Variant report

Variant	rs67287047
Chromosome Location	chr3:119421712-119421713
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	SP1	chr3:119421184-119422129	H1-hESC	embryonic stem cell:	n/a	chr3:119421531-119421545 chr3:119421549-119421558 chr3:119421539-119421553 chr3:119421544-119421558 chr3:119421548-119421557 chr3:119421543-119421553 chr3:119421543-119421552 chr3:119421542-119421554 chr3:119421549-119421558 chr3:119421544-119421553 chr3:119421655-119421669 chr3:119421547-119421559 chr3:119421542-119421554
2	MAX	chr3:119421532-119422339	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr3:119421610-119421831	A549	lung:	n/a	n/a
4	GTF2F1	chr3:119421588-119421858	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr3:119421635-119422292	A549	lung:	n/a	n/a
6	RUNX3	chr3:119421562-119422102	GM12878	blood:	n/a	n/a
7	MXI1	chr3:119421136-119423363	SK-N-SH	brain:	n/a	n/a
8	MAX	chr3:119421561-119422389	ECC-1	luminal epithelium:	n/a	n/a
9	SIN3AK20	chr3:119421618-119422087	PANC-1	pancreas:	n/a	n/a
10	MYC	chr3:119421454-119422009	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr3:119421343-119422149	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:119421671-119422068	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr3:119421533-119422073	SK-N-SH	brain:	n/a	n/a
14	SP4	chr3:119421579-119422285	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:119421499-119421823	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr3:119421554-119421759	SK-N-SH	brain:	n/a	n/a
17	TCF12	chr3:119421707-119421905	H1-hESC	embryonic stem cell:	n/a	n/a
18	ZNF143	chr3:119421391-119422020	H1-hESC	embryonic stem cell:	n/a	chr3:119421538-119421556
19	USF1	chr3:119421707-119422030	SK-N-SH_RA	brain:	n/a	n/a
20	SPI1	chr3:119421582-119421916	GM12878	blood:	n/a	n/a
21	MAX	chr3:119421544-119422370	A549	lung:	n/a	n/a
22	POLR2A	chr3:119421413-119422002	U87	brain:	n/a	n/a
23	EP300	chr3:119421458-119421973	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr3:119421402-119422053	SK-N-SH	brain:	n/a	n/a
25	MAX	chr3:119421571-119422280	MCF-7	breast:	n/a	n/a
26	SIN3A	chr3:119421460-119422472	H1-hESC	embryonic stem cell:	n/a	chr3:119422198-119422208 chr3:119422137-119422150
27	MAZ	chr3:119421350-119422533	IMR90	lung:	n/a	n/a
28	YY1	chr3:119421509-119422188	H1-hESC	embryonic stem cell:	n/a	n/a
29	E2F6	chr3:119421665-119422408	H1-hESC	embryonic stem cell:	n/a	chr3:119422278-119422285
30	CHD2	chr3:119421455-119422185	H1-hESC	embryonic stem cell:	n/a	chr3:119421549-119421559 chr3:119421542-119421552
31	SP1	chr3:119421482-119422077	A549	lung:	n/a	chr3:119421531-119421545 chr3:119421549-119421558 chr3:119421539-119421553 chr3:119421544-119421558 chr3:119421548-119421557 chr3:119421543-119421553 chr3:119421543-119421552 chr3:119421542-119421554 chr3:119421549-119421558 chr3:119421544-119421553 chr3:119421655-119421669 chr3:119421547-119421559 chr3:119421542-119421554
32	USF2	chr3:119421437-119421749	H1-hESC	embryonic stem cell:	n/a	n/a
33	JUND	chr3:119421579-119421941	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr3:119421589-119422309	H1-hESC	embryonic stem cell:	n/a	n/a
35	RUNX3	chr3:119421683-119422100	GM12878	blood:	n/a	n/a
36	POLR2A	chr3:119421461-119422143	ECC-1	luminal epithelium:	n/a	n/a
37	MAX	chr3:119421605-119422332	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr3:119421475-119422045	H1-hESC	embryonic stem cell:	n/a	chr3:119421539-119421549
39	TCF12	chr3:119421536-119421845	H1-hESC	embryonic stem cell:	n/a	n/a
40	E2F6	chr3:119421652-119422307	H1-hESC	embryonic stem cell:	n/a	chr3:119422278-119422285
41	E2F6	chr3:119421687-119422287	A549	lung:	n/a	chr3:119422278-119422285
42	SP1	chr3:119421545-119422008	GM12878	blood:	n/a	chr3:119421549-119421558 chr3:119421548-119421557 chr3:119421549-119421558 chr3:119421655-119421669 chr3:119421547-119421559
43	RAD21	chr3:119421499-119422057	SK-N-SH_RA	brain:	n/a	chr3:119421539-119421549
44	SPI1	chr3:119421706-119421868	GM12878	blood:	n/a	n/a
45	RELA	chr3:119421346-119421927	GM18951	blood:	n/a	n/a
46	CHD2	chr3:119421447-119422044	GM12878	blood:	n/a	chr3:119421549-119421559 chr3:119421542-119421552
47	TAF1	chr3:119421565-119421828	SK-N-SH	brain:	n/a	n/a
48	TAF1	chr3:119421361-119421796	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr3:119421416-119422113	ECC-1	luminal epithelium:	n/a	n/a
