Variant report

Variant	rs377290691
Chromosome Location	chr19:45252352-45252353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45251911-45252476	A549	lung:	n/a	n/a
2	POLR2A	chr19:45251591-45252402	MCF-7	breast:	n/a	n/a
3	ZBTB7A	chr19:45251582-45252457	K562	blood:	n/a	n/a
4	POLR2A	chr19:45251936-45252352	HepG2	liver:	n/a	n/a
5	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
6	ZBTB7A	chr19:45250531-45252587	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr19:45250596-45252356	HUVEC	blood vessel:	n/a	n/a
8	RXRA	chr19:45251748-45252394	HepG2	liver:	n/a	n/a
9	MAX	chr19:45249618-45252538	A549	lung:	n/a	chr19:45250878-45250887
10	HEY1	chr19:45251368-45252371	HepG2	liver:	n/a	n/a
11	YY1	chr19:45251704-45252362	GM12878	blood:	n/a	n/a
12	YY1	chr19:45251701-45252378	GM12892	blood:	n/a	n/a
13	MAX	chr19:45251872-45252394	K562	blood:	n/a	n/a
14	POLR2A	chr19:45251701-45252458	A549	lung:	n/a	n/a
15	CHD1	chr19:45251912-45252484	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:45251622-45252373	A549	lung:	n/a	n/a
17	CHD1	chr19:45250110-45253686	IMR90	lung:	n/a	chr19:45251838-45251848
18	BCL3	chr19:45248078-45253687	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
19	EBF1	chr19:45250136-45252561	GM12878	blood:	n/a	chr19:45250505-45250516 chr19:45250756-45250765 chr19:45252399-45252408
20	PAX5	chr19:45251624-45252365	GM12892	blood:	n/a	n/a
21	ZBTB7A	chr19:45251480-45252454	K562	blood:	n/a	n/a
22	POLR2A	chr19:45251877-45253521	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:45250624-45252436	GM12892	blood:	n/a	n/a
24	POLR2A	chr19:45249872-45253681	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr19:45252236-45253600	U87	brain:	n/a	n/a
26	TFAP2C	chr19:45250383-45252694	Hela-S3	cervix:	n/a	n/a
27	PML	chr19:45251327-45252458	GM12878	blood:	n/a	chr19:45252393-45252401
28	RELA	chr19:45250246-45252444	GM12891	blood:	n/a	chr19:45250772-45250781 chr19:45250772-45250781
29	UBTF	chr19:45251851-45252391	K562	blood:	n/a	n/a
30	POLR2A	chr19:45252292-45253527	A549	lung:	n/a	n/a
31	POLR2A	chr19:45251711-45252402	GM12878	blood:	n/a	n/a
32	TCF12	chr19:45247727-45253774	A549	lung:	n/a	chr19:45248399-45248407 chr19:45249956-45249966
33	ZBTB7A	chr19:45251366-45252546	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr19:45250698-45252463	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:45252259-45253459	U87	brain:	n/a	n/a
36	POLR2A	chr19:45250543-45252376	GM19099	blood:	n/a	n/a
37	MAZ	chr19:45249597-45253664	IMR90	lung:	n/a	chr19:45252537-45252546 chr19:45250878-45250887 chr19:45252540-45252550
38	POLR2A	chr19:45252230-45253606	U87	brain:	n/a	n/a
39	POLR2A	chr19:45252276-45252740	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr19:45252347-45252368	GM12878	blood:	n/a	n/a
41	BCLAF1	chr19:45251705-45252515	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:45251714-45252401	A549	lung:	n/a	n/a
43	BCL3	chr19:45247680-45253680	A549	lung:	n/a	chr19:45248561-45248574 chr19:45250739-45250752 chr19:45248567-45248580 chr19:45250771-45250780
44	POLR2A	chr19:45251721-45252417	GM12892	blood:	n/a	n/a
45	HMGN3	chr19:45251765-45252396	K562	blood:	n/a	n/a
46	CTCF	chr19:45252280-45252430	GM12867	blood:	n/a	n/a
47	NR3C1	chr19:45250045-45252398	A549	lung:	n/a	chr19:45250716-45250725
48	UBTF	chr19:45251491-45252434	K562	blood:	n/a	n/a
49	CCNT2	chr19:45251528-45252374	K562	blood:	n/a	chr19:45251673-45251682
