Variant report

Variant	rs8004916
Chromosome Location	chr14:21949163-21949164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21942911..21947036-chr14:21948493..21952401,7	MCF-7	breast:
2	chr14:21948837..21951421-chr14:21953212..21956640,4	MCF-7	breast:
3	chr14:21945001..21948392-chr14:21948946..21951939,4	K562	blood:
4	chr14:21923120..21925863-chr14:21948762..21952189,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100888	Chromatin interaction
ENSG00000129472	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10135215	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060722	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11156994	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1139130	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12431578	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12435421	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1263793	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1263796	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1263799	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1263801	0.80[AMR][1000 genomes]
rs12880402	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12889546	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297093	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28526734	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28608673	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28694613	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737049	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4296176	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7150948	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7617	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs933192	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs966602	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv994931	chr14:21947144-21956367	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8004916	TOX4	Cis_1M	lymphoblastoid	RTeQTL
rs8004916	METTL3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21946000-21960600	Weak transcription	Small Intestine	intestine
2	chr14:21946200-21949200	Weak transcription	Esophagus	oesophagus
3	chr14:21946200-21949200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:21946200-21955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:21946200-21955600	Weak transcription	Gastric	stomach
6	chr14:21946200-21955600	Weak transcription	Left Ventricle	heart
7	chr14:21946200-21955600	Weak transcription	Ovary	ovary
8	chr14:21946200-21955600	Weak transcription	Thymus	Thymus
9	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:21946400-21952000	Weak transcription	Lung	lung
11	chr14:21946400-21952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr14:21946400-21952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:21946400-21955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:21946400-21955600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr14:21946400-21958000	Weak transcription	Pancreas	Pancrea
16	chr14:21946400-21958800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:21946400-21960800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:21946600-21949200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:21946600-21949200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:21946600-21949400	Weak transcription	Brain Anterior Caudate	brain
22	chr14:21946600-21949400	Weak transcription	Fetal Kidney	kidney
23	chr14:21946600-21949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:21946600-21950400	Weak transcription	Primary B cells from cord blood	blood
25	chr14:21946600-21954600	Weak transcription	HSMMtube	muscle
26	chr14:21946600-21954800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr14:21946600-21954800	Weak transcription	K562	blood
28	chr14:21946600-21955000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:21946600-21955000	Weak transcription	Fetal Thymus	thymus
30	chr14:21946600-21955400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:21946600-21955400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:21946600-21955600	Weak transcription	Brain Germinal Matrix	brain
33	chr14:21946600-21955600	Weak transcription	Colonic Mucosa	Colon
34	chr14:21946600-21955600	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:21946600-21955600	Weak transcription	Psoas Muscle	Psoas
36	chr14:21946600-21955600	Weak transcription	Right Ventricle	heart
37	chr14:21946600-21955600	Weak transcription	Spleen	Spleen
38	chr14:21946600-21955800	Weak transcription	Fetal Brain Female	brain
39	chr14:21946600-21958000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr14:21946600-21960400	Weak transcription	Stomach Mucosa	stomach
41	chr14:21946600-21960800	Weak transcription	Aorta	Aorta
42	chr14:21946800-21949400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:21946800-21949400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:21946800-21950200	Weak transcription	NHLF	lung
45	chr14:21946800-21950400	Weak transcription	NHDF-Ad	bronchial
46	chr14:21946800-21954600	Weak transcription	Brain Hippocampus Middle	brain
47	chr14:21946800-21954800	Weak transcription	Osteobl	bone
48	chr14:21946800-21955000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:21946800-21955400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr14:21946800-21955600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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