Variant report

Variant	rs544063926
Chromosome Location	chr16:47007770-47007771
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	CUX1	chr16:47007604-47007836	K562	blood:	n/a	n/a
2	MAX	chr16:47007224-47008192	HCT-116	colon:	n/a	n/a
3	TAF7	chr16:47007264-47007933	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:47006529-47007954	HepG2	liver:	n/a	n/a
5	NR2C2	chr16:47007074-47007931	GM12878	blood:	n/a	chr16:47007608-47007621 chr16:47007607-47007622
6	TAF1	chr16:47007278-47007983	H1-neurons	neurons:	n/a	n/a
7	SIX5	chr16:47007452-47007772	A549	lung:	n/a	n/a
8	POLR2A	chr16:47006279-47008925	GM12878	blood:	n/a	n/a
9	RCOR1	chr16:47007708-47007928	K562	blood:	n/a	n/a
10	RFX5	chr16:47007420-47007989	HepG2	liver:	n/a	n/a
11	CTCF	chr16:47007740-47007890	GM12869	blood:	n/a	n/a
12	MAX	chr16:47006177-47008159	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
13	POLR2A	chr16:47007387-47008553	HCT-116	colon:	n/a	n/a
14	PML	chr16:47007426-47007838	GM12878	blood:	n/a	n/a
15	ELF1	chr16:47007182-47007855	GM12878	blood:	n/a	chr16:47007222-47007234 chr16:47007264-47007273 chr16:47007260-47007272 chr16:47007261-47007270 chr16:47007649-47007661 chr16:47007595-47007607 chr16:47007257-47007269
16	EBF1	chr16:47007443-47008593	GM12878	blood:	n/a	n/a
17	FOXA1	chr16:47006873-47008093	HepG2	liver:	n/a	n/a
18	TAF1	chr16:47007293-47008043	ECC-1	luminal epithelium:	n/a	n/a
19	ELF1	chr16:47007375-47007943	MCF-7	breast:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
20	TEAD4	chr16:47007399-47008085	K562	blood:	n/a	n/a
21	E2F6	chr16:47007350-47008285	A549	lung:	n/a	chr16:47007654-47007663 chr16:47007361-47007371 chr16:47007597-47007606
22	POLR2A	chr16:47006360-47008038	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr16:47007397-47008431	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:47007281-47008042	SK-N-MC	brain:	n/a	n/a
25	TAF1	chr16:47007331-47007956	PFSK-1	brain:	n/a	n/a
26	TAF1	chr16:47007390-47007811	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr16:47006406-47008908	Raji	blood:	n/a	n/a
28	POLR2A	chr16:47006774-47008042	MCF-7	breast:	n/a	n/a
29	ZBTB7A	chr16:47007430-47007801	K562	blood:	n/a	n/a
30	ELF1	chr16:47007347-47007951	HepG2	liver:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
31	MAX	chr16:47007405-47008669	GM12878	blood:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
32	MXI1	chr16:47007551-47007829	K562	blood:	n/a	n/a
33	IRF1	chr16:47007355-47007900	K562	blood:	n/a	chr16:47007596-47007610
34	JUND	chr16:47006728-47007814	H1-hESC	embryonic stem cell:	n/a	n/a
35	SP1	chr16:47007267-47008033	A549	lung:	n/a	chr16:47007596-47007608 chr16:47007654-47007663 chr16:47007598-47007607 chr16:47007597-47007607 chr16:47007652-47007663 chr16:47007598-47007607 chr16:47007596-47007607 chr16:47007652-47007664 chr16:47007596-47007608 chr16:47007597-47007606 chr16:47007653-47007662 chr16:47007597-47007607 chr16:47007652-47007664
36	POLR2A	chr16:47007304-47007970	GM12892	blood:	n/a	n/a
37	MXI1	chr16:47007416-47007965	Hela-S3	cervix:	n/a	n/a
38	E2F6	chr16:47007350-47008019	H1-hESC	embryonic stem cell:	n/a	chr16:47007654-47007663 chr16:47007361-47007371 chr16:47007597-47007606
39	TAF1	chr16:47006696-47008031	HepG2	liver:	n/a	n/a
40	TCF7L2	chr16:47007694-47007831	PANC-1	pancreas:	n/a	n/a
41	E2F4	chr16:47007599-47007799	GM12878	blood:	n/a	chr16:47007654-47007663
42	POLR2A	chr16:47006263-47008909	GM18505	blood:	n/a	n/a
43	POLR2A	chr16:47006349-47008106	H1-neurons	neurons:	n/a	n/a
44	POLR2A	chr16:47007152-47008096	HUVEC	blood vessel:	n/a	n/a
