19:45251815..45252367,2	MCF-7	breast:
7	chr19:45180699..45183749-chr19:45249057..45252629,3	MCF-7	breast:
8	chr19:45249129..45253567-chr19:45309146..45313529,6	MCF-7	breast:
9	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
10	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
11	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
12	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000073008	Chromatin interaction
ENSG00000187244	Chromatin interaction
ENSG00000267348	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000252200	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912116	chr19:45146103-45298069	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv833841	chr19:45208486-45308043	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
3	esv3335183	chr19:45225161-45253316	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv3324918	chr19:45250737-45253285	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3447789	chr19:45251012-45253160	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45243800-45252000	Weak transcription	Gastric	stomach
2	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:45250400-45252600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr19:45250400-45252600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:45250400-45252600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr19:45250400-45252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr19:45250400-45252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:45250400-45252800	Active TSS	Psoas Muscle	Psoas
13	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr19:45250600-45252400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:45250600-45252400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:45250600-45252600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:45250600-45252600	Active TSS	Colon Smooth Muscle	Colon
19	chr19:45250600-45252600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr19:45250600-45252600	Active TSS	Rectal Smooth Muscle	rectum
21	chr19:45250600-45252800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:45250600-45252800	Active TSS	Duodenum Mucosa	Duodenum
23	chr19:45250600-45253000	Active TSS	Right Ventricle	heart
24	chr19:45250600-45253000	Active TSS	HSMM	muscle
25	chr19:45250600-45253200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:45250600-45253200	Active TSS	Liver	Liver
27	chr19:45250600-45253200	Active TSS	Fetal Kidney	kidney
28	chr19:45250600-45253200	Active TSS	Left Ventricle	heart
29	chr19:45250600-45253200	Active TSS	Ovary	ovary
30	chr19:45250600-45253200	Active TSS	Right Atrium	heart
31	chr19:45250600-45253200	Active TSS	NHLF	lung
32	chr19:45250600-45253400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:45250600-45253400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:45250800-45252400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr19:45250800-45252400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr19:45250800-45252600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:45250800-45253000	Active TSS	A549	lung
38	chr19:45250800-45253200	Active TSS	Brain Angular Gyrus	brain
39	chr19:45250800-45253200	Active TSS	Esophagus	oesophagus
40	chr19:45251000-45252800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:45251000-45253000	Active TSS	Aorta	Aorta
42	chr19:45251000-45253000	Active TSS	Spleen	Spleen
43	chr19:45251000-45253200	Active TSS	Lung	lung
44	chr19:45251000-45253400	Active TSS	Small Intestine	intestine
45	chr19:45251200-45252400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr19:45251200-45252600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:45251200-45253200	Active TSS	Pancreas	Pancrea
48	chr19:45251400-45252000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:45251400-45252000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:45251400-45252000	Bivalent/Poised TSS	Thymus	Thymus

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