Variant report

Variant	rs537845970
Chromosome Location	chr19:19144355-19144356
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	CEBPB	chr19:19144143-19144811	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr19:19144178-19145507	Hela-S3	cervix:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
3	MAX	chr19:19144281-19145486	MCF-7	breast:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
4	TAF1	chr19:19144070-19144827	SK-N-SH	brain:	n/a	n/a
5	MXI1	chr19:19144293-19145568	K562	blood:	n/a	chr19:19144717-19144726 chr19:19144719-19144728 chr19:19144719-19144728
6	TBL1XR1	chr19:19144128-19145203	K562	blood:	n/a	n/a
7	POLR2A	chr19:19144172-19144800	A549	lung:	n/a	n/a
8	E2F4	chr19:19144296-19144897	MCF10A-Er-Src	breast:	n/a	chr19:19144632-19144643 chr19:19144644-19144653 chr19:19144762-19144777 chr19:19144363-19144372 chr19:19144428-19144437
9	MXI1	chr19:19142926-19145719	SK-N-SH	brain:	n/a	chr19:19144717-19144726 chr19:19144719-19144728 chr19:19144719-19144728
10	ZBTB7A	chr19:19143613-19144855	K562	blood:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19143755-19143764 chr19:19144172-19144180
11	POLR2A	chr19:19143326-19145416	MCF10A-Er-Src	breast:	n/a	n/a
12	HEY1	chr19:19143984-19144928	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:19144083-19145405	K562	blood:	n/a	n/a
14	POU2F2	chr19:19144079-19144853	GM12878	blood:	n/a	chr19:19144327-19144334 chr19:19144325-19144335 chr19:19144486-19144498 chr19:19144325-19144337 chr19:19144326-19144335 chr19:19144323-19144337 chr19:19144326-19144336 chr19:19144326-19144336 chr19:19144323-19144338
15	EP300	chr19:19144230-19144607	GM12878	blood:	n/a	chr19:19144375-19144384 chr19:19144489-19144498 chr19:19144356-19144372
16	MAX	chr19:19143720-19145541	HepG2	liver:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
17	MYC	chr19:19144289-19144972	MCF-7	breast:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
18	ATF3	chr19:19144098-19144573	HepG2	liver:	n/a	chr19:19144148-19144168 chr19:19144167-19144176 chr19:19144354-19144363
19	TAF1	chr19:19143775-19144816	PFSK-1	brain:	n/a	n/a
20	ZNF143	chr19:19144237-19144872	Hela-S3	cervix:	n/a	n/a
21	YY1	chr19:19143773-19144895	HepG2	liver:	n/a	chr19:19144750-19144761 chr19:19144346-19144357 chr19:19144489-19144498
22	POLR2A	chr19:19143230-19145419	GM12891	blood:	n/a	n/a
23	CTCF	chr19:19144111-19144707	K562	blood:	n/a	chr19:19144483-19144496
24	GTF2F1	chr19:19144255-19144581	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPD	chr19:19144088-19144902	K562	blood:	n/a	n/a
26	POLR2A	chr19:19143830-19145320	Hela-S3	cervix:	n/a	n/a
27	PML	chr19:19143101-19145513	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:19143403-19145389	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr19:19144071-19144823	A549	lung:	n/a	n/a
30	MAFK	chr19:19144208-19145328	Hela-S3	cervix:	n/a	n/a
31	ELF1	chr19:19143980-19144855	K562	blood:	n/a	n/a
32	POU2F2	chr19:19143721-19144783	GM12891	blood:	n/a	chr19:19143883-19143895 chr19:19144327-19144334 chr19:19144325-19144335 chr19:19144486-19144498 chr19:19144325-19144337 chr19:19144326-19144335 chr19:19144323-19144337 chr19:19144326-19144336 chr19:19144326-19144336 chr19:19144323-19144338
33	TRIM28	chr19:19144323-19145519	K562	blood:	n/a	n/a
34	POLR2A	chr19:19143950-19144922	ECC-1	luminal epithelium:	n/a	n/a
35	POLR2A	chr19:19143807-19145334	Hela-S3	cervix:	n/a	n/a
36	ETS1	chr19:19143924-19144355	K562	blood:	n/a	n/a
37	CEBPB	chr19:19144225-19144677	HepG2	liver:	n/a	n/a
38	CCNT2	chr19:19143963-19145432	K562	blood:	n/a	n/a
39	E2F4	chr19:19144169-19144920	K562	blood:	n/a	chr19:19144632-19144643 chr19:19144644-19144653 chr19:19144762-19144777 chr19:19144363-19144372 chr19:19144428-19144437
40	POLR2A	chr19:19143794-19145351	GM18526	blood:	n/a	n/a
41	CEBPB	chr19:19144287-19144709	MCF-7	breast:	n/a	n/a
42	NRF1	chr19:19144203-19144819	K562	blood:	n/a	chr19:19144427-19144438 chr19:19144362-19144371 chr19:19144645-19144654 chr19:19144424-19144438 chr19:19144643-19144654 chr19:19144392-19144403 chr19:19144359-19144373 chr19:19144426-19144437 chr19:19144427-19144436 chr19:19144362-19144376 chr19:19144362-19144373 chr19:19144640-19144654 chr19:19144427-19144441
43	EP300	chr19:19144298-19144826	HepG2	liver:	n/a	chr19:19144750-19144766 chr19:19144375-19144384 chr19:19144489-19144498 chr19:19144356-19144372
44	MAX	chr19:19144130-19145566	MCF-7	breast:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
45	MYC	chr19:19144286-19145456	K562	blood:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
46	POLR2A	chr19:19143119-19145540	GM12892	blood:	n/a	n/a
47	POLR2A	chr19:19143787-19144899	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr19:19144125-19144820	HepG2	liver:	n/a	n/a
49	RCOR1	chr19:19144355-19145212	GM12878	blood:	n/a	n/a
50	YY1	chr19:19143994-19144517	SK-N-SH_RA	brain:	n/a	chr19:19144346-19144357 chr19:19144489-19144498