45	TAL1	chr16:47007446-47007797	K562	blood:	n/a	n/a
46	MAX	chr16:47006133-47008675	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
47	YY1	chr16:47007305-47008056	ECC-1	luminal epithelium:	n/a	chr16:47007668-47007682 chr16:47007552-47007566 chr16:47007597-47007606 chr16:47007352-47007366 chr16:47007739-47007750 chr16:47007355-47007369 chr16:47007908-47007922
48	MAZ	chr16:47006661-47008190	IMR90	lung:	n/a	n/a
49	SPI1	chr16:47007391-47007969	HL-60	blood:	n/a	chr16:47007801-47007808
50	POLR2A	chr16:47007285-47008103	U87	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:47007757-47007807	SAEC	small airway:	n/a
2	chr16:47007740-47007790	SK-N-SH_RA	brain:	n/a
3	chr16:47007757-47007807	Hepatocyte	liver:	n/a
4	chr16:47007740-47007790	GM12878	blood:	n/a
5	chr16:47007740-47007790	Jurkat	blood:	n/a
6	chr16:47007757-47007807	AG04449	skin:	fetal
7	chr16:47007740-47007790	PrEC	prostate:	n/a
8	chr16:47007740-47007790	HIPEpiC	eye:	n/a
9	chr16:47007740-47007790	Hela-S3	cervix:	n/a
10	chr16:47007757-47007807	HEK293	kidney:	embryo
11	chr16:47007740-47007790	AoSMC	blood vessel:	n/a
12	chr16:47007757-47007807	HCM	heart:	n/a
13	chr16:47007740-47007790	NT2-D1	testis:	n/a
14	chr16:47007757-47007807	GM19239	blood:	n/a
15	chr16:47007757-47007807	NHBE	bronchial:	n/a
16	chr16:47007757-47007807	HRE	kidney:	n/a
17	chr16:47007757-47007807	NB4	blood:	n/a
18	chr16:47007740-47007790	HEK293	kidney:	embryo
19	chr16:47007757-47007807	HepG2	liver:	n/a
20	chr16:47007757-47007807	HCPEpiC	choroid plexus:	n/a
21	chr16:47007740-47007790	HUVEC	blood vessel:	n/a
22	chr16:47007757-47007807	AG09309	skin:	n/a
23	chr16:47007740-47007790	MCF-7	breast:	n/a
24	chr16:47007757-47007807	SKMC	muscle:	n/a
25	chr16:47007757-47007807	MCF-7	breast:	n/a
26	chr16:47007740-47007790	H1-hESC	embryonic stem cell:	embryo
27	chr16:47007757-47007807	GM12892	blood:	n/a
28	chr16:47007740-47007790	HEEpiC	esophagus:	n/a
29	chr16:47007757-47007807	IMR90	lung:	fetal
30	chr16:47007757-47007807	SK-N-SH	brain:	n/a
31	chr16:47007757-47007807	A549	lung:	n/a
32	chr16:47007757-47007807	GM12878	blood:	n/a
33	chr16:47007740-47007790	IMR90	lung:	fetal
34	chr16:47007740-47007790	ECC-1	luminal epithelium:	n/a
35	chr16:47007740-47007790	PANC-1	pancreas:	n/a
36	chr16:47007757-47007807	AG04450	lung:	fetal
37	chr16:47007757-47007807	Caco-2	colon:	n/a
38	chr16:47007740-47007790	NHDF-neo	bronchial:	n/a
39	chr16:47007740-47007790	AG09309	skin:	n/a
40	chr16:47007740-47007790	HCPEpiC	choroid plexus:	n/a
41	chr16:47007757-47007807	HCT-116	colon:	n/a
42	chr16:47007757-47007807	RPTEC	kidney:	n/a
43	chr16:47007757-47007807	HIPEpiC	eye:	n/a
44	chr16:47007757-47007807	PFSK-1	brain:	n/a
45	chr16:47007740-47007790	AG04450	lung:	fetal
46	chr16:47007740-47007790	GM12891	blood:	n/a
47	chr16:47007740-47007790	HAEpiC	amniotic membrane:	n/a
48	chr16:47007740-47007790	Caco-2	colon:	n/a
49	chr16:47007757-47007807	BE2_C	brain:	n/a
50	chr16:47007740-47007790	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
2	chr16:47007686..47008500-chr19:41196000..41196982,2	Hela-S3	cervix:
3	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPT2-1	chr16:47007717-47008036	XLOC_011704
2	lnc-GPT2-1	chr16:47007627-47010136	NONHSAT142273

Variant related genes	Relation type
ENSG00000261173	TF binding region
DNAJA2	TF binding region
DNAJA2	CpG island
ENSG00000261173	CpG island
ENSG00000260281	Chromatin interaction
ENSG00000105245	Chromatin interaction