50	NR2F2	chr3:119421412-119422087	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119421667-119421717	NB4	blood:	n/a
2	chr3:119421667-119421717	HRE	kidney:	n/a
3	chr3:119421667-119421717	HNPCEpiC	eye:	n/a
4	chr3:119421667-119421717	AG04449	skin:	fetal
5	chr3:119421667-119421717	GM12892	blood:	n/a
6	chr3:119421667-119421717	T-47D	breast:	n/a
7	chr3:119421667-119421717	NHBE	bronchial:	n/a
8	chr3:119421667-119421717	SK-N-SH	brain:	n/a
9	chr3:119421667-119421717	HPAEpiC	pulmonary alveolar:	n/a
10	chr3:119421667-119421717	HCPEpiC	choroid plexus:	n/a
11	chr3:119421667-119421717	HRPEpiC	eye:	n/a
12	chr3:119421667-119421717	HMEC	breast:	n/a
13	chr3:119421667-119421717	HRCEpiC	kidney:	n/a
14	chr3:119421667-119421717	GM12891	blood:	n/a
15	chr3:119421667-119421717	MCF10A-Er-Src	breast:	n/a
16	chr3:119421667-119421717	SK-N-MC	brain:	n/a
17	chr3:119421667-119421717	AG09309	skin:	n/a
18	chr3:119421667-119421717	HEK293	kidney:	embryo
19	chr3:119421667-119421717	HCF	heart:	n/a
20	chr3:119421667-119421717	A549	lung:	n/a
21	chr3:119421667-119421717	IMR90	lung:	fetal
22	chr3:119421667-119421717	SAEC	small airway:	n/a
23	chr3:119421667-119421717	PFSK-1	brain:	n/a
24	chr3:119421667-119421717	GM06990	blood:	n/a
25	chr3:119421667-119421717	HepG2	liver:	n/a
26	chr3:119421667-119421717	NHDF-neo	bronchial:	n/a
27	chr3:119421667-119421717	MCF-7	breast:	n/a
28	chr3:119421667-119421717	PANC-1	pancreas:	n/a
29	chr3:119421667-119421717	AG04450	lung:	fetal
30	chr3:119421667-119421717	HUVEC	blood vessel:	n/a
31	chr3:119421667-119421717	Jurkat	blood:	n/a
32	chr3:119421667-119421717	GM12878	blood:	n/a
33	chr3:119421667-119421717	SK-N-SH_RA	brain:	n/a
34	chr3:119421667-119421717	HCT-116	colon:	n/a
35	chr3:119421667-119421717	Hepatocyte	liver:	n/a
36	chr3:119421667-119421717	LNCaP	prostate:	n/a
37	chr3:119421667-119421717	CMK	blood:	n/a
38	chr3:119421667-119421717	K562	blood:	n/a
39	chr3:119421667-119421717	HIPEpiC	eye:	n/a
40	chr3:119421667-119421717	HEEpiC	esophagus:	n/a
41	chr3:119421667-119421717	AG09319	gingival:	n/a
42	chr3:119421667-119421717	U87	brain:	n/a
43	chr3:119421667-119421717	AoSMC	blood vessel:	n/a
44	chr3:119421667-119421717	BE2_C	brain:	n/a
45	chr3:119421667-119421717	NT2-D1	testis:	n/a
46	chr3:119421667-119421717	RPTEC	kidney:	n/a
47	chr3:119421667-119421717	PrEC	prostate:	n/a
48	chr3:119421667-119421717	BJ	skin:	n/a
49	chr3:119421667-119421717	Hela-S3	cervix:	n/a
50	chr3:119421667-119421717	NH-A	brain:	n/a

Variant related genes	Relation type
MAATS1	TF binding region
MAATS1	CpG island

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10934496	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11917710	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13082557	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13092631	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34205825	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34605021	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34845376	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35010368	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35012220	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35141348	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35228066	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35403027	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35647314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864899	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35918837	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35931410	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4234664	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444744	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4544652	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4688028	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4688029	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6771837	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6778570	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786722	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6801778	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71325399	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7612861	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7612954	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7613408	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7615769	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7617287	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7617290	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7624404	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7634701	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7644545	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9847068	0.97[ASN][1000 genomes]
