Variant report

Variant	rs4296176
Chromosome Location	chr14:21946817-21946818
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:21944743..21947528-chr14:21994092..21996767,2	MCF-7	breast:
2	chr14:21923260..21925455-chr14:21943748..21947334,4	K562	blood:
3	chr14:21922721..21925394-chr14:21943917..21947287,10	MCF-7	breast:
4	chr14:21903666..21907303-chr14:21944223..21946943,4	K562	blood:
5	chr14:21922608..21930261-chr14:21941288..21947915,21	MCF-7	breast:
6	chr14:21943174..21947446-chr14:21976603..21980796,8	K562	blood:
7	chr14:21945641..21947338-chr14:21977414..21979762,2	K562	blood:
8	chr14:21944239..21947571-chr14:21970430..21973821,4	MCF-7	breast:
9	chr14:21941797..21947093-chr14:21954513..21961521,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165821	Chromatin interaction
ENSG00000100888	Chromatin interaction
ENSG00000165819	Chromatin interaction
ENSG00000092203	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10135215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060722	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061031	0.80[ASN][1000 genomes]
rs11156994	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1139130	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12431578	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12435421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263793	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1263796	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1263799	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1263801	0.81[AMR][1000 genomes]
rs12880402	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889546	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2297093	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28526734	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28608673	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28694613	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737049	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3737050	0.80[ASN][1000 genomes]
rs6571850	0.80[ASN][1000 genomes]
rs6571851	0.80[ASN][1000 genomes]
rs7150948	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004916	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs933192	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs966602	0.92[AMR][1000 genomes];0.93[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	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
rs4296176	METTL3	Cis_1M	lymphoblastoid	RTeQTL
rs4296176	TOX4	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21944200-21947000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr14:21944400-21947000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:21945800-21947000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:21946000-21947000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:21946000-21947000	Flanking Active TSS	Dnd41	blood
6	chr14:21946000-21960600	Weak transcription	Small Intestine	intestine
7	chr14:21946200-21947000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:21946200-21947000	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:21946200-21947000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:21946200-21947000	Enhancers	Fetal Lung	lung
11	chr14:21946200-21947000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr14:21946200-21947400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:21946200-21947400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:21946200-21949200	Weak transcription	Esophagus	oesophagus
15	chr14:21946200-21949200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:21946200-21955600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:21946200-21955600	Weak transcription	Gastric	stomach
18	chr14:21946200-21955600	Weak transcription	Left Ventricle	heart
19	chr14:21946200-21955600	Weak transcription	Ovary	ovary
20	chr14:21946200-21955600	Weak transcription	Thymus	Thymus
21	chr14:21946200-21977600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:21946400-21947000	Enhancers	Brain Substantia Nigra	brain
23	chr14:21946400-21947000	Enhancers	Colon Smooth Muscle	Colon
24	chr14:21946400-21947000	Flanking Active TSS	HepG2	liver
25	chr14:21946400-21947200	Enhancers	Primary T cells fromperipheralblood	blood
26	chr14:21946400-21947200	Enhancers	Liver	Liver
27	chr14:21946400-21947400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:21946400-21947400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr14:21946400-21948200	Weak transcription	HSMM	muscle
30	chr14:21946400-21948800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:21946400-21952000	Weak transcription	Lung	lung
32	chr14:21946400-21952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:21946400-21952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:21946400-21955400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:21946400-21955600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:21946400-21958000	Weak transcription	Pancreas	Pancrea
37	chr14:21946400-21958800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:21946400-21960800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:21946400-21971400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:21946600-21947000	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr14:21946600-21947000	Enhancers	Primary hematopoietic stem cells short term culture	blood
42	chr14:21946600-21947000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr14:21946600-21947000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:21946600-21947000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr14:21946600-21947000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:21946600-21947000	Enhancers	Adipose Nuclei	Adipose
47	chr14:21946600-21947000	Enhancers	Brain Cingulate Gyrus	brain
48	chr14:21946600-21947000	Enhancers	Duodenum Mucosa	Duodenum
49	chr14:21946600-21947000	Enhancers	Fetal Heart	heart
50	chr14:21946600-21947000	Active TSS	Fetal Intestine Large	intestine

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