Variant report

Variant	rs61665022
Chromosome Location	chr12:120740362-120740363
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:260)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr12:120739851-120740520	MCF-7	breast:	n/a	n/a
2	ELF1	chr12:120739855-120740445	A549	lung:	n/a	n/a
3	CTCF	chr12:120739687-120740496	HCT-116	colon:	n/a	chr12:120740007-120740023 chr12:120740466-120740474
4	STAT1	chr12:120739933-120740440	GM12878	blood:	n/a	n/a
5	POLR2A	chr12:120739872-120740483	HCT-116	colon:	n/a	n/a
6	ZNF143	chr12:120739799-120740521	K562	blood:	n/a	chr12:120740107-120740116 chr12:120740109-120740118 chr12:120740056-120740075 chr12:120740057-120740072 chr12:120740107-120740125 chr12:120740061-120740079
7	UBTF	chr12:120739964-120740391	K562	blood:	n/a	n/a
8	CREB1	chr12:120739933-120740377	K562	blood:	n/a	n/a
9	MYC	chr12:120739879-120740420	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr12:120739810-120740535	SK-N-MC	brain:	n/a	n/a
11	FOXA1	chr12:120739897-120740646	HepG2	liver:	n/a	n/a
12	ELF1	chr12:120739881-120740465	MCF-7	breast:	n/a	n/a
13	FOXA1	chr12:120739869-120740512	HepG2	liver:	n/a	n/a
14	EP300	chr12:120739793-120740592	ECC-1	luminal epithelium:	n/a	n/a
15	STAT5A	chr12:120739928-120740521	GM12878	blood:	n/a	n/a
16	TEAD4	chr12:120739801-120740552	K562	blood:	n/a	chr12:120740381-120740390
17	TBP	chr12:120739855-120740436	K562	blood:	n/a	n/a
18	CEBPB	chr12:120739898-120740433	A549	lung:	n/a	n/a
19	POLR2A	chr12:120740088-120740376	Gliobla	brain:	n/a	n/a
20	RUNX3	chr12:120739784-120740546	GM12878	blood:	n/a	chr12:120740064-120740081
21	SIN3AK20	chr12:120739842-120740566	A549	lung:	n/a	n/a
22	SIX5	chr12:120739475-120740743	A549	lung:	n/a	chr12:120740109-120740118 chr12:120740073-120740082 chr12:120740107-120740116
23	TCF12	chr12:120739633-120740681	A549	lung:	n/a	chr12:120740443-120740452
24	FOSL2	chr12:120739860-120740473	A549	lung:	n/a	n/a
25	FOXA1	chr12:120739970-120740542	ECC-1	luminal epithelium:	n/a	n/a
26	TBL1XR1	chr12:120739862-120740475	K562	blood:	n/a	n/a
27	CREB1	chr12:120739794-120740585	HepG2	liver:	n/a	n/a
28	MAX	chr12:120739928-120740509	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZBTB33	chr12:120739912-120740478	A549	lung:	n/a	n/a
30	TCF7L2	chr12:120739924-120740472	HCT-116	colon:	n/a	n/a
31	RCOR1	chr12:120739876-120740394	K562	blood:	n/a	n/a
32	USF2	chr12:120739968-120740417	Hela-S3	cervix:	n/a	n/a
33	MXI1	chr12:120739941-120740527	Hela-S3	cervix:	n/a	n/a
34	FOSL2	chr12:120739824-120740658	A549	lung:	n/a	n/a
35	ARID3A	chr12:120739839-120740366	K562	blood:	n/a	n/a
36	GATA3	chr12:120739814-120740544	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr12:120739635-120740517	SK-N-SH	brain:	n/a	chr12:120740007-120740023 chr12:120740466-120740474
38	POLR2A	chr12:120739914-120740665	HUVEC	blood vessel:	n/a	n/a
39	USF1	chr12:120739861-120740572	A549	lung:	n/a	n/a
40	RELA	chr12:120739943-120740483	GM19099	blood:	n/a	chr12:120740311-120740320 chr12:120740311-120740320
41	KAP1	chr12:120739931-120740508	HEK293	kidney:	n/a	n/a
42	ETS1	chr12:120739870-120740466	K562	blood:	n/a	chr12:120740067-120740080 chr12:120740105-120740118
43	FOXM1	chr12:120739850-120740513	GM12878	blood:	n/a	n/a
44	MYC	chr12:120739872-120740474	K562	blood:	n/a	n/a
45	GATA3	chr12:120739933-120740665	MCF-7	breast:	n/a	n/a
46	PML	chr12:120739853-120740518	GM12878	blood:	n/a	n/a
47	E2F6	chr12:120739841-120740655	A549	lung:	n/a	n/a
48	ARID3A	chr12:120739782-120740559	HepG2	liver:	n/a	n/a
49	SP1	chr12:120739704-120740574	HCT-116	colon:	n/a	n/a
50	POLR2A	chr12:120740352-120740432	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120740337-120740387	HL-60	blood:	n/a
2	chr12:120740337-120740387	NT2-D1	testis:	n/a
3	chr12:120740337-120740387	SK-N-SH_RA	brain:	n/a
4	chr12:120740337-120740387	HEK293	kidney:	embryo
5	chr12:120740337-120740387	SAEC	small airway:	n/a
6	chr12:120740337-120740387	LNCaP	prostate:	n/a
7	chr12:120740337-120740387	HRPEpiC	eye:	n/a
8	chr12:120740337-120740387	AG04449	skin:	fetal
9	chr12:120740337-120740387	Hepatocyte	liver:	n/a
10	chr12:120740337-120740387	A549	lung:	n/a
11	chr12:120740337-120740387	HCT-116	colon:	n/a
