Variant report

Variant	rs533135227
Chromosome Location	chr19:44144586-44144587
allele	A/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	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
2	MAX	chr19:44144067-44144622	SK-N-SH	brain:	n/a	chr19:44144377-44144387
3	MAX	chr19:44144083-44144586	K562	blood:	n/a	chr19:44144377-44144387
4	CTCF	chr19:44144560-44144710	GM12871	blood:	n/a	n/a
5	POLR2A	chr19:44143773-44144720	MCF-7	breast:	n/a	n/a
6	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
7	MAX	chr19:44143918-44144761	A549	lung:	n/a	chr19:44144377-44144387
8	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
9	MAZ	chr19:44143222-44144601	IMR90	lung:	n/a	chr19:44144377-44144387
10	MYC	chr19:44144078-44144665	MCF-7	breast:	n/a	chr19:44144377-44144387
11	MAX	chr19:44143958-44144782	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
12	MAZ	chr19:44143883-44144664	K562	blood:	n/a	chr19:44144377-44144387
13	ZBTB7A	chr19:44144465-44144689	K562	blood:	n/a	n/a
14	MAX	chr19:44143974-44144741	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
15	MXI1	chr19:44143627-44144838	SK-N-SH	brain:	n/a	chr19:44144499-44144508
16	MAX	chr19:44144058-44144684	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
17	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
18	HMGN3	chr19:44144103-44144675	K562	blood:	n/a	n/a
19	POLR2A	chr19:44143760-44145045	HepG2	liver:	n/a	n/a
20	MAX	chr19:44143915-44144772	HepG2	liver:	n/a	chr19:44144377-44144387
21	MAX	chr19:44143990-44144707	K562	blood:	n/a	chr19:44144377-44144387
22	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
23	TCF12	chr19:44143967-44144742	A549	lung:	n/a	n/a
24	USF2	chr19:44144321-44144645	H1-hESC	embryonic stem cell:	n/a	n/a
25	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
26	MAX	chr19:44144021-44144762	HepG2	liver:	n/a	chr19:44144377-44144387
27	MYC	chr19:44144160-44144589	MCF-7	breast:	n/a	chr19:44144377-44144387
28	POLR2A	chr19:44142727-44144684	H1-neurons	neurons:	n/a	n/a
29	CBX3	chr19:44144033-44144668	K562	blood:	n/a	n/a
30	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
31	MAX	chr19:44144099-44144601	HepG2	liver:	n/a	chr19:44144377-44144387
32	MAX	chr19:44144019-44144649	MCF-7	breast:	n/a	chr19:44144377-44144387
33	MAX	chr19:44144057-44144687	MCF-7	breast:	n/a	chr19:44144377-44144387
34	POLR2A	chr19:44144037-44144707	MCF-7	breast:	n/a	n/a
35	MAX	chr19:44143877-44144791	A549	lung:	n/a	chr19:44144377-44144387
36	MAX	chr19:44144014-44144721	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
37	REST	chr19:44142677-44144709	H1-neurons	neurons:	n/a	chr19:44144282-44144292 chr19:44144280-44144294 chr19:44144261-44144274 chr19:44144277-44144290 chr19:44144274-44144294
38	MYC	chr19:44144265-44144626	K562	blood:	n/a	chr19:44144377-44144387
39	POLR2A	chr19:44143671-44144626	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44144585-44144635	HUVEC	blood vessel:	n/a
2	chr19:44144585-44144635	HL-60	blood:	n/a
3	chr19:44144585-44144635	U87	brain:	n/a
4	chr19:44144585-44144635	SK-N-MC	brain:	n/a
5	chr19:44144585-44144635	HepG2	liver:	n/a
6	chr19:44144585-44144635	AG09309	skin:	n/a
7	chr19:44144585-44144635	NT2-D1	testis:	n/a
8	chr19:44144585-44144635	HCM	heart:	n/a
9	chr19:44144585-44144635	HRE	kidney:	n/a
10	chr19:44144585-44144635	AG09319	gingival:	n/a
11	chr19:44144585-44144635	Jurkat	blood:	n/a
12	chr19:44144585-44144635	HRPEpiC	eye:	n/a
13	chr19:44144585-44144635	NHBE	bronchial:	n/a
14	chr19:44144585-44144635	ECC-1	luminal epithelium:	n/a
15	chr19:44144585-44144635	PFSK-1	brain:	n/a
16	chr19:44144585-44144635	PrEC	prostate:	n/a
17	chr19:44144585-44144635	LNCaP	prostate:	n/a
18	chr19:44144585-44144635	GM12892	blood:	n/a
19	chr19:44144585-44144635	HCPEpiC	choroid plexus:	n/a
20	chr19:44144585-44144635	H1-hESC	embryonic stem cell:	embryo
21	chr19:44144585-44144635	SK-N-SH	brain:	n/a
22	chr19:44144585-44144635	HIPEpiC	eye:	n/a
23	chr19:44144585-44144635	GM12878	blood:	n/a
24	chr19:44144585-44144635	Caco-2	colon:	n/a
25	chr19:44144585-44144635	K562	blood:	n/a
26	chr19:44144585-44144635	NB4	blood:	n/a
27	chr19:44144585-44144635	HEK293	kidney:	embryo
28	chr19:44144585-44144635	AG10803	skin:	n/a
29	chr19:44144585-44144635	ProgFib	skin:	n/a
30	chr19:44144585-44144635	Hepatocyte	liver:	n/a
31	chr19:44144585-44144635	MCF10A-Er-Src	breast:	n/a
32	chr19:44144585-44144635	NH-A	brain:	n/a
33	chr19:44144585-44144635	HRCEpiC	kidney:	n/a
34	chr19:44144585-44144635	AG04449	skin:	fetal
35	chr19:44144585-44144635	HPAEpiC	pulmonary alveolar:	n/a
36	chr19:44144585-44144635	HAEpiC	amniotic membrane:	n/a
37	chr19:44144585-44144635	HCF	heart:	n/a
38	chr19:44144585-44144635	AoSMC	blood vessel:	n/a
39	chr19:44144585-44144635	BE2_C	brain:	n/a
40	chr19:44144585-44144635	HNPCEpiC	eye:	n/a
41	chr19:44144585-44144635	BJ	skin:	n/a
42	chr19:44144585-44144635	AG04450	lung:	fetal
43	chr19:44144585-44144635	GM12891	blood:	n/a
44	chr19:44144585-44144635	CMK	blood:	n/a
45	chr19:44144585-44144635	A549	lung:	n/a
46	chr19:44144585-44144635	GM19239	blood:	n/a
47	chr19:44144585-44144635	SAEC	small airway:	n/a
48	chr19:44144585-44144635	SKMC	muscle:	n/a
49	chr19:44144585-44144635	ovcar-3	ovarian:	n/a
50	chr19:44144585-44144635	Hela-S3	cervix:	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	chr19:44139192..44141813-chr19:44144492..44146172,2	MCF-7	breast:
4	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
5	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
6	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
7	chr19:44143848..44146165-chr19:44171493..44174030,3	K562	blood:
8	chr19:44144072..44146959-chr19:44160581..44162332,2	MCF-7	breast:
9	chr19:44143406..44146165-chr19:44170107..44174030,3	K562	blood:
10	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
11	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
12	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
13	chr19:44144010..44147763-chr19:44150755..44153654,4	MCF-7	breast:

