Variant report

Variant	rs530934611
Chromosome Location	chr19:19143917-19143918
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	MXI1	chr19:19142926-19145719	SK-N-SH	brain:	n/a	chr19:19144717-19144726 chr19:19144719-19144728 chr19:19144719-19144728
2	ZBTB7A	chr19:19143613-19144855	K562	blood:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19143755-19143764 chr19:19144172-19144180
3	POLR2A	chr19:19143326-19145416	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr19:19143596-19143968	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:19142191-19144083	PFSK-1	brain:	n/a	n/a
6	CHD1	chr19:19143312-19144024	GM12878	blood:	n/a	n/a
7	MAX	chr19:19143720-19145541	HepG2	liver:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
8	MTA3	chr19:19143254-19144172	GM12878	blood:	n/a	n/a
9	TAF1	chr19:19143775-19144816	PFSK-1	brain:	n/a	n/a
10	YY1	chr19:19143773-19144895	HepG2	liver:	n/a	chr19:19144750-19144761 chr19:19144346-19144357 chr19:19144489-19144498
11	E2F4	chr19:19143717-19143938	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:19143230-19145419	GM12891	blood:	n/a	n/a
13	POLR2A	chr19:19143830-19145320	Hela-S3	cervix:	n/a	n/a
14	PML	chr19:19143101-19145513	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:19143403-19145389	Hela-S3	cervix:	n/a	n/a
16	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
17	POLR2A	chr19:19143807-19145334	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:19143794-19145351	GM18526	blood:	n/a	n/a
19	UBTF	chr19:19143883-19144287	K562	blood:	n/a	n/a
20	MXI1	chr19:19143156-19143917	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:19143119-19145540	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:19143787-19144899	HUVEC	blood vessel:	n/a	n/a
23	MAZ	chr19:19143118-19145494	IMR90	lung:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
24	MYC	chr19:19143304-19145519	K562	blood:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
25	POLR2A	chr19:19143290-19145369	GM18951	blood:	n/a	n/a
26	RCOR1	chr19:19143832-19143967	K562	blood:	n/a	n/a
27	EP300	chr19:19143241-19143931	K562	blood:	n/a	n/a
28	POLR2A	chr19:19143139-19144841	ECC-1	luminal epithelium:	n/a	n/a
29	USF1	chr19:19143573-19144031	K562	blood:	n/a	chr19:19143796-19143807
30	ZBTB7A	chr19:19143822-19144772	ECC-1	luminal epithelium:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19144172-19144180
31	POLR2A	chr19:19143152-19145429	HL-60	blood:	n/a	n/a
32	MAX	chr19:19143099-19145562	HCT-116	colon:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
33	POLR2A	chr19:19143120-19145419	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:19143066-19145439	K562	blood:	n/a	n/a
35	ZMIZ1	chr19:19143843-19145309	K562	blood:	n/a	n/a
36	POLR2A	chr19:19143103-19145471	GM12891	blood:	n/a	n/a
37	USF1	chr19:19143571-19144028	K562	blood:	n/a	chr19:19143796-19143807
38	ZBTB7A	chr19:19143601-19144904	ECC-1	luminal epithelium:	n/a	chr19:19144496-19144507 chr19:19144518-19144525 chr19:19144495-19144506 chr19:19143755-19143764 chr19:19144172-19144180
39	BHLHE40	chr19:19143316-19145488	GM12878	blood:	n/a	chr19:19144484-19144500
40	PAX5	chr19:19143884-19144865	GM12892	blood:	n/a	n/a
41	EGR1	chr19:19143780-19144642	K562	blood:	n/a	chr19:19143886-19143899 chr19:19144428-19144437 chr19:19144264-19144278 chr19:19144161-19144171 chr19:19144363-19144372
42	SIN3AK20	chr19:19143090-19144271	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAZ	chr19:19143299-19145434	K562	blood:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
44	POLR2A	chr19:19143733-19144086	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr19:19142600-19144078	SK-N-MC	brain:	n/a	n/a
46	SMARCB1	chr19:19143608-19144973	Hela-S3	cervix:	n/a	n/a
47	REST	chr19:19143916-19144957	PFSK-1	brain:	n/a	n/a
48	RELA	chr19:19143280-19144838	GM18951	blood:	n/a	n/a
49	MAX	chr19:19143821-19145581	ECC-1	luminal epithelium:	n/a	chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144727 chr19:19144718-19144728
50	USF1	chr19:19143543-19144027	SK-N-SH_RA	brain:	n/a	chr19:19143796-19143807

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	chr19:19143530..19144320-chr7:5632368..5632941,2	NB4	blood:
8	chr1:40041992..40042616-chr19:19143828..19144344,2	Hela-S3	cervix:
9	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
10	chr19:19028019..19031021-chr19:19142402..19146031,5	K562	blood:
11	chr19:19142422..19145596-chr19:19300959..19304249,3	K562	blood:

Variant related genes	Relation type
ARMC6	TF binding region
SUGP2	TF binding region
ENSG00000064607	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000105671	Chromatin interaction
ENSG00000181035	Chromatin interaction
ENSG00000090621	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000213999	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	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr19:19142800-19144000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:19142800-19144000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:19142800-19144000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr19:19142800-19144000	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr19:19142800-19144000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr19:19142800-19144000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr19:19142800-19144200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr19:19142800-19145200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:19142800-19145400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr19:19142800-19145400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:19142800-19145400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:19143000-19144000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr19:19143000-19144800	Active TSS	NH-A	brain
15	chr19:19143000-19145000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19143000-19145000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:19143000-19145000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:19143000-19145000	Active TSS	Fetal Intestine Small	intestine
19	chr19:19143000-19145200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr19:19143000-19145400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr19:19143000-19145400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:19143000-19145400	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr19:19143000-19145600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:19143000-19145600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:19143000-19145600	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr19:19143000-19145600	Active TSS	GM12878-XiMat	blood
27	chr19:19143000-19145600	Active TSS	HSMM	muscle
28	chr19:19143000-19145600	Active TSS	NHDF-Ad	bronchial
29	chr19:19143000-19145600	Active TSS	NHLF	lung
30	chr19:19143000-19146000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:19143200-19144000	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr19:19143200-19144000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:19143200-19144000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:19143200-19144000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:19143200-19144000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr19:19143200-19144000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:19143200-19144000	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr19:19143200-19145000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:19143200-19145000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr19:19143200-19145000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:19143200-19145000	Active TSS	Osteobl	bone
42	chr19:19143200-19145400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr19:19143200-19145400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:19143200-19145400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:19143200-19145400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr19:19143200-19145400	Active TSS	A549	lung
47	chr19:19143200-19145600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr19:19143200-19145600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:19143200-19145600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr19:19143200-19145600	Active TSS	Fetal Kidney	kidney

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