Variant report

Variant	rs373183384
Chromosome Location	chr19:45252291-45252292
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	HNF4G	chr19:45251704-45252296	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:45251911-45252476	A549	lung:	n/a	n/a
3	POLR2A	chr19:45251591-45252402	MCF-7	breast:	n/a	n/a
4	ZBTB7A	chr19:45251582-45252457	K562	blood:	n/a	n/a
5	CEBPD	chr19:45251567-45252309	HepG2	liver:	n/a	n/a
6	RCOR1	chr19:45249356-45252341	IMR90	lung:	n/a	n/a
7	MAX	chr19:45252289-45252332	K562	blood:	n/a	n/a
8	POLR2A	chr19:45251936-45252352	HepG2	liver:	n/a	n/a
9	HNF4A	chr19:45251721-45252326	HepG2	liver:	n/a	n/a
10	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
11	ZBTB7A	chr19:45250531-45252587	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr19:45250596-45252356	HUVEC	blood vessel:	n/a	n/a
13	RXRA	chr19:45251748-45252394	HepG2	liver:	n/a	n/a
14	MAX	chr19:45249618-45252538	A549	lung:	n/a	chr19:45250878-45250887
15	MAZ	chr19:45250201-45252293	HepG2	liver:	n/a	chr19:45250878-45250887
16	HEY1	chr19:45251368-45252371	HepG2	liver:	n/a	n/a
17	YY1	chr19:45251704-45252362	GM12878	blood:	n/a	n/a
18	HNF4A	chr19:45251888-45252310	HepG2	liver:	n/a	n/a
19	CTCF	chr19:45252180-45252330	HMEC	breast:	n/a	n/a
20	YY1	chr19:45251701-45252378	GM12892	blood:	n/a	n/a
21	MAX	chr19:45251872-45252394	K562	blood:	n/a	n/a
22	POLR2A	chr19:45251701-45252458	A549	lung:	n/a	n/a
23	CHD1	chr19:45251912-45252484	GM12878	blood:	n/a	n/a
24	HEY1	chr19:45251813-45252331	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:45251622-45252373	A549	lung:	n/a	n/a
26	CHD1	chr19:45250110-45253686	IMR90	lung:	n/a	chr19:45251838-45251848
27	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
28	EBF1	chr19:45250136-45252561	GM12878	blood:	n/a	chr19:45250505-45250516 chr19:45250756-45250765 chr19:45252399-45252408
29	PAX5	chr19:45251624-45252365	GM12892	blood:	n/a	n/a
30	ZBTB7A	chr19:45251480-45252454	K562	blood:	n/a	n/a
31	GABPA	chr19:45251917-45252302	K562	blood:	n/a	n/a
32	TAF1	chr19:45251722-45252298	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:45251877-45253521	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr19:45250624-45252436	GM12892	blood:	n/a	n/a
35	POLR2A	chr19:45249872-45253681	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:45252236-45253600	U87	brain:	n/a	n/a
37	TFAP2C	chr19:45250383-45252694	Hela-S3	cervix:	n/a	n/a
38	PML	chr19:45251327-45252458	GM12878	blood:	n/a	chr19:45252393-45252401
39	RELA	chr19:45250246-45252444	GM12891	blood:	n/a	chr19:45250772-45250781 chr19:45250772-45250781
40	UBTF	chr19:45251851-45252391	K562	blood:	n/a	n/a
41	POLR2A	chr19:45251711-45252402	GM12878	blood:	n/a	n/a
42	PAX5	chr19:45251543-45252311	GM12878	blood:	n/a	n/a
43	TCF12	chr19:45247727-45253774	A549	lung:	n/a	chr19:45248399-45248407 chr19:45249956-45249966
44	ZBTB7A	chr19:45251366-45252546	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr19:45250698-45252463	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:45252259-45253459	U87	brain:	n/a	n/a
47	POLR2A	chr19:45250543-45252376	GM19099	blood:	n/a	n/a
48	MAZ	chr19:45249597-45253664	IMR90	lung:	n/a	chr19:45252537-45252546 chr19:45250878-45250887 chr19:45252540-45252550
49	POLR2A	chr19:45252230-45253606	U87	brain:	n/a	n/a
50	POLR2A	chr19:45252276-45252740	Hela-S3	cervix:	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	chr17:79936078..79936868-chr19:45251918..45252553,2	Hela-S3	cervix:
13	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
14	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
15	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
16	chr16:75682151..75683053-chr19:45252133..45253014,2	Hela-S3	cervix:

Variant related genes	Relation type
BCL3	TF binding region
ENSG00000267348	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000166848	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000252200	Chromatin interaction
ENSG00000187244	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45249800-45253200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:45250200-45252400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr19:45250200-45252800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr19:45250200-45252800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:45250200-45252800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:45250400-45252600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr19:45250400-45252600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:45250400-45252600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr19:45250400-45252800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:45250400-45252800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:45250400-45252800	Active TSS	Psoas Muscle	Psoas
12	chr19:45250400-45253200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr19:45250400-45254000	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr19:45250600-45252400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr19:45250600-45252400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:45250600-45252600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:45250600-45252600	Active TSS	Colon Smooth Muscle	Colon
18	chr19:45250600-45252600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr19:45250600-45252600	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:45250600-45252800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
21	chr19:45250600-45252800	Active TSS	Duodenum Mucosa	Duodenum
22	chr19:45250600-45253000	Active TSS	Right Ventricle	heart
23	chr19:45250600-45253000	Active TSS	HSMM	muscle
24	chr19:45250600-45253200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:45250600-45253200	Active TSS	Liver	Liver
26	chr19:45250600-45253200	Active TSS	Fetal Kidney	kidney
27	chr19:45250600-45253200	Active TSS	Left Ventricle	heart
28	chr19:45250600-45253200	Active TSS	Ovary	ovary
29	chr19:45250600-45253200	Active TSS	Right Atrium	heart
30	chr19:45250600-45253200	Active TSS	NHLF	lung
31	chr19:45250600-45253400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:45250600-45253400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr19:45250800-45252400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr19:45250800-45252400	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr19:45250800-45252600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:45250800-45253000	Active TSS	A549	lung
37	chr19:45250800-45253200	Active TSS	Brain Angular Gyrus	brain
38	chr19:45250800-45253200	Active TSS	Esophagus	oesophagus
39	chr19:45251000-45252800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:45251000-45253000	Active TSS	Aorta	Aorta
41	chr19:45251000-45253000	Active TSS	Spleen	Spleen
42	chr19:45251000-45253200	Active TSS	Lung	lung
43	chr19:45251000-45253400	Active TSS	Small Intestine	intestine
44	chr19:45251200-45252400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr19:45251200-45252600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:45251200-45253200	Active TSS	Pancreas	Pancrea
47	chr19:45251400-45252400	Active TSS	Brain Cingulate Gyrus	brain
48	chr19:45251400-45252800	Active TSS	Monocytes-CD14+_RO01746	blood
49	chr19:45251600-45252400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:45251600-45252400	Active TSS	Primary B cells from peripheral blood	blood

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