No.	Distal block	Cell Line	Cell type
1	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
2	chr19:19143660..19145632-chr19:19301840..19304072,2	MCF-7	breast:
3	chr19:19140364..19142501-chr19:19142973..19144893,2	MCF-7	breast:
4	chr19:19142905..19145164-chr19:19230033..19232752,3	K562	blood:
5	chr19:19142872..19145120-chr19:19247673..19249634,2	K562	blood:
6	chr19:19143657..19146284-chr19:19174594..19176382,2	MCF-7	breast:
7	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
8	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:
9	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:

Variant related genes	Relation type
SUGP2	TF binding region
ARMC6	TF binding region
ENSG00000064607	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	esv3362167	chr19:19143102-19145750	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19142800-19145200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:19142800-19145400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr19:19142800-19145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:19142800-19145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr19:19143000-19144800	Active TSS	NH-A	brain
6	chr19:19143000-19145000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:19143000-19145000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:19143000-19145000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:19143000-19145000	Active TSS	Fetal Intestine Small	intestine
10	chr19:19143000-19145200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr19:19143000-19145400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:19143000-19145400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:19143000-19145400	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr19:19143000-19145600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:19143000-19145600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr19:19143000-19145600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:19143000-19145600	Active TSS	GM12878-XiMat	blood
18	chr19:19143000-19145600	Active TSS	HSMM	muscle
19	chr19:19143000-19145600	Active TSS	NHDF-Ad	bronchial
20	chr19:19143000-19145600	Active TSS	NHLF	lung
21	chr19:19143000-19146000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:19143200-19145000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:19143200-19145000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:19143200-19145000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr19:19143200-19145000	Active TSS	Osteobl	bone
26	chr19:19143200-19145400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr19:19143200-19145400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:19143200-19145400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:19143200-19145400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr19:19143200-19145400	Active TSS	A549	lung
31	chr19:19143200-19145600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr19:19143200-19145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19143200-19145600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:19143200-19145600	Active TSS	Fetal Kidney	kidney
35	chr19:19143200-19145600	Active TSS	HSMMtube	muscle
36	chr19:19143400-19144400	Active TSS	Right Atrium	heart
37	chr19:19143400-19144600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr19:19143400-19144600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr19:19143400-19144600	Active TSS	Dnd41	blood
40	chr19:19143400-19144800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr19:19143400-19144800	Active TSS	Right Ventricle	heart
42	chr19:19143400-19145000	Active TSS	Aorta	Aorta
43	chr19:19143400-19145000	Active TSS	Esophagus	oesophagus
44	chr19:19143400-19145000	Active TSS	Psoas Muscle	Psoas
45	chr19:19143400-19145000	Active TSS	Thymus	Thymus
46	chr19:19143400-19145200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:19143400-19145200	Active TSS	Lung	lung
48	chr19:19143400-19145200	Active TSS	Ovary	ovary
49	chr19:19143400-19145400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr19:19143400-19145400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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