Variant report

Variant	rs143068034
Chromosome Location	chr16:47007433-47007434
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	MAX	chr16:47007224-47008192	HCT-116	colon:	n/a	n/a
2	TAF7	chr16:47007264-47007933	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr16:47006529-47007954	HepG2	liver:	n/a	n/a
4	NR2C2	chr16:47007074-47007931	GM12878	blood:	n/a	chr16:47007608-47007621 chr16:47007607-47007622
5	TAF1	chr16:47007278-47007983	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr16:47006279-47008925	GM12878	blood:	n/a	n/a
7	RFX5	chr16:47007420-47007989	HepG2	liver:	n/a	n/a
8	MAX	chr16:47006177-47008159	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
9	POLR2A	chr16:47007387-47008553	HCT-116	colon:	n/a	n/a
10	PML	chr16:47007426-47007838	GM12878	blood:	n/a	n/a
11	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
12	FOXA1	chr16:47006873-47008093	HepG2	liver:	n/a	n/a
13	TAF1	chr16:47007293-47008043	ECC-1	luminal epithelium:	n/a	n/a
14	ELF1	chr16:47007375-47007943	MCF-7	breast:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
15	TEAD4	chr16:47007399-47008085	K562	blood:	n/a	n/a
16	E2F6	chr16:47007350-47008285	A549	lung:	n/a	chr16:47007654-47007663 chr16:47007361-47007371 chr16:47007597-47007606
17	POLR2A	chr16:47006360-47008038	H1-hESC	embryonic stem cell:	n/a	n/a
18	CHD1	chr16:47007397-47008431	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr16:47007281-47008042	SK-N-MC	brain:	n/a	n/a
20	TAF1	chr16:47007331-47007956	PFSK-1	brain:	n/a	n/a
21	TAF1	chr16:47007390-47007811	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr16:47006406-47008908	Raji	blood:	n/a	n/a
23	POLR2A	chr16:47006774-47008042	MCF-7	breast:	n/a	n/a
24	ZBTB7A	chr16:47007430-47007801	K562	blood:	n/a	n/a
25	ELF1	chr16:47007347-47007951	HepG2	liver:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
26	MAX	chr16:47007405-47008669	GM12878	blood:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
27	IRF1	chr16:47007355-47007900	K562	blood:	n/a	chr16:47007596-47007610
28	JUND	chr16:47006728-47007814	H1-hESC	embryonic stem cell:	n/a	n/a
29	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
30	POLR2A	chr16:47007304-47007970	GM12892	blood:	n/a	n/a
31	MXI1	chr16:47007416-47007965	Hela-S3	cervix:	n/a	n/a
32	E2F6	chr16:47007350-47008019	H1-hESC	embryonic stem cell:	n/a	chr16:47007654-47007663 chr16:47007361-47007371 chr16:47007597-47007606
33	TAF1	chr16:47006696-47008031	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:47006263-47008909	GM18505	blood:	n/a	n/a
35	ELF1	chr16:47007397-47007763	K562	blood:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
36	POLR2A	chr16:47006349-47008106	H1-neurons	neurons:	n/a	n/a
37	POLR2A	chr16:47007152-47008096	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr16:47006133-47008675	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
39	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
40	MAZ	chr16:47006661-47008190	IMR90	lung:	n/a	n/a
41	ELF1	chr16:47007333-47007709	K562	blood:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
42	SPI1	chr16:47007391-47007969	HL-60	blood:	n/a	chr16:47007801-47007808
43	POLR2A	chr16:47007285-47008103	U87	brain:	n/a	n/a
44	POLR2A	chr16:47007236-47008000	GM12891	blood:	n/a	n/a
45	PML	chr16:47007335-47008004	K562	blood:	n/a	n/a
46	MAX	chr16:47006955-47008660	A549	lung:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
47	POLR2A	chr16:47007355-47008640	K562	blood:	n/a	n/a
48	ELF1	chr16:47007390-47007999	HepG2	liver:	n/a	chr16:47007649-47007661 chr16:47007595-47007607
49	MAX	chr16:47007274-47008769	HCT-116	colon:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
50	POLR2A	chr16:47006578-47008985	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46864940..46866562-chr16:47005297..47007739,2	K562	blood:
2	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:
3	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
4	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:

Variant related genes	Relation type
ENSG00000261173	TF binding region
DNAJA2	TF binding region
ENSG00000155330	Chromatin interaction
ENSG00000260281	Chromatin interaction
ENSG00000140798	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	chr16:47005600-47007600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:47005600-47008000	Active TSS	A549	lung
4	chr16:47005600-47008200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr16:47005800-47008200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr16:47005800-47008400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:47006000-47008000	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr16:47006000-47008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:47006000-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr16:47006000-47008200	Active TSS	Fetal Intestine Small	intestine
11	chr16:47006000-47008200	Active TSS	Fetal Thymus	thymus
12	chr16:47006000-47008200	Active TSS	HSMMtube	muscle
13	chr16:47006000-47008400	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr16:47006000-47008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr16:47006000-47008400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr16:47006000-47008400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr16:47006000-47008400	Active TSS	Right Ventricle	heart
18	chr16:47006200-47007800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:47006200-47007800	Active TSS	Stomach Mucosa	stomach
20	chr16:47006200-47008000	Active TSS	Gastric	stomach
21	chr16:47006200-47008000	Active TSS	Lung	lung
22	chr16:47006200-47008200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr16:47006200-47008200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:47006200-47008200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr16:47006200-47008200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:47006200-47008200	Active TSS	Ovary	ovary
27	chr16:47006200-47008400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:47006200-47008400	Active TSS	Fetal Muscle Trunk	muscle
29	chr16:47006200-47008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr16:47006400-47007800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:47006400-47007800	Active TSS	HMEC	breast
32	chr16:47006400-47008000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr16:47006400-47008000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:47006400-47008000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr16:47006400-47008000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr16:47006400-47008000	Active TSS	NHDF-Ad	bronchial
37	chr16:47006400-47008200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr16:47006400-47008200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr16:47006400-47008200	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr16:47006400-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr16:47006400-47008200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:47006400-47008200	Active TSS	Esophagus	oesophagus
43	chr16:47006400-47008200	Active TSS	Fetal Intestine Large	intestine
44	chr16:47006400-47008200	Active TSS	Fetal Kidney	kidney
45	chr16:47006400-47008200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr16:47006400-47008200	Active TSS	Small Intestine	intestine
47	chr16:47006400-47008200	Active TSS	HSMM	muscle
48	chr16:47006400-47008200	Active TSS	NHLF	lung
49	chr16:47006400-47008400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr16:47006400-47008400	Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links