50	POLR2A	chr19:45250730-45252538	GM18505	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:45252329-45252379	SAEC	small airway:	n/a
2	chr19:45252329-45252379	AoSMC	blood vessel:	n/a
3	chr19:45252329-45252379	GM06990	blood:	n/a
4	chr19:45252329-45252379	U87	brain:	n/a
5	chr19:45252329-45252379	GM19239	blood:	n/a
6	chr19:45252329-45252379	HCT-116	colon:	n/a
7	chr19:45252329-45252379	NT2-D1	testis:	n/a
8	chr19:45252329-45252379	ECC-1	luminal epithelium:	n/a
9	chr19:45252329-45252379	HMEC	breast:	n/a
10	chr19:45252329-45252379	Hepatocyte	liver:	n/a
11	chr19:45252329-45252379	HL-60	blood:	n/a
12	chr19:45252329-45252379	Hela-S3	cervix:	n/a
13	chr19:45252329-45252379	HPAEpiC	pulmonary alveolar:	n/a
14	chr19:45252329-45252379	HRPEpiC	eye:	n/a
15	chr19:45252329-45252379	H1-hESC	embryonic stem cell:	embryo
16	chr19:45252329-45252379	HRE	kidney:	n/a
17	chr19:45252329-45252379	HRCEpiC	kidney:	n/a
18	chr19:45252329-45252379	HCF	heart:	n/a
19	chr19:45252329-45252379	PrEC	prostate:	n/a
20	chr19:45252329-45252379	CMK	blood:	n/a
21	chr19:45252329-45252379	Caco-2	colon:	n/a
22	chr19:45252329-45252379	RPTEC	kidney:	n/a
23	chr19:45252329-45252379	PANC-1	pancreas:	n/a
24	chr19:45252329-45252379	NB4	blood:	n/a
25	chr19:45252329-45252379	ovcar-3	ovarian:	n/a
26	chr19:45252329-45252379	NHBE	bronchial:	n/a
27	chr19:45252329-45252379	GM12878	blood:	n/a
28	chr19:45252329-45252379	SKMC	muscle:	n/a
29	chr19:45252329-45252379	Jurkat	blood:	n/a
30	chr19:45252329-45252379	HEEpiC	esophagus:	n/a
31	chr19:45252329-45252379	HCM	heart:	n/a
32	chr19:45252329-45252379	K562	blood:	n/a
33	chr19:45252329-45252379	AG04450	lung:	fetal
34	chr19:45252329-45252379	HepG2	liver:	n/a
35	chr19:45252329-45252379	PFSK-1	brain:	n/a
36	chr19:45252329-45252379	AG09309	skin:	n/a
37	chr19:45252329-45252379	MCF10A-Er-Src	breast:	n/a
38	chr19:45252329-45252379	GM12891	blood:	n/a
39	chr19:45252329-45252379	SK-N-SH_RA	brain:	n/a
40	chr19:45252329-45252379	NH-A	brain:	n/a
41	chr19:45252329-45252379	HUVEC	blood vessel:	n/a
42	chr19:45252329-45252379	BJ	skin:	n/a
43	chr19:45252329-45252379	HNPCEpiC	eye:	n/a
44	chr19:45252329-45252379	HIPEpiC	eye:	n/a
45	chr19:45252329-45252379	SK-N-MC	brain:	n/a
46	chr19:45252329-45252379	MCF-7	breast:	n/a
47	chr19:45252329-45252379	LNCaP	prostate:	n/a
48	chr19:45252329-45252379	BE2_C	brain:	n/a
49	chr19:45252329-45252379	ProgFib	skin:	n/a
50	chr19:45252329-45252379	A549	lung:	n/a

(count:15 , 50 per page) page: 1

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	chr19:45250044..45254049-chr19:45347224..45351011,6	MCF-7	breast:
10	chr19:45250785..45254453-chr19:45309921..45313662,4	MCF-7	breast:
11	chr17:79936078..79936868-chr19:45251918..45252553,2	Hela-S3	cervix:
12	chr19:45252053..45254233-chr19:45351379..45354120,2	MCF-7	breast:
13	chr19:45252003..45254960-chr19:45323071..45325536,2	K562	blood:
14	chr19:45222394..45233722-chr19:45248498..45258065,33	MCF-7	breast:
15	chr16:75682151..75683053-chr19:45252133..45253014,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
BCL3	TF binding region
BCL3	CpG island
ENSG00000187244	Chromatin interaction
ENSG00000186567	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000073008	Chromatin interaction
ENSG00000130202	Chromatin interaction
ENSG00000166848	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: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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