Variant related genes	Relation type
CADM4	TF binding region
CADM4	CpG island
ENSG00000226763	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000269583	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	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	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:124 , 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	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr19:44143000-44144600	Active TSS	Fetal Kidney	kidney
6	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:44143200-44144600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr19:44143200-44144600	Active TSS	Brain Angular Gyrus	brain
14	chr19:44143200-44144600	Active TSS	Brain Cingulate Gyrus	brain
15	chr19:44143200-44144800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:44143400-44144800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:44143400-44144800	Bivalent/Poised TSS	HSMM	muscle
18	chr19:44143400-44145000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr19:44143600-44144600	Active TSS	Rectal Smooth Muscle	rectum
20	chr19:44144000-44144600	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr19:44144000-44144600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:44144000-44144600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr19:44144000-44144600	Flanking Active TSS	Liver	Liver
24	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr19:44144200-44144600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:44144200-44144600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
30	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
31	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:44144200-44144600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
37	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
38	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
39	chr19:44144200-44144600	Flanking Active TSS	Gastric	stomach
40	chr19:44144200-44144600	Flanking Active TSS	Left Ventricle	heart
41	chr19:44144200-44144600	Flanking Active TSS	Lung	lung
42	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
43	chr19:44144200-44144600	Flanking Active TSS	Right Ventricle	heart
44	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr19:44144200-44144600	Flanking Active TSS	Spleen	Spleen
46	chr19:44144200-44144600	Flanking Active TSS	Dnd41	blood
47	chr19:44144200-44144600	Flanking Active TSS	Hela-S3	cervix
48	chr19:44144200-44144600	Flanking Active TSS	HepG2	liver
49	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
50	chr19:44144200-44144600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood

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