Variant report

Variant	rs731389
Chromosome Location	chr14:81916416-81916417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81684227..81690291-chr14:81911956..81927827,27	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON2-1	chr14:81916233-81916501	ENSG00000258675

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11159500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12100504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100962	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12101219	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586522	0.90[JPT][hapmap];1.00[AMR][1000 genomes]
rs12586556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12586611	1.00[AMR][1000 genomes]
rs12586817	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12589111	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12589155	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12589750	1.00[CHD][hapmap];0.90[JPT][hapmap]
rs17111807	1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes]
rs17111815	0.96[CHD][hapmap];0.82[JPT][hapmap]
rs17111817	1.00[CHD][hapmap];0.90[JPT][hapmap]
rs17111825	0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17111839	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111840	1.00[CHB][hapmap];0.96[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17111848	1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17847450	1.00[EUR][1000 genomes]
rs2371601	0.89[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28409508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3813536	1.00[CEU][hapmap]
rs3853422	0.89[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58510940	1.00[EUR][1000 genomes]
rs58975890	0.96[ASN][1000 genomes]
rs731390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81910000-81919000	Weak transcription	K562	blood
2	chr14:81912600-81916800	Enhancers	Psoas Muscle	Psoas
3	chr14:81912600-81917000	Enhancers	NHDF-Ad	bronchial
4	chr14:81914800-81916800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:81914800-81916800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr14:81914800-81917000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr14:81914800-81917000	Enhancers	Placenta	Placenta
8	chr14:81915000-81916800	Enhancers	Brain Cingulate Gyrus	brain
9	chr14:81915000-81916800	Enhancers	Brain Substantia Nigra	brain
10	chr14:81915000-81916800	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr14:81915000-81916800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:81915000-81917400	Enhancers	HepG2	liver
13	chr14:81915200-81917000	Enhancers	Adipose Nuclei	Adipose
14	chr14:81915200-81917000	Enhancers	Fetal Stomach	stomach
15	chr14:81915200-81917400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:81915400-81916600	Enhancers	H9 Cell Line	embryonic stem cell
17	chr14:81915400-81916800	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr14:81915400-81916800	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:81915400-81916800	Enhancers	Pancreas	Pancrea
20	chr14:81915400-81917000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:81915400-81917400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr14:81915600-81916800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81915600-81916800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:81915600-81916800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:81915600-81916800	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr14:81915600-81917000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:81915600-81917000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr14:81915800-81916800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:81915800-81916800	Enhancers	Fetal Brain Male	brain
30	chr14:81915800-81917000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr14:81916000-81916600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:81916000-81916600	Enhancers	Brain Anterior Caudate	brain
33	chr14:81916000-81916800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr14:81916000-81916800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:81916000-81916800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:81916000-81916800	Bivalent Enhancer	Left Ventricle	heart
37	chr14:81916000-81916800	Enhancers	Lung	lung
38	chr14:81916000-81916800	Enhancers	Right Atrium	heart
39	chr14:81916000-81917000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr14:81916000-81917000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:81916000-81917000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:81916000-81917000	Enhancers	Fetal Brain Female	brain
43	chr14:81916000-81917000	Enhancers	Ovary	ovary
44	chr14:81916000-81917200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:81916200-81916600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:81916200-81916600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:81916200-81916600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:81916200-81916600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:81916200-81916600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
50	chr14:81916200-81916600	Enhancers	Spleen	Spleen

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