Variant report

Variant	rs9921752
Chromosome Location	chr16:72159327-72159328
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	USF1	chr16:72159038-72159503	H1-hESC	embryonic stem cell:	n/a	chr16:72159289-72159300
2	HNF4G	chr16:72158821-72159547	HepG2	liver:	n/a	chr16:72159337-72159355 chr16:72159338-72159353 chr16:72159338-72159353 chr16:72159338-72159353
3	YY1	chr16:72159194-72159428	HepG2	liver:	n/a	n/a
4	HNF4A	chr16:72158847-72159452	HepG2	liver:	n/a	chr16:72159337-72159355 chr16:72159338-72159353 chr16:72159338-72159353 chr16:72159338-72159353
5	CHD2	chr16:72159033-72159401	HepG2	liver:	n/a	n/a
6	YY1	chr16:72159193-72159534	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr16:72159152-72159382	K562	blood:	n/a	chr16:72159289-72159300
8	RAD21	chr16:72158508-72159671	SK-N-SH	brain:	n/a	chr16:72158955-72158974 chr16:72158960-72158972 chr16:72158956-72158970 chr16:72158958-72158971
9	ELF1	chr16:72159082-72159487	HepG2	liver:	n/a	n/a
10	USF1	chr16:72159204-72159356	SK-N-SH_RA	brain:	n/a	chr16:72159289-72159300
11	USF1	chr16:72159103-72159475	HepG2	liver:	n/a	chr16:72159289-72159300
12	BHLHE40	chr16:72158808-72159447	K562	blood:	n/a	n/a
13	CTCF	chr16:72158309-72159494	SK-N-SH	brain:	n/a	chr16:72158954-72158972 chr16:72158956-72158977 chr16:72158957-72158970 chr16:72158955-72158971
14	MAX	chr16:72158901-72159515	H1-hESC	embryonic stem cell:	n/a	n/a
15	SMC3	chr16:72158647-72159874	SK-N-SH	brain:	n/a	chr16:72158956-72158970
16	BHLHE40	chr16:72158824-72159504	HepG2	liver:	n/a	n/a
17	RAD21	chr16:72158573-72159359	HCT-116	colon:	n/a	chr16:72158955-72158974 chr16:72158960-72158972 chr16:72158956-72158970 chr16:72158958-72158971
18	RAD21	chr16:72158768-72159392	HepG2	liver:	n/a	chr16:72158955-72158974 chr16:72158960-72158972 chr16:72158956-72158970 chr16:72158958-72158971
19	SMC3	chr16:72158788-72159353	HepG2	liver:	n/a	chr16:72158956-72158970
20	USF2	chr16:72158980-72159388	Hela-S3	cervix:	n/a	chr16:72159289-72159300
21	CTCF	chr16:72158524-72159461	A549	lung:	n/a	chr16:72158954-72158972 chr16:72158956-72158977 chr16:72158957-72158970 chr16:72158955-72158971
22	YY1	chr16:72158812-72159577	HepG2	liver:	n/a	n/a
23	USF2	chr16:72159107-72159509	HepG2	liver:	n/a	chr16:72159289-72159300
24	USF1	chr16:72159103-72159473	HepG2	liver:	n/a	chr16:72159289-72159300
25	BHLHE40	chr16:72159260-72159371	GM12878	blood:	n/a	n/a
26	USF2	chr16:72158863-72159484	H1-hESC	embryonic stem cell:	n/a	chr16:72159289-72159300
27	USF1	chr16:72158914-72159501	H1-hESC	embryonic stem cell:	n/a	chr16:72159289-72159300
28	POLR2A	chr16:72159255-72159511	HepG2	liver:	n/a	n/a
29	GTF2F1	chr16:72158879-72159435	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr16:72159102-72159471	HepG2	liver:	n/a	n/a
31	RAD21	chr16:72158674-72159455	H1-hESC	embryonic stem cell:	n/a	chr16:72158955-72158974 chr16:72158960-72158972 chr16:72158956-72158970 chr16:72158958-72158971

