Variant report

Variant	rs8057433
Chromosome Location	chr16:31010485-31010486
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	TEAD4	chr16:31009189-31010903	HepG2	liver:	n/a	n/a
2	POLR2A	chr16:31007570-31010938	HepG2	liver:	n/a	n/a
3	FOXA1	chr16:31010315-31010847	HepG2	liver:	n/a	n/a
4	NFIC	chr16:31010190-31010895	HepG2	liver:	n/a	n/a
5	HEY1	chr16:31007231-31010930	HepG2	liver:	n/a	n/a
6	ZNF263	chr16:31008353-31010832	HEK293-T-REx	kidney:	n/a	n/a
7	SMC3	chr16:31009940-31010775	HepG2	liver:	n/a	chr16:31009984-31009991
8	HNF4A	chr16:31010284-31010832	HepG2	liver:	n/a	chr16:31010561-31010569 chr16:31010617-31010625 chr16:31010653-31010665 chr16:31010615-31010630
9	HNF4G	chr16:31010246-31010842	HepG2	liver:	n/a	chr16:31010561-31010569 chr16:31010617-31010625 chr16:31010653-31010665 chr16:31010555-31010570
10	HEY1	chr16:31010304-31011034	HepG2	liver:	n/a	n/a
11	HDAC2	chr16:31009540-31010814	HepG2	liver:	n/a	chr16:31010143-31010151
12	BHLHE40	chr16:31010372-31010679	HepG2	liver:	n/a	n/a
13	NFIC	chr16:31009984-31010994	HepG2	liver:	n/a	n/a
14	RAD21	chr16:31010364-31010757	HepG2	liver:	n/a	n/a
15	MAZ	chr16:31008159-31010622	IMR90	lung:	n/a	n/a
16	MYBL2	chr16:31009804-31010993	HepG2	liver:	n/a	n/a
17	HNF4A	chr16:31010351-31010857	HepG2	liver:	n/a	chr16:31010561-31010569 chr16:31010617-31010625 chr16:31010653-31010665 chr16:31010615-31010630
18	TBL1XR1	chr16:31010472-31010573	K562	blood:	n/a	n/a
19	SP1	chr16:31010243-31010931	HepG2	liver:	n/a	chr16:31010375-31010385 chr16:31010376-31010385 chr16:31010368-31010382
20	TCF7L2	chr16:31010322-31010721	HepG2	liver:	n/a	n/a
21	TBL1XR1	chr16:31010475-31010545	K562	blood:	n/a	n/a
22	MYBL2	chr16:31008189-31010932	HepG2	liver:	n/a	n/a
23	FOXA1	chr16:31010356-31010739	HepG2	liver:	n/a	n/a
24	MAX	chr16:31010241-31011193	HepG2	liver:	n/a	n/a
25	ESRRA	chr16:31010363-31011063	HepG2	liver:	n/a	chr16:31010654-31010666
26	YY1	chr16:31010318-31010815	HepG2	liver:	n/a	n/a
27	FOXA2	chr16:31010283-31010785	HepG2	liver:	n/a	n/a
28	RCOR1	chr16:31010231-31010800	HepG2	liver:	n/a	n/a
29	ELF1	chr16:31010326-31010687	HepG2	liver:	n/a	n/a
30	EP300	chr16:31010201-31010913	HepG2	liver:	n/a	n/a
31	HNF4A	chr16:31010313-31010829	HepG2	liver:	n/a	chr16:31010561-31010569 chr16:31010617-31010625 chr16:31010653-31010665 chr16:31010615-31010630
32	MAFK	chr16:31010468-31010664	K562	blood:	n/a	n/a
33	RXRA	chr16:31010288-31010865	HepG2	liver:	n/a	chr16:31010657-31010666
34	HNF4G	chr16:31010307-31010879	HepG2	liver:	n/a	chr16:31010561-31010569 chr16:31010617-31010625 chr16:31010653-31010665 chr16:31010555-31010570
35	MBD4	chr16:31010212-31010979	HepG2	liver:	n/a	n/a
36	MXI1	chr16:31010366-31010899	HepG2	liver:	n/a	n/a
37	POLR2A	chr16:31010369-31010877	HepG2	liver:	n/a	n/a
38	TBP	chr16:31010359-31010799	HepG2	liver:	n/a	n/a
39	POLR2A	chr16:31010385-31010896	HepG2	liver:	n/a	n/a
40	EP300	chr16:31010359-31011036	HepG2	liver:	n/a	n/a
41	POLR2A	chr16:31010359-31010855	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:31007508-31010912	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31004363..31015645-chr16:31042809..31047717,18	MCF-7	breast:
2	chr16:31007054..31011428-chr16:31011544..31016044,11	MCF-7	breast:
3	chr16:31007115..31010903-chr16:31041705..31047571,13	MCF-7	breast:
4	chr16:30991043..31010547-chr16:31082350..31088728,42	MCF-7	breast:
5	chr16:31008630..31010759-chr16:31011117..31013438,2	K562	blood:
6	chr16:30960482..30963722-chr16:31009124..31011668,3	K562	blood:
7	chr16:31008766..31010883-chr16:31047833..31050675,2	MCF-7	breast:
8	chr16:31006807..31011358-chr16:31082999..31086095,12	MCF-7	breast:
9	chr16:30968978..30971725-chr16:31006942..31010708,4	K562	blood:
10	chr16:30998679..31000953-chr16:31008665..31011087,2	MCF-7	breast:
11	chr16:31008048..31010924-chr16:31103164..31107386,3	MCF-7	breast:

Variant related genes	Relation type
STX1B	TF binding region
ENSG00000167397	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000099365	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000099381	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000255439	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10153181	1.00[EUR][1000 genomes]
rs11150605	1.00[EUR][1000 genomes]
rs11649138	1.00[EUR][1000 genomes]
rs11860432	1.00[MEX][hapmap]
rs11865829	1.00[EUR][1000 genomes]
rs12931416	1.00[MEX][hapmap]
rs1549300	1.00[EUR][1000 genomes]
rs17878338	1.00[EUR][1000 genomes]
rs17878521	1.00[EUR][1000 genomes]
rs17883591	1.00[EUR][1000 genomes]
rs17886199	1.00[EUR][1000 genomes]
rs2032917	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs4321212	1.00[MEX][hapmap]
rs4435271	1.00[EUR][1000 genomes]
rs4889515	1.00[EUR][1000 genomes]
rs4889529	1.00[EUR][1000 genomes]
rs4889531	1.00[EUR][1000 genomes]
