Variant report

Variant	rs532040112
Chromosome Location	chr19:44144333-44144334
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	POLR2A	chr19:44144049-44144493	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	MAX	chr19:44144067-44144622	SK-N-SH	brain:	n/a	chr19:44144377-44144387
4	SIN3A	chr19:44144129-44144522	H1-hESC	embryonic stem cell:	n/a	chr19:44144283-44144292
5	POLR2A	chr19:44144053-44144336	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr19:44144083-44144586	K562	blood:	n/a	chr19:44144377-44144387
7	MAX	chr19:44144203-44144413	Hela-S3	cervix:	n/a	chr19:44144377-44144387
8	MXI1	chr19:44144319-44144497	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr19:44144255-44144517	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr19:44143773-44144720	MCF-7	breast:	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	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
14	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
15	MYC	chr19:44144171-44144548	K562	blood:	n/a	chr19:44144377-44144387
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	E2F4	chr19:44144214-44144389	MCF10A-Er-Src	breast:	n/a	chr19:44144237-44144249 chr19:44144241-44144248 chr19:44144241-44144248 chr19:44144241-44144248
19	MYC	chr19:44144180-44144571	MCF-7	breast:	n/a	chr19:44144377-44144387
20	POLR2A	chr19:44144008-44144421	SK-N-MC	brain:	n/a	n/a
21	MYC	chr19:44144078-44144665	MCF-7	breast:	n/a	chr19:44144377-44144387
22	MAX	chr19:44143958-44144782	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
23	MAZ	chr19:44143883-44144664	K562	blood:	n/a	chr19:44144377-44144387
24	CREB1	chr19:44143997-44144345	A549	lung:	n/a	n/a
25	MAX	chr19:44143974-44144741	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
26	MXI1	chr19:44143627-44144838	SK-N-SH	brain:	n/a	chr19:44144499-44144508
27	CEBPD	chr19:44144006-44144368	HepG2	liver:	n/a	n/a
28	MAX	chr19:44144058-44144684	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
29	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
30	BHLHE40	chr19:44144173-44144455	K562	blood:	n/a	n/a
31	HMGN3	chr19:44144103-44144675	K562	blood:	n/a	n/a
32	POLR2A	chr19:44143760-44145045	HepG2	liver:	n/a	n/a
33	MAX	chr19:44143915-44144772	HepG2	liver:	n/a	chr19:44144377-44144387
34	MAX	chr19:44143990-44144707	K562	blood:	n/a	chr19:44144377-44144387
35	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
36	TCF12	chr19:44143967-44144742	A549	lung:	n/a	n/a
37	USF2	chr19:44144321-44144645	H1-hESC	embryonic stem cell:	n/a	n/a
38	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
39	MAX	chr19:44144021-44144762	HepG2	liver:	n/a	chr19:44144377-44144387
40	MYC	chr19:44144160-44144589	MCF-7	breast:	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	CCNT2	chr19:44144229-44144443	K562	blood:	n/a	n/a
44	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
45	IRF1	chr19:44144083-44144398	K562	blood:	n/a	n/a
46	MAX	chr19:44144099-44144601	HepG2	liver:	n/a	chr19:44144377-44144387
47	MAX	chr19:44144019-44144649	MCF-7	breast:	n/a	chr19:44144377-44144387
48	MAZ	chr19:44144180-44144499	Hela-S3	cervix:	n/a	chr19:44144377-44144387
49	MAX	chr19:44144057-44144687	MCF-7	breast:	n/a	chr19:44144377-44144387
50	HEY1	chr19:44144023-44144354	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:44144305-44144355	PFSK-1	brain:	n/a
2	chr19:44144305-44144355	ovcar-3	ovarian:	n/a
3	chr19:44144305-44144355	HAEpiC	amniotic membrane:	n/a
4	chr19:44144305-44144355	AG04449	skin:	fetal
5	chr19:44144305-44144355	AG09309	skin:	n/a
6	chr19:44144305-44144355	NHBE	bronchial:	n/a
7	chr19:44144305-44144355	BE2_C	brain:	n/a
8	chr19:44144305-44144355	T-47D	breast:	n/a
9	chr19:44144305-44144355	HEEpiC	esophagus:	n/a
10	chr19:44144305-44144355	NHDF-neo	bronchial:	n/a
11	chr19:44144305-44144355	HUVEC	blood vessel:	n/a
12	chr19:44144305-44144355	GM12891	blood:	n/a
13	chr19:44144305-44144355	SK-N-SH	brain:	n/a
14	chr19:44144305-44144355	AG10803	skin:	n/a
15	chr19:44144305-44144355	AG04450	lung:	fetal
16	chr19:44144305-44144355	IMR90	lung:	fetal
17	chr19:44144305-44144355	Caco-2	colon:	n/a
18	chr19:44144305-44144355	HCM	heart:	n/a
19	chr19:44144305-44144355	PrEC	prostate:	n/a
20	chr19:44144305-44144355	SKMC	muscle:	n/a
21	chr19:44144305-44144355	A549	lung:	n/a
22	chr19:44144305-44144355	LNCaP	prostate:	n/a
23	chr19:44144305-44144355	HepG2	liver:	n/a
