Variant report

Variant	rs377139858
Chromosome Location	chr19:42746342-42746343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:122)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42745973-42747912	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr19:42746170-42749635	K562	blood:	n/a	n/a
3	CTCF	chr19:42746342-42749547	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr19:42746203-42747927	Hela-S3	cervix:	n/a	n/a
5	UBTF	chr19:42746040-42747834	K562	blood:	n/a	n/a
6	POLR2A	chr19:42746281-42747619	A549	lung:	n/a	n/a
7	POLR2A	chr19:42745774-42746441	HCT-116	colon:	n/a	n/a
8	BCL3	chr19:42745641-42746557	A549	lung:	n/a	n/a
9	POLR2A	chr19:42746234-42747637	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:42746308-42748017	MCF-7	breast:	n/a	n/a
11	PAX5	chr19:42746333-42747287	GM12892	blood:	n/a	n/a
12	POLR2A	chr19:42745743-42747917	A549	lung:	n/a	n/a
13	JUN	chr19:42745677-42748054	K562	blood:	n/a	n/a
14	EGR1	chr19:42746284-42746982	K562	blood:	n/a	chr19:42746912-42746936 chr19:42746679-42746693 chr19:42746836-42746860 chr19:42746762-42746786
15	MAX	chr19:42746151-42748079	K562	blood:	n/a	chr19:42746833-42746842
16	YY1	chr19:42746237-42747699	HepG2	liver:	n/a	chr19:42746749-42746763 chr19:42746797-42746806
17	MXI1	chr19:42745522-42748046	IMR90	lung:	n/a	n/a
18	CCNT2	chr19:42746270-42747766	K562	blood:	n/a	n/a
19	MXI1	chr19:42745370-42749605	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr19:42746234-42747706	GM12892	blood:	n/a	n/a
21	TCF12	chr19:42745686-42752051	A549	lung:	n/a	n/a
22	SIN3AK20	chr19:42746181-42746440	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr19:42746235-42747647	GM12878	blood:	n/a	n/a
24	POLR2A	chr19:42745784-42747882	PBDE	blood:	n/a	n/a
25	TAF1	chr19:42746129-42747771	ECC-1	luminal epithelium:	n/a	n/a
26	CREB1	chr19:42746329-42747685	A549	lung:	n/a	n/a
27	MYC	chr19:42746186-42746374	NB4	blood:	n/a	n/a
28	JUND	chr19:42746276-42747974	A549	lung:	n/a	n/a
29	HEY1	chr19:42746089-42747106	K562	blood:	n/a	chr19:42746719-42746734 chr19:42746753-42746768
30	MAX	chr19:42745847-42748006	A549	lung:	n/a	chr19:42746833-42746842
31	POLR2A	chr19:42746154-42749677	K562	blood:	n/a	n/a
32	YY1	chr19:42746259-42747897	GM12878	blood:	n/a	chr19:42746749-42746763 chr19:42746797-42746806
33	POLR2A	chr19:42746281-42747634	A549	lung:	n/a	n/a
34	RAD21	chr19:42746100-42747763	IMR90	lung:	n/a	n/a
35	POLR2A	chr19:42746306-42747165	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr19:42746087-42755524	HepG2	liver:	n/a	n/a
37	POLR2A	chr19:42745625-42747824	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr19:42746142-42747964	HL-60	blood:	n/a	n/a
39	POLR2A	chr19:42745727-42755683	PFSK-1	brain:	n/a	n/a
40	HCFC1	chr19:42745876-42748066	Hela-S3	cervix:	n/a	n/a
41	E2F4	chr19:42746025-42746424	MCF10A-Er-Src	breast:	n/a	n/a
42	SP1	chr19:42746132-42748054	A549	lung:	n/a	n/a
43	POLR2A	chr19:42745606-42747873	MCF10A-Er-Src	breast:	n/a	n/a
44	EGR1	chr19:42746226-42747662	K562	blood:	n/a	chr19:42746912-42746936 chr19:42746679-42746693 chr19:42746836-42746860 chr19:42746762-42746786
45	SIN3AK20	chr19:42746168-42747835	K562	blood:	n/a	n/a
46	ELF1	chr19:42746306-42747664	GM12878	blood:	n/a	n/a
47	SIN3A	chr19:42746302-42747784	GM12878	blood:	n/a	chr19:42746751-42746760
48	FOXP2	chr19:42746319-42747601	PFSK-1	brain:	n/a	n/a
49	E2F6	chr19:42746271-42746543	K562	blood:	n/a	n/a
50	POLR2A	chr19:42745983-42747846	IMR90	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42746315-42746365	HRPEpiC	eye:	n/a
2	chr19:42746319-42746369	PFSK-1	brain:	n/a
3	chr19:42746315-42746365	PFSK-1	brain:	n/a
4	chr19:42746319-42746369	NB4	blood:	n/a
5	chr19:42746319-42746369	IMR90	lung:	fetal
6	chr19:42746319-42746369	HL-60	blood:	n/a
