Variant report

Variant	rs719785
Chromosome Location	chr14:21978293-21978294
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21978261-21980520	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA3	chr14:21977990-21978867	SH-SY5Y	brain:	n/a	n/a
3	POLR2A	chr14:21978101-21979889	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:21978186-21978448	MCF10A-Er-Src	breast:	n/a	n/a
5	MXI1	chr14:21977901-21980034	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr14:21978135-21979793	HepG2	liver:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21978010..21981856-chr14:21985023..21989241,7	MCF-7	breast:
3	chr14:21977989..21980901-chr14:22001631..22005636,4	K562	blood:
4	chr14:21851357..21853196-chr14:21978251..21980149,2	K562	blood:
5	chr14:21927480..21929708-chr14:21977698..21979335,2	K562	blood:
6	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
7	chr14:21969916..21972018-chr14:21978032..21980758,3	K562	blood:
8	chr14:21943174..21944974-chr14:21977836..21979361,2	K562	blood:
9	chr14:21924214..21926252-chr14:21977009..21978995,2	K562	blood:
10	chr14:21943699..21946735-chr14:21977733..21982256,4	MCF-7	breast:
11	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
12	chr14:21972318..21975113-chr14:21978008..21980143,3	K562	blood:
13	chr14:21923462..21925701-chr14:21977921..21979566,3	MCF-7	breast:
14	chr14:21977943..21985344-chr14:21985568..21995608,22	MCF-7	breast:
15	chr14:21921735..21926252-chr14:21977495..21980798,4	K562	blood:
16	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
17	chr14:21953304..21957637-chr14:21977622..21980273,4	K562	blood:
18	chr14:21977974..21981747-chr14:21991693..21997000,9	MCF-7	breast:
19	chr14:21958167..21960481-chr14:21978207..21981018,2	MCF-7	breast:

No data

Variant related genes	Relation type
METTL3	TF binding region
ENSG00000257096	Chromatin interaction
ENSG00000165821	Chromatin interaction
ENSG00000092201	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000260830	Chromatin interaction
ENSG00000165819	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10450907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10450908	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1061027	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11850178	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11852218	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13329035	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17516362	0.89[EUR][1000 genomes]
rs17792712	0.82[CEU][hapmap];0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs2282046	0.81[JPT][hapmap]
rs3168880	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762163	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55690316	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58901398	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61973218	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61973219	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61973220	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61973223	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66771279	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	esv3518898	chr14:21805983-22077584	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	esv3518899	chr14:21805983-22077584	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv1054013	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv541991	chr14:21868964-21992109	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv530011	chr14:21876973-21985341	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	esv2422459	chr14:21931624-22169502	Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs719785	METTL3	Cis_1M	lymphoblastoid	RTeQTL
rs719785	TOX4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21967800-21978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:21972000-21978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:21972000-21978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21972000-21978600	Weak transcription	Aorta	Aorta
5	chr14:21972000-21978600	Weak transcription	Esophagus	oesophagus
6	chr14:21972000-21978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:21976400-21978400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:21976400-21978600	Weak transcription	Lung	lung
9	chr14:21977000-21978400	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr14:21977200-21978400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr14:21977400-21978400	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:21977400-21978400	Flanking Active TSS	GM12878-XiMat	blood
13	chr14:21977400-21978600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:21977400-21978600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr14:21977400-21978600	Enhancers	Small Intestine	intestine
16	chr14:21977400-21978800	Enhancers	Spleen	Spleen
17	chr14:21977600-21978400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:21977600-21978400	Enhancers	Primary B cells from peripheral blood	blood
19	chr14:21977600-21978400	Enhancers	Brain Angular Gyrus	brain
20	chr14:21977600-21978400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:21977600-21978400	Enhancers	Fetal Intestine Small	intestine
22	chr14:21977600-21978400	Flanking Active TSS	Hela-S3	cervix
23	chr14:21977600-21978400	Flanking Active TSS	HepG2	liver
24	chr14:21977600-21978600	Weak transcription	Placenta	Placenta
25	chr14:21977600-21978800	Flanking Active TSS	Dnd41	blood
26	chr14:21977600-21979000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:21977600-21979000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:21977800-21978400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:21977800-21978400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr14:21977800-21978400	Enhancers	Fetal Stomach	stomach
31	chr14:21977800-21978400	Weak transcription	Left Ventricle	heart
32	chr14:21977800-21978400	Weak transcription	Ovary	ovary
33	chr14:21977800-21978600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:21977800-21978600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr14:21977800-21978600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr14:21977800-21978600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:21977800-21978600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:21977800-21978600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr14:21977800-21978600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:21977800-21978600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:21977800-21978600	Weak transcription	Gastric	stomach
42	chr14:21977800-21978600	Weak transcription	Pancreas	Pancrea
43	chr14:21977800-21978600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:21977800-21978600	Flanking Active TSS	HUVEC	blood vessel
45	chr14:21977800-21978800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:21977800-21979000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr14:21977800-21980000	Active TSS	K562	blood
48	chr14:21977800-21980200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr14:21977800-21980200	Active TSS	H9 Cell Line	embryonic stem cell
50	chr14:21977800-21980200	Active TSS	HUES48 Cell Line	embryonic stem cell

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