Variant report

Variant	rs1263800
Chromosome Location	chr14:21977316-21977317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21977113-21977870	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21976926..21983845-chr14:21991695..21998209,25	K562	blood:
2	chr14:21943182..21946742-chr14:21976824..21981257,10	MCF-7	breast:
3	chr14:21924214..21926252-chr14:21977009..21978995,2	K562	blood:
4	chr14:21977163..21984004-chr14:21985497..21991656,11	K562	blood:
5	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:

No data

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

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1061031	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12435917	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3737050	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571850	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6571851	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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
rs1263800	METTL3	Cis_1M	lymphoblastoid	RTeQTL
rs1263800	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	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:21947000-21978000	Weak transcription	Fetal Heart	heart
3	chr14:21954800-21977400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:21964000-21977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:21967200-21977400	Weak transcription	Small Intestine	intestine
6	chr14:21967600-21977400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:21967600-21977400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:21967800-21977400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:21967800-21978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:21971800-21978000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:21971800-21978000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:21971800-21978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr14:21971800-21978200	Weak transcription	Stomach Mucosa	stomach
14	chr14:21972000-21977400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:21972000-21977400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:21972000-21977400	Weak transcription	Brain Hippocampus Middle	brain
17	chr14:21972000-21977400	Weak transcription	Gastric	stomach
18	chr14:21972000-21977400	Weak transcription	Pancreas	Pancrea
19	chr14:21972000-21977400	Weak transcription	Spleen	Spleen
20	chr14:21972000-21977600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr14:21972000-21977600	Weak transcription	Brain Angular Gyrus	brain
22	chr14:21972000-21977600	Weak transcription	Brain Substantia Nigra	brain
23	chr14:21972000-21977600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:21972000-21978000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:21972000-21978000	Weak transcription	NHDF-Ad	bronchial
26	chr14:21972000-21978200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:21972000-21978200	Weak transcription	Fetal Kidney	kidney
28	chr14:21972000-21978200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:21972000-21978200	Weak transcription	Right Ventricle	heart
30	chr14:21972000-21978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:21972000-21978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:21972000-21978600	Weak transcription	Aorta	Aorta
33	chr14:21972000-21978600	Weak transcription	Esophagus	oesophagus
34	chr14:21972000-21978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:21972200-21977400	Weak transcription	Brain Anterior Caudate	brain
36	chr14:21972200-21977400	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:21972200-21978200	Weak transcription	Colonic Mucosa	Colon
38	chr14:21972400-21977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:21972600-21977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr14:21973200-21977400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:21973400-21977400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:21973400-21977600	Weak transcription	HUVEC	blood vessel
43	chr14:21974200-21977400	Weak transcription	GM12878-XiMat	blood
44	chr14:21974200-21977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:21974600-21977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:21974600-21977600	Strong transcription	Fetal Stomach	stomach
47	chr14:21974800-21977400	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:21974800-21977600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:21974800-21977600	Strong transcription	A549	lung
50	chr14:21974800-21977800	Strong transcription	Fetal Muscle Trunk	muscle

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