Variant report

Variant	rs1188691
Chromosome Location	chr14:56797418-56797419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1023120	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1028973	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152464	1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1152466	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152471	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152477	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1152478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1152479	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152486	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1152488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1152489	0.81[AFR][1000 genomes]
rs1152493	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1188689	0.83[EUR][1000 genomes]
rs12589933	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs2228708	0.83[JPT][hapmap]
rs2297610	0.92[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs242581	0.83[JPT][hapmap]
rs385141	0.81[JPT][hapmap]
rs6573085	0.90[JPT][hapmap]
rs7141949	0.83[JPT][hapmap]
rs7152487	0.83[CHB][hapmap]
rs7161103	0.84[CHB][hapmap]
rs754314	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs8014574	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1044886	chr14:56689682-56834648	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv542104	chr14:56689682-56834648	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv901978	chr14:56740554-56799997	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv901979	chr14:56740554-56802610	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
2	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
3	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:56786800-56798200	Weak transcription	Dnd41	blood
5	chr14:56788400-56800000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:56788400-56800200	Weak transcription	Gastric	stomach
7	chr14:56791800-56798400	Weak transcription	HSMMtube	muscle
8	chr14:56792400-56800000	Weak transcription	HSMM	muscle
9	chr14:56792400-56808400	Weak transcription	Fetal Brain Female	brain
10	chr14:56792600-56798200	Weak transcription	NH-A	brain
11	chr14:56792800-56798400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr14:56793200-56800000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:56793800-56798000	Weak transcription	NHLF	lung
14	chr14:56793800-56798200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:56793800-56798600	Weak transcription	Fetal Lung	lung
16	chr14:56793800-56799800	Weak transcription	NHDF-Ad	bronchial
17	chr14:56793800-56806600	Weak transcription	Aorta	Aorta
18	chr14:56794800-56799600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr14:56795000-56798600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:56795200-56798400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:56795200-56800000	Weak transcription	NHEK	skin
22	chr14:56795400-56800000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:56796800-56800000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:56797000-56798600	Weak transcription	Right Atrium	heart
25	chr14:56797200-56797800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:56797200-56797800	Strong transcription	Ovary	ovary
27	chr14:56797200-56799400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:56797200-56799800	Weak transcription	Fetal Thymus	thymus
29	chr14:56797400-56797600	Enhancers	Lung	lung
30	chr14:56797400-56798600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:56797400-56799600	Weak transcription	Primary monocytes fromperipheralblood	blood

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