12	chr12:120740337-120740387	HCF	heart:	n/a
13	chr12:120740337-120740387	ProgFib	skin:	n/a
14	chr12:120740337-120740387	PANC-1	pancreas:	n/a
15	chr12:120740337-120740387	AG09309	skin:	n/a
16	chr12:120740337-120740387	Jurkat	blood:	n/a
17	chr12:120740337-120740387	GM12891	blood:	n/a
18	chr12:120740337-120740387	HepG2	liver:	n/a
19	chr12:120740337-120740387	MCF10A-Er-Src	breast:	n/a
20	chr12:120740337-120740387	AoSMC	blood vessel:	n/a
21	chr12:120740337-120740387	HRCEpiC	kidney:	n/a
22	chr12:120740337-120740387	NHBE	bronchial:	n/a
23	chr12:120740337-120740387	GM12892	blood:	n/a
24	chr12:120740337-120740387	K562	blood:	n/a
25	chr12:120740337-120740387	BE2_C	brain:	n/a
26	chr12:120740337-120740387	GM19239	blood:	n/a
27	chr12:120740337-120740387	PFSK-1	brain:	n/a
28	chr12:120740337-120740387	ECC-1	luminal epithelium:	n/a
29	chr12:120740337-120740387	IMR90	lung:	fetal
30	chr12:120740337-120740387	SK-N-SH	brain:	n/a
31	chr12:120740337-120740387	ovcar-3	ovarian:	n/a
32	chr12:120740337-120740387	HAEpiC	amniotic membrane:	n/a
33	chr12:120740337-120740387	Hela-S3	cervix:	n/a
34	chr12:120740337-120740387	BJ	skin:	n/a
35	chr12:120740337-120740387	PrEC	prostate:	n/a
36	chr12:120740337-120740387	Caco-2	colon:	n/a
37	chr12:120740337-120740387	HMEC	breast:	n/a
38	chr12:120740337-120740387	HRE	kidney:	n/a
39	chr12:120740337-120740387	H1-hESC	embryonic stem cell:	embryo
40	chr12:120740337-120740387	NH-A	brain:	n/a
41	chr12:120740337-120740387	HNPCEpiC	eye:	n/a
42	chr12:120740337-120740387	U87	brain:	n/a
43	chr12:120740337-120740387	HEEpiC	esophagus:	n/a
44	chr12:120740337-120740387	NB4	blood:	n/a
45	chr12:120740337-120740387	GM12878	blood:	n/a
46	chr12:120740337-120740387	AG10803	skin:	n/a
47	chr12:120740337-120740387	NHDF-neo	bronchial:	n/a
48	chr12:120740337-120740387	SK-N-MC	brain:	n/a
49	chr12:120740337-120740387	HPAEpiC	pulmonary alveolar:	n/a
50	chr12:120740337-120740387	HCM	heart:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:
2	chr12:120739185..120741546-chr12:120749401..120751491,2	K562	blood:

No data

Variant related genes	Relation type
SIRT4	TF binding region
SIRT4	CpG island
ENSG00000252659	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12299143	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12423303	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12424233	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12424555	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425936	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12426900	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12427069	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427095	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16950044	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16950047	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16950058	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950061	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950065	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16950101	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2238158	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2238161	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2464296	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2522140	0.83[EUR][1000 genomes]
rs2701643	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2905543	0.85[EUR][1000 genomes]
rs3847967	0.86[EUR][1000 genomes]
rs3847968	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3847969	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3898618	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56237802	0.86[ASN][1000 genomes]
rs5634	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56733641	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57141366	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57279831	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57384430	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58232894	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59447311	0.88[EUR][1000 genomes]
rs59768240	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60176939	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60731947	0.88[EUR][1000 genomes]