24	chr19:44144305-44144355	GM19239	blood:	n/a
25	chr19:44144305-44144355	MCF10A-Er-Src	breast:	n/a
26	chr19:44144305-44144355	BJ	skin:	n/a
27	chr19:44144305-44144355	HRCEpiC	kidney:	n/a
28	chr19:44144305-44144355	K562	blood:	n/a
29	chr19:44144305-44144355	HCT-116	colon:	n/a
30	chr19:44144305-44144355	ProgFib	skin:	n/a
31	chr19:44144305-44144355	SAEC	small airway:	n/a
32	chr19:44144305-44144355	HNPCEpiC	eye:	n/a
33	chr19:44144305-44144355	AoSMC	blood vessel:	n/a
34	chr19:44144305-44144355	SK-N-MC	brain:	n/a
35	chr19:44144305-44144355	HIPEpiC	eye:	n/a
36	chr19:44144305-44144355	PANC-1	pancreas:	n/a
37	chr19:44144305-44144355	H1-hESC	embryonic stem cell:	embryo
38	chr19:44144305-44144355	HRE	kidney:	n/a
39	chr19:44144305-44144355	HRPEpiC	eye:	n/a
40	chr19:44144305-44144355	Hepatocyte	liver:	n/a
41	chr19:44144305-44144355	HL-60	blood:	n/a
42	chr19:44144305-44144355	SK-N-SH_RA	brain:	n/a
43	chr19:44144305-44144355	ECC-1	luminal epithelium:	n/a
44	chr19:44144305-44144355	HCPEpiC	choroid plexus:	n/a
45	chr19:44144305-44144355	GM12892	blood:	n/a
46	chr19:44144305-44144355	MCF-7	breast:	n/a
47	chr19:44144305-44144355	HMEC	breast:	n/a
48	chr19:44144305-44144355	GM12878	blood:	n/a
49	chr19:44144305-44144355	U87	brain:	n/a
50	chr19:44144305-44144355	NT2-D1	testis:	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
ENSG00000131116	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000073050	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:127 , 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	chr19:44143000-44144400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr19:44143000-44144400	Active TSS	Brain Anterior Caudate	brain
7	chr19:44143000-44144400	Active TSS	Colon Smooth Muscle	Colon
8	chr19:44143000-44144400	Bivalent/Poised TSS	Fetal Stomach	stomach
9	chr19:44143000-44144600	Active TSS	Fetal Kidney	kidney
10	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr19:44143200-44144400	Active TSS	Brain Hippocampus Middle	brain
17	chr19:44143200-44144400	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr19:44143200-44144400	Active TSS	Fetal Brain Female	brain
19	chr19:44143200-44144600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:44143200-44144600	Active TSS	Brain Angular Gyrus	brain
21	chr19:44143200-44144600	Active TSS	Brain Cingulate Gyrus	brain
22	chr19:44143200-44144800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr19:44143400-44144400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:44143400-44144400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:44143400-44144400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:44143400-44144400	Bivalent/Poised TSS	Psoas Muscle	Psoas
27	chr19:44143400-44144800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr19:44143400-44144800	Bivalent/Poised TSS	HSMM	muscle
29	chr19:44143400-44145000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:44143600-44144400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:44143600-44144400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:44143600-44144400	Bivalent/Poised TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:44143600-44144400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr19:44143600-44144400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:44143600-44144400	Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:44143600-44144400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:44143600-44144400	Active TSS	Aorta	Aorta
38	chr19:44143600-44144400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:44143600-44144400	Weak transcription	Fetal Heart	heart
40	chr19:44143600-44144400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr19:44143600-44144400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
42	chr19:44143600-44144400	Active TSS	Small Intestine	intestine
43	chr19:44143600-44144400	Active TSS	A549	lung
44	chr19:44143600-44144400	Active TSS	HSMMtube	muscle
45	chr19:44143600-44144400	Active TSS	K562	blood
46	chr19:44143600-44144400	Bivalent/Poised TSS	NHLF	lung
47	chr19:44143600-44144600	Active TSS	Rectal Smooth Muscle	rectum
48	chr19:44143800-44144400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:44143800-44144400	Bivalent/Poised TSS	Thymus	Thymus
50	chr19:44144000-44144400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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