Variant report

Variant	rs4981372
Chromosome Location	chr14:21927638-21927639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21924719..21926379-chr14:21926397..21928369,2	MCF-7	breast:
2	chr14:21926286..21927863-chr14:21941529..21943943,2	K562	blood:
3	chr14:21926643..21928443-chr14:21945078..21946775,2	K562	blood:
4	chr14:21924456..21927951-chr14:21928618..21932822,6	K562	blood:
5	chr14:21927154..21929240-chr14:21977185..21979577,2	MCF-7	breast:
6	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
7	chr14:21927480..21929708-chr14:21977698..21979335,2	K562	blood:
8	chr14:21924729..21926347-chr14:21926408..21928201,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000129472	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10145520	0.84[AFR][1000 genomes]
rs1045811	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1045812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483252	0.89[MEX][hapmap]
rs1061026	0.90[MEX][hapmap]
rs11845628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12878084	0.88[CHD][hapmap];0.90[MEX][hapmap]
rs12880071	0.88[CHD][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs12884313	0.82[AMR][1000 genomes]
rs17106448	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106830	0.84[MEX][hapmap]
rs33919729	0.82[AMR][1000 genomes]
rs34765612	0.82[AMR][1000 genomes]
rs35446048	0.81[AMR][1000 genomes]
rs35856604	0.84[AMR][1000 genomes]
rs3752411	0.84[MEX][hapmap]
rs3762161	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3790070	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4982449	0.82[AMR][1000 genomes]
rs55886165	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56144428	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56267245	0.83[AFR][1000 genomes]
rs56310285	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57098252	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59617955	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59852035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61973205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973214	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67492181	0.82[AMR][1000 genomes]
rs73581403	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73581408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73581411	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73581416	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73581419	0.85[AMR][1000 genomes];0.85[EUR][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	nsv948957	chr14:21616875-21928338	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4981372	METTL3	cis	lymphoblastoid	seeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21924800-21928400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:21924800-21928400	Weak transcription	Spleen	Spleen
3	chr14:21924800-21928800	Weak transcription	Gastric	stomach
4	chr14:21924800-21929200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:21924800-21929200	Weak transcription	Esophagus	oesophagus
6	chr14:21924800-21929200	Weak transcription	Lung	lung
7	chr14:21924800-21929200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:21924800-21944600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21925000-21927800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:21925000-21927800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr14:21925000-21927800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:21925000-21927800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:21925000-21928000	Weak transcription	Fetal Muscle Leg	muscle
14	chr14:21925000-21928000	Weak transcription	Left Ventricle	heart
15	chr14:21925000-21928000	Weak transcription	HSMMtube	muscle
16	chr14:21925000-21928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:21925000-21928200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:21925000-21928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:21925000-21928800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:21925000-21928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:21925000-21928800	Weak transcription	Aorta	Aorta
22	chr14:21925000-21928800	Weak transcription	NHDF-Ad	bronchial
23	chr14:21925000-21929000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr14:21925000-21929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:21925000-21929000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:21925000-21929000	Weak transcription	Right Ventricle	heart
27	chr14:21925000-21929000	Weak transcription	Osteobl	bone
28	chr14:21925000-21929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:21925000-21929200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:21925000-21929200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:21925000-21929200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:21925000-21929200	Weak transcription	Brain Substantia Nigra	brain
33	chr14:21925000-21929200	Weak transcription	Fetal Brain Female	brain
34	chr14:21925000-21929200	Weak transcription	Fetal Lung	lung
35	chr14:21925000-21929200	Weak transcription	Ovary	ovary
36	chr14:21925000-21929200	Weak transcription	Pancreas	Pancrea
37	chr14:21925000-21929200	Weak transcription	GM12878-XiMat	blood
38	chr14:21925000-21929200	Weak transcription	NHLF	lung
39	chr14:21925000-21929400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr14:21925000-21929400	Weak transcription	Brain Germinal Matrix	brain
41	chr14:21925000-21929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:21925000-21935600	Weak transcription	Fetal Brain Male	brain
43	chr14:21925000-21935800	Weak transcription	Fetal Heart	heart
44	chr14:21925000-21940400	Weak transcription	K562	blood
45	chr14:21925000-21943800	Weak transcription	HMEC	breast
46	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
47	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
49	chr14:21925200-21927800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr14:21925200-21927800	Weak transcription	Fetal Intestine Large	intestine

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