Variant report

Variant	rs11645598
Chromosome Location	chr16:71460583-71460584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:204)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:204 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF3	chr16:71460187-71460958	K562	blood:	n/a	chr16:71460195-71460204
2	MYBL2	chr16:71460014-71461065	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:71459665-71460666	H1-neurons	neurons:	n/a	n/a
4	TEAD4	chr16:71460212-71460707	K562	blood:	n/a	n/a
5	IRF4	chr16:71460220-71460701	GM12878	blood:	n/a	n/a
6	TAF7	chr16:71459995-71460706	H1-hESC	embryonic stem cell:	n/a	n/a
7	RPC155	chr16:71460164-71461264	K562	blood:	n/a	n/a
8	ELF1	chr16:71460238-71460827	A549	lung:	n/a	n/a
9	ATF2	chr16:71460120-71460737	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYBL2	chr16:71459972-71461312	HepG2	liver:	n/a	n/a
11	ZNF143	chr16:71460065-71460827	H1-hESC	embryonic stem cell:	n/a	chr16:71460193-71460203
12	USF1	chr16:71460233-71460848	A549	lung:	n/a	n/a
13	EP300	chr16:71460053-71460909	HepG2	liver:	n/a	n/a
14	RCOR1	chr16:71460322-71461244	K562	blood:	n/a	n/a
15	MAX	chr16:71459932-71460996	HepG2	liver:	n/a	n/a
16	ELF1	chr16:71460153-71460807	HepG2	liver:	n/a	n/a
17	FOXA2	chr16:71460117-71460875	HepG2	liver:	n/a	n/a
18	FOSL2	chr16:71460201-71460942	A549	lung:	n/a	n/a
19	E2F6	chr16:71459470-71460852	A549	lung:	n/a	chr16:71459875-71459890
20	CBX3	chr16:71460090-71461203	HCT-116	colon:	n/a	n/a
21	HDAC2	chr16:71460353-71460779	K562	blood:	n/a	n/a
22	TCF7L2	chr16:71460197-71460780	HCT-116	colon:	n/a	n/a
23	ZEB1	chr16:71460410-71460811	GM12878	blood:	n/a	n/a
24	CEBPB	chr16:71460222-71460734	A549	lung:	n/a	n/a
25	MAFF	chr16:71460300-71460802	HepG2	liver:	n/a	n/a
26	POLR2A	chr16:71460253-71461045	PANC-1	pancreas:	n/a	n/a
27	MAX	chr16:71459518-71461026	A549	lung:	n/a	chr16:71459575-71459584
28	RFX5	chr16:71460203-71460800	HepG2	liver:	n/a	n/a
29	BCL3	chr16:71460222-71460971	A549	lung:	n/a	n/a
30	FOSL2	chr16:71460159-71461025	A549	lung:	n/a	n/a
31	TBP	chr16:71460093-71461041	HepG2	liver:	n/a	n/a
32	EP300	chr16:71460101-71461036	A549	lung:	n/a	n/a
33	NR2F2	chr16:71460384-71460812	K562	blood:	n/a	n/a
34	SP4	chr16:71460149-71460790	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr16:71460165-71460965	A549	lung:	n/a	n/a
36	MAX	chr16:71459449-71461199	A549	lung:	n/a	chr16:71459575-71459584
37	MAX	chr16:71460552-71460771	K562	blood:	n/a	n/a
38	YY1	chr16:71460212-71460727	A549	lung:	n/a	n/a
39	ZNF143	chr16:71460436-71460742	K562	blood:	n/a	n/a
40	TEAD4	chr16:71460232-71460723	HepG2	liver:	n/a	n/a
41	MTA3	chr16:71460389-71460995	GM12878	blood:	n/a	n/a
42	ZBTB7A	chr16:71460193-71460691	HepG2	liver:	n/a	n/a
43	USF1	chr16:71460210-71460898	A549	lung:	n/a	n/a
44	FOSL2	chr16:71460049-71460963	HepG2	liver:	n/a	n/a
45	JUND	chr16:71460187-71460893	A549	lung:	n/a	chr16:71460755-71460766
46	MAZ	chr16:71460110-71460870	HepG2	liver:	n/a	n/a
47	CHD2	chr16:71460269-71460772	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF3C2	chr16:71460051-71460692	K562	blood:	n/a	n/a
49	EP300	chr16:71460202-71460601	GM12878	blood:	n/a	n/a
50	ZBTB33	chr16:71460208-71460942	A549	lung:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71452691..71455669-chr16:71459394..71461176,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261348	TF binding region
ENSG00000262120	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11641967	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11861513	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs12446005	1.00[CHB][hapmap]
rs17345313	0.82[CHB][hapmap]
rs34680964	1.00[CHB][hapmap]
rs3743950	1.00[LWK][hapmap]
rs7190257	0.82[CHB][hapmap]
rs7205340	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71457000-71461000	Weak transcription	Right Atrium	heart
2	chr16:71459200-71461200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr16:71459400-71460800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr16:71459400-71460800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr16:71459400-71460800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr16:71459400-71461000	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr16:71459600-71460800	Active TSS	A549	lung
8	chr16:71459600-71461000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:71459600-71461000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr16:71459800-71460600	Active TSS	HepG2	liver
11	chr16:71459800-71460800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:71459800-71461000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:71459800-71461000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr16:71459800-71461000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr16:71459800-71461000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr16:71459800-71461400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:71460000-71460600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:71460000-71460600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr16:71460000-71460600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:71460000-71460600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
21	chr16:71460000-71460600	Bivalent/Poised TSS	NHLF	lung
22	chr16:71460000-71460800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:71460000-71460800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr16:71460000-71461000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr16:71460000-71461000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr16:71460000-71461400	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr16:71460200-71460600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:71460200-71460600	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr16:71460200-71460800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:71460200-71460800	Bivalent Enhancer	Placenta	Placenta
31	chr16:71460400-71460600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
32	chr16:71460400-71460600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:71460400-71460600	Bivalent Enhancer	Right Ventricle	heart
34	chr16:71460400-71460600	Active TSS	GM12878-XiMat	blood
35	chr16:71460400-71460800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr16:71460400-71460800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:71460400-71460800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:71460400-71460800	Bivalent/Poised TSS	Fetal Kidney	kidney
39	chr16:71460400-71461000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:71460400-71461200	Enhancers	HMEC	breast
41	chr16:71460400-71461400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr16:71460400-71461400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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