Variant report

Variant	rs1023120
Chromosome Location	chr14:56777393-56777394
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1028973	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1152464	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1152466	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152471	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1152477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1152478	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1152479	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.82[MEX][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1152486	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1152488	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1152493	0.94[EUR][1000 genomes]
rs1188689	0.81[EUR][1000 genomes]
rs1188691	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12589933	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1382974	0.84[CHD][hapmap]
rs17091062	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs17091196	0.82[ASN][1000 genomes]
rs2228708	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2297610	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs242581	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs385141	0.87[CHD][hapmap];0.81[JPT][hapmap]
rs6573085	0.89[JPT][hapmap]
rs7141949	0.81[JPT][hapmap]
rs7143560	0.84[CHD][hapmap]
rs7152487	0.84[CHD][hapmap]
rs754314	1.00[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs8014574	0.84[CHD][hapmap];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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56750400-56777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:56764400-56785600	Weak transcription	Lung	lung
3	chr14:56764400-56798200	Weak transcription	Pancreas	Pancrea
4	chr14:56764400-56808800	Weak transcription	Thymus	Thymus
5	chr14:56768600-56784600	Weak transcription	Dnd41	blood
6	chr14:56769800-56780200	Weak transcription	Primary B cells from cord blood	blood
7	chr14:56774400-56806400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:56776000-56777400	Enhancers	Aorta	Aorta
9	chr14:56776000-56780400	Weak transcription	Fetal Brain Female	brain
10	chr14:56776200-56779400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:56776600-56778000	Enhancers	NHLF	lung
12	chr14:56776600-56778200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:56776600-56778600	Enhancers	Primary hematopoietic stem cells	blood
14	chr14:56776800-56777400	Enhancers	Ovary	ovary
15	chr14:56776800-56777400	Enhancers	Right Ventricle	heart
16	chr14:56776800-56777800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:56776800-56778400	Enhancers	HSMMtube	muscle
18	chr14:56777000-56777400	Enhancers	Left Ventricle	heart
19	chr14:56777000-56777600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr14:56777200-56777800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:56777200-56778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:56777200-56778000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr14:56777200-56778000	Flanking Active TSS	NH-A	brain
24	chr14:56777200-56778200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:56777200-56778200	Enhancers	Fetal Heart	heart
26	chr14:56777200-56778200	Enhancers	HUVEC	blood vessel
27	chr14:56777200-56778200	Enhancers	Osteobl	bone
28	chr14:56777200-56778400	Enhancers	HSMM	muscle
29	chr14:56777200-56778400	Enhancers	NHDF-Ad	bronchial

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