Variant report

Variant	rs8022304
Chromosome Location	chr14:21975781-21975782
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:21975609-21975788	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr14:21975494-21975806	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21959084..21961956-chr14:21974490..21976293,2	K562	blood:
2	chr14:21973675..21975896-chr14:22025670..22027377,2	K562	blood:
3	chr14:21922971..21924665-chr14:21973742..21975845,3	MCF-7	breast:
4	chr14:21974369..21977190-chr14:22017356..22019662,2	MCF-7	breast:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11851628	1.00[AMR][1000 genomes]
rs17106871	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56691236	1.00[AMR][1000 genomes]
rs58119176	1.00[AMR][1000 genomes]
rs73579669	1.00[AMR][1000 genomes]
rs74034929	0.91[AFR][1000 genomes]
rs8016740	1.00[AMR][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

No data

Chromatin state (count:126 , 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	chr14:21955600-21977200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:21964000-21977800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:21967200-21975800	Strong transcription	HepG2	liver
7	chr14:21967200-21977400	Weak transcription	Small Intestine	intestine
8	chr14:21967600-21977400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:21967600-21977400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:21967800-21977200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:21967800-21977400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:21967800-21978600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:21971800-21978000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:21971800-21978000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr14:21971800-21978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:21971800-21978200	Weak transcription	Stomach Mucosa	stomach
17	chr14:21972000-21975800	Weak transcription	Primary T cells from cord blood	blood
18	chr14:21972000-21975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:21972000-21975800	Weak transcription	Fetal Lung	lung
20	chr14:21972000-21975800	Weak transcription	HMEC	breast
21	chr14:21972000-21975800	Weak transcription	NHEK	skin
22	chr14:21972000-21976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:21972000-21976000	Weak transcription	Ovary	ovary
24	chr14:21972000-21976000	Weak transcription	NHLF	lung
25	chr14:21972000-21976200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr14:21972000-21976200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr14:21972000-21977200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:21972000-21977200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr14:21972000-21977200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:21972000-21977200	Weak transcription	Left Ventricle	heart
31	chr14:21972000-21977200	Weak transcription	Psoas Muscle	Psoas
32	chr14:21972000-21977200	Weak transcription	Thymus	Thymus
33	chr14:21972000-21977400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:21972000-21977400	Weak transcription	Brain Germinal Matrix	brain
35	chr14:21972000-21977400	Weak transcription	Brain Hippocampus Middle	brain
36	chr14:21972000-21977400	Weak transcription	Gastric	stomach
37	chr14:21972000-21977400	Weak transcription	Pancreas	Pancrea
38	chr14:21972000-21977400	Weak transcription	Spleen	Spleen
39	chr14:21972000-21977600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:21972000-21977600	Weak transcription	Brain Angular Gyrus	brain
41	chr14:21972000-21977600	Weak transcription	Brain Substantia Nigra	brain
42	chr14:21972000-21977600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr14:21972000-21978000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr14:21972000-21978000	Weak transcription	NHDF-Ad	bronchial
45	chr14:21972000-21978200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr14:21972000-21978200	Weak transcription	Fetal Kidney	kidney
47	chr14:21972000-21978200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:21972000-21978200	Weak transcription	Right Ventricle	heart
49	chr14:21972000-21978400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr14:21972000-21978600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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