Variant related genes	Relation type
PMFBP1	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1049933	1.00[AMR][1000 genomes]
rs12325171	0.82[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs12325593	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13332560	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13333207	0.85[AMR][1000 genomes]
rs13334681	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs13335854	0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs13338949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16970697	1.00[AMR][1000 genomes]
rs16973619	0.83[YRI][hapmap]
rs16973640	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs16973723	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28455724	0.85[AMR][1000 genomes]
rs28483075	0.85[AMR][1000 genomes]
rs28507713	1.00[AMR][1000 genomes]
rs28557204	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28610193	0.85[AMR][1000 genomes]
rs28639994	1.00[AMR][1000 genomes]
rs35184823	1.00[AMR][1000 genomes]
rs4788614	0.95[YRI][hapmap]
rs56978453	1.00[AMR][1000 genomes]
rs57024912	0.85[AMR][1000 genomes]
rs61074815	1.00[AMR][1000 genomes]
rs7184834	1.00[YRI][hapmap]
rs7186117	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7186448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188150	0.80[LWK][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs7188462	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7189506	0.88[YRI][hapmap];0.85[AMR][1000 genomes]
rs7189654	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7191270	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs7191499	1.00[AMR][1000 genomes]
rs7194569	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202157	0.83[AMR][1000 genomes]
rs7202158	0.83[AMR][1000 genomes]
rs7203195	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73578560	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73582412	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8045316	1.00[MEX][hapmap];0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs8047881	0.95[YRI][hapmap];0.81[AFR][1000 genomes]
rs8051438	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs8052025	1.00[AMR][1000 genomes]
rs8055216	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8056409	0.85[AMR][1000 genomes]
rs8056752	0.95[YRI][hapmap];1.00[AMR][1000 genomes]
rs8057379	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8061292	0.89[YRI][hapmap];0.85[AMR][1000 genomes]
rs8061439	0.85[AMR][1000 genomes]
rs9921052	0.85[AMR][1000 genomes]
rs9923961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9925225	0.83[YRI][hapmap]
rs9925476	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs9925493	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928784	1.00[MEX][hapmap]
rs9932236	1.00[ASW][hapmap];1.00[MEX][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs9933867	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9934521	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940996	1.00[ASW][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9972770	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv534588	chr16:72078262-72287230	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72145800-72160400	Weak transcription	HMEC	breast
2	chr16:72146600-72166600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:72147000-72164800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr16:72147000-72172200	Weak transcription	Dnd41	blood
5	chr16:72147400-72162200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:72147400-72164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:72147600-72165000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:72147800-72159600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr16:72147800-72170000	Weak transcription	Thymus	Thymus
10	chr16:72156200-72160200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:72158200-72159400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr16:72158200-72159600	Enhancers	Spleen	Spleen
13	chr16:72158400-72160200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr16:72158400-72160600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr16:72158400-72160600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr16:72158600-72159400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr16:72158600-72159400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr16:72158600-72159400	Enhancers	Fetal Brain Male	brain
19	chr16:72158600-72159400	Enhancers	Fetal Muscle Leg	muscle
20	chr16:72158600-72159400	Flanking Active TSS	HepG2	liver
21	chr16:72158600-72159600	Enhancers	Primary hematopoietic stem cells	blood
22	chr16:72158600-72159600	Enhancers	Placenta	Placenta
23	chr16:72158600-72159800	Enhancers	Brain Germinal Matrix	brain
24	chr16:72158600-72159800	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:72158600-72159800	Enhancers	GM12878-XiMat	blood
26	chr16:72158600-72160000	Genic enhancers	Fetal Intestine Small	intestine
27	chr16:72158600-72160600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:72158600-72160600	Enhancers	Adipose Nuclei	Adipose
29	chr16:72158600-72160600	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr16:72158800-72159400	Enhancers	Fetal Stomach	stomach
31	chr16:72158800-72159400	Weak transcription	Right Atrium	heart
32	chr16:72158800-72160000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr16:72158800-72160000	Enhancers	Fetal Thymus	thymus
34	chr16:72158800-72160200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:72158800-72160600	Enhancers	Brain Angular Gyrus	brain
36	chr16:72159000-72159400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr16:72159000-72159400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:72159000-72159400	Enhancers	Colonic Mucosa	Colon
39	chr16:72159000-72159400	Enhancers	Fetal Brain Female	brain
40	chr16:72159000-72159400	Enhancers	Fetal Lung	lung
41	chr16:72159000-72159400	Enhancers	HUVEC	blood vessel
42	chr16:72159000-72159600	Enhancers	H1 Cell Line	embryonic stem cell
43	chr16:72159000-72159600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:72159000-72159600	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr16:72159000-72159600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr16:72159000-72159600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr16:72159000-72159600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:72159000-72159600	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr16:72159000-72159800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:72159000-72159800	Enhancers	Liver	Liver

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