Variant report

Variant	rs569202488
Chromosome Location	chr19:44144150-44144151
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	POLR2A	chr19:44144039-44144243	K562	blood:	n/a	n/a
2	POLR2A	chr19:44144049-44144493	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr19:44144062-44144755	H1-hESC	embryonic stem cell:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
4	MAX	chr19:44144067-44144622	SK-N-SH	brain:	n/a	chr19:44144377-44144387
5	SIN3A	chr19:44144129-44144522	H1-hESC	embryonic stem cell:	n/a	chr19:44144283-44144292
6	POLR2A	chr19:44144053-44144336	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr19:44144083-44144586	K562	blood:	n/a	chr19:44144377-44144387
8	POLR2A	chr19:44144029-44144236	HCT-116	colon:	n/a	n/a
9	POLR2A	chr19:44143773-44144720	MCF-7	breast:	n/a	n/a
10	POLR2A	chr19:44144041-44144323	HepG2	liver:	n/a	n/a
11	E2F6	chr19:44143985-44144808	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
12	MAX	chr19:44143918-44144761	A549	lung:	n/a	chr19:44144377-44144387
13	POLR2A	chr19:44144066-44144194	A549	lung:	n/a	n/a
14	E2F6	chr19:44143966-44144753	A549	lung:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
15	E2F6	chr19:44144023-44144445	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
16	MAZ	chr19:44143222-44144601	IMR90	lung:	n/a	chr19:44144377-44144387
17	POLR2A	chr19:44144067-44144341	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr19:44144062-44144251	HepG2	liver:	n/a	n/a
19	POLR2A	chr19:44144008-44144421	SK-N-MC	brain:	n/a	n/a
20	MYC	chr19:44144078-44144665	MCF-7	breast:	n/a	chr19:44144377-44144387
21	MAX	chr19:44143958-44144782	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
22	MAZ	chr19:44143883-44144664	K562	blood:	n/a	chr19:44144377-44144387
23	CREB1	chr19:44143997-44144345	A549	lung:	n/a	n/a
24	MAZ	chr19:44144047-44144273	GM12878	blood:	n/a	n/a
25	MAX	chr19:44143974-44144741	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
26	ZBTB7A	chr19:44143987-44144319	K562	blood:	n/a	n/a
27	MXI1	chr19:44143627-44144838	SK-N-SH	brain:	n/a	chr19:44144499-44144508
28	CEBPD	chr19:44144006-44144368	HepG2	liver:	n/a	n/a
29	MAX	chr19:44144058-44144684	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
30	YY1	chr19:44144034-44144310	HepG2	liver:	n/a	n/a
31	E2F6	chr19:44143843-44144647	K562	blood:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
32	HMGN3	chr19:44144103-44144675	K562	blood:	n/a	n/a
33	YY1	chr19:44144146-44144332	K562	blood:	n/a	n/a
34	POLR2A	chr19:44143760-44145045	HepG2	liver:	n/a	n/a
35	MAX	chr19:44143915-44144772	HepG2	liver:	n/a	chr19:44144377-44144387
36	MAX	chr19:44143990-44144707	K562	blood:	n/a	chr19:44144377-44144387
37	E2F6	chr19:44144058-44144652	Hela-S3	cervix:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
38	TCF12	chr19:44143967-44144742	A549	lung:	n/a	n/a
39	E2F6	chr19:44144020-44144698	A549	lung:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
40	MAX	chr19:44144021-44144762	HepG2	liver:	n/a	chr19:44144377-44144387
41	POLR2A	chr19:44142727-44144684	H1-neurons	neurons:	n/a	n/a
42	CBX3	chr19:44144033-44144668	K562	blood:	n/a	n/a
43	CHD2	chr19:44144131-44144322	K562	blood:	n/a	n/a
44	POLR2A	chr19:44144006-44144316	HCT-116	colon:	n/a	n/a
45	E2F6	chr19:44144021-44144699	H1-hESC	embryonic stem cell:	n/a	chr19:44144383-44144392 chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144238-44144249 chr19:44144241-44144248
46	POLR2A	chr19:44144130-44144237	Hela-S3	cervix:	n/a	n/a
47	IRF1	chr19:44144083-44144398	K562	blood:	n/a	n/a
48	MAX	chr19:44144099-44144601	HepG2	liver:	n/a	chr19:44144377-44144387
49	MAX	chr19:44144019-44144649	MCF-7	breast:	n/a	chr19:44144377-44144387
50	MAX	chr19:44144057-44144687	MCF-7	breast:	n/a	chr19:44144377-44144387

