Variant report

Variant	rs1045811
Chromosome Location	chr14:21928383-21928384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21926643..21928443-chr14:21945078..21946775,2	K562	blood:
2	chr14:21927154..21929240-chr14:21977185..21979577,2	MCF-7	breast:
3	chr14:21927790..21931604-chr14:21933413..21935482,4	K562	blood:
4	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
5	chr14:21927480..21929708-chr14:21977698..21979335,2	K562	blood:

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

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10145520	0.84[AFR][1000 genomes]
rs1045812	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[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];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483252	0.85[MEX][hapmap]
rs1061026	0.90[MEX][hapmap]
rs11845628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[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];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12878084	1.00[CHD][hapmap];0.85[MEX][hapmap]
rs12880071	1.00[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];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17106830	0.85[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	0.80[MEX][hapmap]
rs3762161	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3790070	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs4981372	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]
rs4982449	0.82[AMR][1000 genomes]
rs55886165	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56144428	0.88[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	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57098252	0.97[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61973214	0.95[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:9 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1045811	METTL3	cis	lymphoblastoid	seeQTL
rs1045811	RAB2B	cis	multi-tissue	Pritchard

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	chr14:21925000-21928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:21925000-21928800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr14:21925000-21928800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:21925000-21928800	Weak transcription	Aorta	Aorta
13	chr14:21925000-21928800	Weak transcription	NHDF-Ad	bronchial
14	chr14:21925000-21929000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:21925000-21929000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:21925000-21929000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:21925000-21929000	Weak transcription	Right Ventricle	heart
18	chr14:21925000-21929000	Weak transcription	Osteobl	bone
19	chr14:21925000-21929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr14:21925000-21929200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:21925000-21929200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:21925000-21929200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:21925000-21929200	Weak transcription	Brain Substantia Nigra	brain
24	chr14:21925000-21929200	Weak transcription	Fetal Brain Female	brain
25	chr14:21925000-21929200	Weak transcription	Fetal Lung	lung
26	chr14:21925000-21929200	Weak transcription	Ovary	ovary
27	chr14:21925000-21929200	Weak transcription	Pancreas	Pancrea
28	chr14:21925000-21929200	Weak transcription	GM12878-XiMat	blood
29	chr14:21925000-21929200	Weak transcription	NHLF	lung
30	chr14:21925000-21929400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr14:21925000-21929400	Weak transcription	Brain Germinal Matrix	brain
32	chr14:21925000-21929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr14:21925000-21935600	Weak transcription	Fetal Brain Male	brain
34	chr14:21925000-21935800	Weak transcription	Fetal Heart	heart
35	chr14:21925000-21940400	Weak transcription	K562	blood
36	chr14:21925000-21943800	Weak transcription	HMEC	breast
37	chr14:21925000-21944000	Weak transcription	Stomach Mucosa	stomach
38	chr14:21925000-21944400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:21925000-21944600	Weak transcription	Small Intestine	intestine
40	chr14:21925200-21928400	Weak transcription	Fetal Stomach	stomach
41	chr14:21925200-21928800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:21925200-21928800	Weak transcription	Colonic Mucosa	Colon
43	chr14:21925200-21928800	Weak transcription	Fetal Intestine Small	intestine
44	chr14:21925200-21929000	Weak transcription	Primary T cells from cord blood	blood
45	chr14:21925200-21929000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:21925200-21929000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:21925200-21929000	Weak transcription	Psoas Muscle	Psoas
48	chr14:21925200-21929200	Weak transcription	Brain Anterior Caudate	brain
49	chr14:21925200-21929200	Weak transcription	Fetal Kidney	kidney
50	chr14:21925200-21929200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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