rs4889532	1.00[EUR][1000 genomes]
rs4889533	1.00[EUR][1000 genomes]
rs4889535	1.00[EUR][1000 genomes]
rs4889613	1.00[EUR][1000 genomes]
rs4889615	1.00[EUR][1000 genomes]
rs4889621	1.00[CHD][hapmap]
rs59645185	1.00[EUR][1000 genomes]
rs61745791	1.00[EUR][1000 genomes]
rs61747561	1.00[EUR][1000 genomes]
rs6420450	1.00[EUR][1000 genomes]
rs6565206	1.00[EUR][1000 genomes]
rs6565215	1.00[EUR][1000 genomes]
rs6565218	1.00[EUR][1000 genomes]
rs7184697	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs7194921	1.00[EUR][1000 genomes]
rs7206294	1.00[EUR][1000 genomes]
rs7405418	1.00[EUR][1000 genomes]
rs7499974	1.00[EUR][1000 genomes]
rs8045936	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs8056076	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs889550	1.00[EUR][1000 genomes]
rs889553	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs9924071	1.00[EUR][1000 genomes]
rs9924926	1.00[MEX][hapmap]
rs9925932	1.00[EUR][1000 genomes]
rs9926903	1.00[CHD][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv905737	chr16:30900235-31014179	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
12	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
13	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
14	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30997600-31013600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31009000-31013200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr16:31009000-31013800	Enhancers	Liver	Liver
4	chr16:31009000-31020400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr16:31009200-31010600	Weak transcription	Aorta	Aorta
6	chr16:31009200-31010800	Weak transcription	Colon Smooth Muscle	Colon
7	chr16:31009200-31011000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr16:31009200-31011200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:31009200-31011200	Enhancers	Fetal Intestine Large	intestine
10	chr16:31009200-31011200	Enhancers	Fetal Intestine Small	intestine
11	chr16:31009200-31011200	Enhancers	Placenta Amnion	Placenta Amnion
12	chr16:31009200-31012200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr16:31009200-31013200	Weak transcription	Fetal Heart	heart
14	chr16:31009200-31013200	Weak transcription	Left Ventricle	heart
15	chr16:31009200-31013200	Weak transcription	Right Ventricle	heart
16	chr16:31009200-31013600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr16:31009200-31013600	Weak transcription	Brain Anterior Caudate	brain
18	chr16:31009200-31013600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:31009200-31013800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:31009200-31020400	Weak transcription	Brain Angular Gyrus	brain
21	chr16:31009200-31034400	Weak transcription	Right Atrium	heart
22	chr16:31009400-31010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr16:31009400-31010800	Enhancers	K562	blood
24	chr16:31009400-31011000	Weak transcription	Brain Hippocampus Middle	brain
25	chr16:31009400-31012000	Enhancers	Adipose Nuclei	Adipose
26	chr16:31009400-31015000	Enhancers	Placenta	Placenta
27	chr16:31009400-31020600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr16:31009600-31010600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr16:31009600-31010600	Enhancers	HMEC	breast
30	chr16:31009600-31010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr16:31009600-31010800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr16:31009600-31011000	Enhancers	HSMMtube	muscle
33	chr16:31009600-31011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:31009600-31011200	Enhancers	NHDF-Ad	bronchial
35	chr16:31009600-31013000	Enhancers	NHEK	skin
36	chr16:31009600-31013200	Weak transcription	Pancreas	Pancrea
37	chr16:31009800-31010800	Weak transcription	Ovary	ovary
38	chr16:31009800-31011000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:31009800-31011000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr16:31009800-31011200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:31009800-31011200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr16:31009800-31011200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:31009800-31011600	Weak transcription	Colonic Mucosa	Colon
44	chr16:31009800-31012200	Weak transcription	Esophagus	oesophagus
45	chr16:31009800-31013200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:31009800-31013400	Weak transcription	Fetal Stomach	stomach
47	chr16:31009800-31013800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr16:31009800-31014200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr16:31009800-31021000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:31010000-31010600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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