7	chr19:42746315-42746365	HNPCEpiC	eye:	n/a
8	chr19:42746319-42746369	K562	blood:	n/a
9	chr19:42746315-42746365	HUVEC	blood vessel:	n/a
10	chr19:42746315-42746365	CMK	blood:	n/a
11	chr19:42746315-42746365	RPTEC	kidney:	n/a
12	chr19:42746315-42746365	HEEpiC	esophagus:	n/a
13	chr19:42746319-42746369	AG09309	skin:	n/a
14	chr19:42746315-42746365	AG04450	lung:	fetal
15	chr19:42746319-42746369	SKMC	muscle:	n/a
16	chr19:42746319-42746369	RPTEC	kidney:	n/a
17	chr19:42746319-42746369	T-47D	breast:	n/a
18	chr19:42746319-42746369	ovcar-3	ovarian:	n/a
19	chr19:42746315-42746365	GM12892	blood:	n/a
20	chr19:42746315-42746365	BJ	skin:	n/a
21	chr19:42746319-42746369	AG04450	lung:	fetal
22	chr19:42746319-42746369	HAEpiC	amniotic membrane:	n/a
23	chr19:42746319-42746369	Hela-S3	cervix:	n/a
24	chr19:42746319-42746369	AG04449	skin:	fetal
25	chr19:42746315-42746365	AG09309	skin:	n/a
26	chr19:42746315-42746365	LNCaP	prostate:	n/a
27	chr19:42746315-42746365	HCPEpiC	choroid plexus:	n/a
28	chr19:42746319-42746369	NT2-D1	testis:	n/a
29	chr19:42746319-42746369	SK-N-SH_RA	brain:	n/a
30	chr19:42746319-42746369	NHBE	bronchial:	n/a
31	chr19:42746315-42746365	SAEC	small airway:	n/a
32	chr19:42746315-42746365	SK-N-MC	brain:	n/a
33	chr19:42746315-42746365	Hepatocyte	liver:	n/a
34	chr19:42746319-42746369	BJ	skin:	n/a
35	chr19:42746319-42746369	SAEC	small airway:	n/a
36	chr19:42746319-42746369	HRE	kidney:	n/a
37	chr19:42746315-42746365	AG10803	skin:	n/a
38	chr19:42746319-42746369	AG09319	gingival:	n/a
39	chr19:42746319-42746369	AoSMC	blood vessel:	n/a
40	chr19:42746319-42746369	CMK	blood:	n/a
41	chr19:42746319-42746369	H1-hESC	embryonic stem cell:	embryo
42	chr19:42746319-42746369	NH-A	brain:	n/a
43	chr19:42746319-42746369	HepG2	liver:	n/a
44	chr19:42746319-42746369	LNCaP	prostate:	n/a
45	chr19:42746319-42746369	Caco-2	colon:	n/a
46	chr19:42746319-42746369	Jurkat	blood:	n/a
47	chr19:42746319-42746369	GM12891	blood:	n/a
48	chr19:42746315-42746365	PrEC	prostate:	n/a
49	chr19:42746319-42746369	HMEC	breast:	n/a
50	chr19:42746315-42746365	ECC-1	luminal epithelium:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42719158..42725942-chr19:42744280..42751391,14	MCF-7	breast:
2	chr19:42722142..42727268-chr19:42743805..42748670,12	MCF-7	breast:
3	chr19:42746221..42749028-chr19:42806673..42809269,4	K562	blood:
4	chr19:42745106..42750336-chr19:42827948..42831181,5	K562	blood:
5	chr19:42634611..42641780-chr19:42741001..42747645,8	MCF-7	breast:
6	chr19:42744952..42747031-chr19:42828094..42829861,2	MCF-7	breast:
7	chr19:42745670..42748955-chr19:42805967..42808847,6	K562	blood:
8	chr19:42745106..42746807-chr19:42829655..42831181,2	K562	blood:
9	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
10	chr19:42626781..42629013-chr19:42746028..42748919,2	K562	blood:
11	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
12	chr19:42720291..42721967-chr19:42744668..42747834,3	MCF-7	breast:
13	chr19:42734779..42737067-chr19:42745327..42747787,2	MCF-7	breast:
14	chr19:42745751..42747885-chr19:42828050..42829792,2	MCF-7	breast:
15	chr19:42362466..42365153-chr19:42745908..42747542,2	K562	blood:
16	chr19:42633522..42638694-chr19:42746138..42750554,7	MCF-7	breast:
17	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:
18	chr19:42695805..42698002-chr19:42744697..42747110,2	MCF-7	breast:

No data

Variant related genes	Relation type
GSK3A	TF binding region
ENSG00000204957	TF binding region
GSK3A	CpG island
ENSG00000204957	CpG island
ENSG00000167625	Chromatin interaction
ENSG00000160570	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000028277	Chromatin interaction