rs61140476	0.88[EUR][1000 genomes]
rs61592165	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61748115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960401	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977875	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9657936	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657937	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9657941	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657942	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9657948	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61665022	SIRT4	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120739400-120740800	Active TSS	A549	lung
2	chr12:120739400-120741000	Active TSS	K562	blood
3	chr12:120739600-120740600	Active TSS	Placenta	Placenta
4	chr12:120739600-120740800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr12:120739600-120740800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:120739600-120740800	Active TSS	HepG2	liver
7	chr12:120739600-120741000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:120739600-120741000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:120739600-120741000	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:120739800-120740400	Active TSS	Liver	Liver
11	chr12:120739800-120740600	Active TSS	Hela-S3	cervix
12	chr12:120739800-120740800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:120739800-120740800	Active TSS	Fetal Kidney	kidney
14	chr12:120739800-120740800	Active TSS	Right Atrium	heart
15	chr12:120739800-120741000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:120739800-120741000	Active TSS	Brain Anterior Caudate	brain
17	chr12:120739800-120741000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr12:120739800-120741000	Active TSS	Ovary	ovary
19	chr12:120739800-120741000	Active TSS	Psoas Muscle	Psoas
20	chr12:120740000-120740400	Active TSS	Primary B cells from peripheral blood	blood
21	chr12:120740000-120740400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr12:120740000-120740400	Flanking Active TSS	Fetal Thymus	thymus
23	chr12:120740000-120740400	Active TSS	Stomach Mucosa	stomach
24	chr12:120740000-120740400	Active TSS	Spleen	Spleen
25	chr12:120740000-120740600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr12:120740000-120740600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:120740000-120740600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:120740000-120740600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:120740000-120740600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr12:120740000-120740600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:120740000-120740600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:120740000-120740600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:120740000-120740600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr12:120740000-120740600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr12:120740000-120740600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:120740000-120740600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr12:120740000-120740600	Active TSS	Cortex derived primary cultured neurospheres	brain
38	chr12:120740000-120740600	Active TSS	Aorta	Aorta
39	chr12:120740000-120740600	Active TSS	Brain Hippocampus Middle	brain
40	chr12:120740000-120740600	Active TSS	Fetal Brain Male	brain
41	chr12:120740000-120740600	Active TSS	Fetal Muscle Trunk	muscle
42	chr12:120740000-120740600	Active TSS	Fetal Muscle Leg	muscle
43	chr12:120740000-120740600	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr12:120740000-120740600	Active TSS	HSMMtube	muscle
45	chr12:120740000-120740600	Active TSS	NH-A	brain
46	chr12:120740000-120740600	Active TSS	NHDF-Ad	bronchial
47	chr12:120740000-120740800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:120740000-120740800	Active TSS	H1 Cell Line	embryonic stem cell
49	chr12:120740000-120740800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:120740000-120740800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links