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44144149-44144199	K562	blood:	n/a
2	chr19:44144149-44144199	SK-N-SH	brain:	n/a
3	chr19:44144149-44144199	HCM	heart:	n/a
4	chr19:44144149-44144199	H1-hESC	embryonic stem cell:	embryo
5	chr19:44144149-44144199	U87	brain:	n/a
6	chr19:44144149-44144199	AG10803	skin:	n/a
7	chr19:44144149-44144199	GM12892	blood:	n/a
8	chr19:44144149-44144199	AG04450	lung:	fetal
9	chr19:44144149-44144199	CMK	blood:	n/a
10	chr19:44144149-44144199	NB4	blood:	n/a
11	chr19:44144149-44144199	HCT-116	colon:	n/a
12	chr19:44144149-44144199	PrEC	prostate:	n/a
13	chr19:44144149-44144199	HIPEpiC	eye:	n/a
14	chr19:44144149-44144199	HRPEpiC	eye:	n/a
15	chr19:44144149-44144199	HMEC	breast:	n/a
16	chr19:44144149-44144199	HL-60	blood:	n/a
17	chr19:44144149-44144199	ovcar-3	ovarian:	n/a
18	chr19:44144149-44144199	LNCaP	prostate:	n/a
19	chr19:44144149-44144199	AoSMC	blood vessel:	n/a
20	chr19:44144149-44144199	HNPCEpiC	eye:	n/a
21	chr19:44144149-44144199	Jurkat	blood:	n/a
22	chr19:44144149-44144199	MCF10A-Er-Src	breast:	n/a
23	chr19:44144149-44144199	HCF	heart:	n/a
24	chr19:44144149-44144199	A549	lung:	n/a
25	chr19:44144149-44144199	AG09309	skin:	n/a
26	chr19:44144149-44144199	Caco-2	colon:	n/a
27	chr19:44144149-44144199	HRE	kidney:	n/a
28	chr19:44144149-44144199	SKMC	muscle:	n/a
29	chr19:44144149-44144199	HUVEC	blood vessel:	n/a
30	chr19:44144149-44144199	MCF-7	breast:	n/a
31	chr19:44144149-44144199	IMR90	lung:	fetal
32	chr19:44144149-44144199	HRCEpiC	kidney:	n/a
33	chr19:44144149-44144199	AG04449	skin:	fetal
34	chr19:44144149-44144199	GM12878	blood:	n/a
35	chr19:44144149-44144199	Hepatocyte	liver:	n/a
36	chr19:44144149-44144199	HCPEpiC	choroid plexus:	n/a
37	chr19:44144149-44144199	ProgFib	skin:	n/a
38	chr19:44144149-44144199	Hela-S3	cervix:	n/a
39	chr19:44144149-44144199	GM19239	blood:	n/a
40	chr19:44144149-44144199	NH-A	brain:	n/a
41	chr19:44144149-44144199	RPTEC	kidney:	n/a
42	chr19:44144149-44144199	SAEC	small airway:	n/a
43	chr19:44144149-44144199	GM06990	blood:	n/a
44	chr19:44144149-44144199	NHBE	bronchial:	n/a
45	chr19:44144149-44144199	PANC-1	pancreas:	n/a
46	chr19:44144149-44144199	HepG2	liver:	n/a
47	chr19:44144149-44144199	HEK293	kidney:	embryo
48	chr19:44144149-44144199	HPAEpiC	pulmonary alveolar:	n/a
49	chr19:44144149-44144199	AG09319	gingival:	n/a
50	chr19:44144149-44144199	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:44142549..44145039-chr19:44172421..44174578,2	MCF-7	breast:
2	chr19:44143944..44145694-chr19:44172387..44174161,2	MCF-7	breast:
3	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
4	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
5	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
6	chr19:44143848..44146165-chr19:44171493..44174030,3	K562	blood:
7	chr19:44144072..44146959-chr19:44160581..44162332,2	MCF-7	breast:
8	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
9	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
10	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
11	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
12	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:

Variant related genes	Relation type
CADM4	TF binding region
CADM4	CpG island
ENSG00000234465	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3324628	chr19:44142737-44145285	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv579852	chr19:44142771-44149449	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv11178	chr19:44142913-44144340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3365982	chr19:44143062-44144960	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44141600-44144800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:44142600-44144200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr19:44142800-44144200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr19:44143000-44144200	Bivalent/Poised TSS	HUVEC	blood vessel
8	chr19:44143000-44144400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr19:44143000-44144400	Active TSS	Brain Anterior Caudate	brain
10	chr19:44143000-44144400	Active TSS	Colon Smooth Muscle	Colon
11	chr19:44143000-44144400	Bivalent/Poised TSS	Fetal Stomach	stomach
12	chr19:44143000-44144600	Active TSS	Fetal Kidney	kidney
13	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:44143200-44144200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:44143200-44144200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr19:44143200-44144200	Active TSS	Brain Germinal Matrix	brain
22	chr19:44143200-44144400	Active TSS	Brain Hippocampus Middle	brain
23	chr19:44143200-44144400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr19:44143200-44144400	Active TSS	Fetal Brain Female	brain
25	chr19:44143200-44144600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:44143200-44144600	Active TSS	Brain Angular Gyrus	brain
27	chr19:44143200-44144600	Active TSS	Brain Cingulate Gyrus	brain
28	chr19:44143200-44144800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr19:44143400-44144200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
30	chr19:44143400-44144200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:44143400-44144200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr19:44143400-44144200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr19:44143400-44144200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:44143400-44144200	Active TSS	Brain Substantia Nigra	brain
35	chr19:44143400-44144200	Active TSS	Left Ventricle	heart
36	chr19:44143400-44144200	Enhancers	Lung	lung
37	chr19:44143400-44144200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
38	chr19:44143400-44144200	Enhancers	Spleen	Spleen
39	chr19:44143400-44144400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:44143400-44144400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:44143400-44144400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr19:44143400-44144400	Bivalent/Poised TSS	Psoas Muscle	Psoas
43	chr19:44143400-44144800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
44	chr19:44143400-44144800	Bivalent/Poised TSS	HSMM	muscle
45	chr19:44143400-44145000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr19:44143600-44144200	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:44143600-44144200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:44143600-44144200	Bivalent Enhancer	Primary T cells from cord blood	blood
49	chr19:44143600-44144200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
50	chr19:44143600-44144200	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain

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