ENSG00000265122	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000266226	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000254887	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv3352699	chr19:42745662-42747910	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 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	chr19:42725000-42747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:42744600-42748800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:42745000-42748000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr19:42745200-42748200	Active TSS	HSMM	muscle
5	chr19:42745400-42746400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr19:42745400-42746400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:42745400-42746400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr19:42745400-42748400	Active TSS	H1 Cell Line	embryonic stem cell
9	chr19:42745400-42749200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42745600-42746400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr19:42745600-42746400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr19:42745600-42746600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr19:42745600-42746600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr19:42745600-42747200	Active TSS	Fetal Muscle Trunk	muscle
15	chr19:42745600-42748200	Active TSS	Right Atrium	heart
16	chr19:42745600-42748800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:42745600-42749000	Active TSS	Right Ventricle	heart
18	chr19:42745600-42749200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:42745800-42746400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr19:42745800-42746400	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:42745800-42746400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr19:42745800-42746400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:42745800-42746400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:42745800-42746400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr19:42745800-42746400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:42745800-42747600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:42745800-42748200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:42745800-42748200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:42745800-42748800	Active TSS	Gastric	stomach
30	chr19:42745800-42749000	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:42745800-42749000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:42745800-42749000	Active TSS	Aorta	Aorta
33	chr19:42745800-42749000	Active TSS	Lung	lung
34	chr19:42745800-42749000	Active TSS	Ovary	ovary
35	chr19:42745800-42749200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:42745800-42749200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr19:42745800-42749200	Active TSS	Esophagus	oesophagus
38	chr19:42745800-42749200	Active TSS	Left Ventricle	heart
39	chr19:42745800-42749200	Active TSS	Stomach Mucosa	stomach
40	chr19:42745800-42749200	Active TSS	NHDF-Ad	bronchial
41	chr19:42746000-42746400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:42746000-42747400	Active TSS	Fetal Thymus	thymus
43	chr19:42746000-42747600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42746000-42747600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr19:42746000-42747600	Active TSS	Brain Germinal Matrix	brain
46	chr19:42746000-42747600	Active TSS	Thymus	Thymus
47	chr19:42746000-42747600	Active TSS	NH-A	brain
48	chr19:42746000-42747800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:42746000-42747800	Active TSS	Muscle Satellite Cultured Cells	--
50	chr19:42746000-42747800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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