ENSG00000171208	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	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	esv3439120	chr16:47006276-47008824	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr16:47004400-47008600	Active TSS	GM12878-XiMat	blood
2	chr16:47005600-47008000	Active TSS	A549	lung
3	chr16:47005600-47008200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr16:47005800-47008200	Active TSS	H1 Cell Line	embryonic stem cell
5	chr16:47005800-47008400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr16:47006000-47008000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr16:47006000-47008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:47006000-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:47006000-47008200	Active TSS	Fetal Intestine Small	intestine
10	chr16:47006000-47008200	Active TSS	Fetal Thymus	thymus
11	chr16:47006000-47008200	Active TSS	HSMMtube	muscle
12	chr16:47006000-47008400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:47006000-47008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr16:47006000-47008400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:47006000-47008400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr16:47006000-47008400	Active TSS	Right Ventricle	heart
17	chr16:47006200-47007800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:47006200-47007800	Active TSS	Stomach Mucosa	stomach
19	chr16:47006200-47008000	Active TSS	Gastric	stomach
20	chr16:47006200-47008000	Active TSS	Lung	lung
21	chr16:47006200-47008200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr16:47006200-47008200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr16:47006200-47008200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:47006200-47008200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr16:47006200-47008200	Active TSS	Ovary	ovary
26	chr16:47006200-47008400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:47006200-47008400	Active TSS	Fetal Muscle Trunk	muscle
28	chr16:47006200-47008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr16:47006400-47007800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:47006400-47007800	Active TSS	HMEC	breast
31	chr16:47006400-47008000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:47006400-47008000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr16:47006400-47008000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr16:47006400-47008000	Active TSS	Muscle Satellite Cultured Cells	--
35	chr16:47006400-47008000	Active TSS	NHDF-Ad	bronchial
36	chr16:47006400-47008200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr16:47006400-47008200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:47006400-47008200	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr16:47006400-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr16:47006400-47008200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr16:47006400-47008200	Active TSS	Esophagus	oesophagus
42	chr16:47006400-47008200	Active TSS	Fetal Intestine Large	intestine
43	chr16:47006400-47008200	Active TSS	Fetal Kidney	kidney
44	chr16:47006400-47008200	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr16:47006400-47008200	Active TSS	Small Intestine	intestine
46	chr16:47006400-47008200	Active TSS	HSMM	muscle
47	chr16:47006400-47008200	Active TSS	NHLF	lung
48	chr16:47006400-47008400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr16:47006400-47008400	Active TSS	Psoas Muscle	Psoas
50	chr16:47006400-47008600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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