Variant report

Variant	rs8004137
Chromosome Location	chr14:81884857-81884858
allele	A/G
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	KAP1	chr14:81884267-81885263	K562	blood:	n/a	n/a
2	CBX3	chr14:81884371-81884937	K562	blood:	n/a	n/a

Variant related genes	Relation type
STON2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10134056	0.86[JPT][hapmap]
rs12435764	0.95[CHB][hapmap]
rs12889439	0.86[ASN][1000 genomes]
rs3742550	0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3844535	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8008602	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8020575	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv510645	chr14:81874624-81907004	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1807931	chr14:81878972-81908605	Bivalent Enhancer Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	esv1842834	chr14:81878972-81908605	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
8	esv1844298	chr14:81878972-81908605	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:81861400-81889400	Weak transcription	Fetal Kidney	kidney
4	chr14:81864400-81893600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:81865000-81885600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:81865000-81889400	Weak transcription	Ovary	ovary
7	chr14:81865000-81892400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:81867600-81892000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:81867800-81889800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:81868800-81893600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:81873600-81886000	Weak transcription	Fetal Muscle Leg	muscle
12	chr14:81874800-81892600	Weak transcription	Hela-S3	cervix
13	chr14:81879400-81885800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:81881000-81886200	Weak transcription	NHEK	skin
15	chr14:81881000-81892000	Weak transcription	HMEC	breast
16	chr14:81881400-81886000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:81881600-81886200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:81881600-81888400	Weak transcription	Psoas Muscle	Psoas
19	chr14:81882600-81886200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:81883000-81886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81883000-81888000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr14:81883000-81893000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81883200-81885800	Weak transcription	Lung	lung
24	chr14:81883400-81888200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr14:81883600-81886000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:81883600-81886800	Weak transcription	Spleen	Spleen
27	chr14:81883600-81888400	Weak transcription	Placenta	Placenta
28	chr14:81883800-81888200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:81884000-81885000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81884000-81885000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:81884000-81888800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:81884200-81885000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr14:81884400-81885800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:81884400-81889000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr14:81884600-81885200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:81884600-81885200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:81884600-81885600	Enhancers	Liver	Liver
38	chr14:81884600-81887200	Strong transcription	K562	blood
39	chr14:81884800-81885000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr14:81884800-81885200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:81884800-81885800	Weak transcription	Primary monocytes fromperipheralblood	blood

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