rs9848716	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs67287047	MAATS1	cis	Artery Tibial	GTEx
rs67287047	MAATS1	cis	Thyroid	GTEx
rs67287047	MAATS1	cis	Skin Sun Exposed Lower leg	GTEx
rs67287047	MAATS1	cis	Stomach	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119418400-119422200	ZNF genes & repeats	GM12878-XiMat	blood
2	chr3:119421000-119421800	Enhancers	Spleen	Spleen
3	chr3:119421200-119421800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr3:119421200-119421800	Flanking Active TSS	HMEC	breast
5	chr3:119421200-119421800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr3:119421200-119422000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr3:119421200-119422000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:119421200-119422000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:119421200-119422000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:119421200-119422000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:119421200-119422000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr3:119421200-119422000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:119421200-119422000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:119421200-119422000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:119421200-119422000	Active TSS	Aorta	Aorta
16	chr3:119421200-119422000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr3:119421200-119422000	Active TSS	Right Ventricle	heart
18	chr3:119421200-119422200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr3:119421200-119422200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:119421200-119422200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr3:119421200-119422200	Active TSS	Brain Substantia Nigra	brain
22	chr3:119421200-119422200	Active TSS	Rectal Smooth Muscle	rectum
23	chr3:119421200-119422200	Flanking Active TSS	A549	lung
24	chr3:119421200-119422200	Active TSS	NHDF-Ad	bronchial
25	chr3:119421200-119422400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr3:119421200-119422400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:119421200-119422400	Active TSS	Brain Angular Gyrus	brain
28	chr3:119421200-119422400	Active TSS	Colon Smooth Muscle	Colon
29	chr3:119421200-119422400	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr3:119421200-119422600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:119421200-119422600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:119421200-119422600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr3:119421200-119422600	Enhancers	Fetal Heart	heart
34	chr3:119421200-119422600	Active TSS	Fetal Lung	lung
35	chr3:119421200-119422600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr3:119421200-119423200	Active TSS	Brain Anterior Caudate	brain
37	chr3:119421200-119423400	Active TSS	Ovary	ovary
38	chr3:119421400-119421800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:119421400-119421800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr3:119421400-119421800	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
41	chr3:119421400-119421800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:119421400-119421800	Flanking Active TSS	Fetal Brain Male	brain
43	chr3:119421400-119421800	Active TSS	Psoas Muscle	Psoas
44	chr3:119421400-119421800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr3:119421400-119421800	Enhancers	Small Intestine	intestine
46	chr3:119421400-119421800	Flanking Active TSS	Thymus	Thymus
47	chr3:119421400-119422000	Active TSS	H1 Cell Line	embryonic stem cell
48	chr3:119421400-119422000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:119421400-119422000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr3:119421400-119422000	Active TSS	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links