Variant report

Variant	rs529315154
Chromosome Location	chr19:44144613-44144614
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	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	CTCF	chr19:44144560-44144710	GM12871	blood:	n/a	n/a
4	POLR2A	chr19:44143773-44144720	MCF-7	breast:	n/a	n/a
5	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
6	MAX	chr19:44143918-44144761	A549	lung:	n/a	chr19:44144377-44144387
7	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
8	MYC	chr19:44144078-44144665	MCF-7	breast:	n/a	chr19:44144377-44144387
9	MAX	chr19:44143958-44144782	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
10	MAZ	chr19:44143883-44144664	K562	blood:	n/a	chr19:44144377-44144387
11	ZBTB7A	chr19:44144465-44144689	K562	blood:	n/a	n/a
12	MAX	chr19:44143974-44144741	ECC-1	luminal epithelium:	n/a	chr19:44144377-44144387
13	MXI1	chr19:44143627-44144838	SK-N-SH	brain:	n/a	chr19:44144499-44144508
14	MAX	chr19:44144058-44144684	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
15	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
16	HMGN3	chr19:44144103-44144675	K562	blood:	n/a	n/a
17	POLR2A	chr19:44143760-44145045	HepG2	liver:	n/a	n/a
18	MAX	chr19:44143915-44144772	HepG2	liver:	n/a	chr19:44144377-44144387
19	MAX	chr19:44143990-44144707	K562	blood:	n/a	chr19:44144377-44144387
20	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
21	TCF12	chr19:44143967-44144742	A549	lung:	n/a	n/a
22	USF2	chr19:44144321-44144645	H1-hESC	embryonic stem cell:	n/a	n/a
23	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
24	MAX	chr19:44144021-44144762	HepG2	liver:	n/a	chr19:44144377-44144387
25	POLR2A	chr19:44142727-44144684	H1-neurons	neurons:	n/a	n/a
26	CBX3	chr19:44144033-44144668	K562	blood:	n/a	n/a
27	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
28	MAX	chr19:44144019-44144649	MCF-7	breast:	n/a	chr19:44144377-44144387
29	MAX	chr19:44144057-44144687	MCF-7	breast:	n/a	chr19:44144377-44144387
30	POLR2A	chr19:44144037-44144707	MCF-7	breast:	n/a	n/a
31	MAX	chr19:44143877-44144791	A549	lung:	n/a	chr19:44144377-44144387
32	MAX	chr19:44144014-44144721	H1-hESC	embryonic stem cell:	n/a	chr19:44144377-44144387
33	REST	chr19:44142677-44144709	H1-neurons	neurons:	n/a	chr19:44144282-44144292 chr19:44144280-44144294 chr19:44144261-44144274 chr19:44144277-44144290 chr19:44144274-44144294
34	MYC	chr19:44144265-44144626	K562	blood:	n/a	chr19:44144377-44144387
35	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
ENSG00000131116	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000105767	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:112 , 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	chr19:44143000-44144800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:44143000-44144800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:44143000-44144800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:44143000-44144800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:44143000-44145000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr19:44143200-44144800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:44143400-44144800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:44143400-44144800	Bivalent/Poised TSS	HSMM	muscle
14	chr19:44143400-44145000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:44144200-44144800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
18	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
19	chr19:44144200-44144800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:44144200-44144800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr19:44144200-44144800	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
31	chr19:44144200-44144800	Flanking Active TSS	Esophagus	oesophagus
32	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr19:44144200-44144800	Flanking Active TSS	Fetal Brain Male	brain
34	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr19:44144200-44144800	Bivalent Enhancer	Placenta	Placenta
36	chr19:44144200-44144800	Flanking Active TSS	Ovary	ovary
37	chr19:44144200-44144800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
39	chr19:44144200-44144800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
40	chr19:44144200-44144800	Flanking Active TSS	HMEC	breast
41	chr19:44144200-44145000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr19:44144200-44145000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr19:44144200-44145000	Flanking Active TSS	Pancreas	Pancrea
44	chr19:44144200-44145000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr19:44144400-44144800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:44144400-44144800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr19:44144400-44144800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr19:44144400-44144800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:44144400-44144800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr19:44144400-44144800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood

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