Variant report

Variant	rs8003983
Chromosome Location	chr14:69318632-69318633
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11624611	0.85[EUR][1000 genomes]
rs17757479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17835718	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3861666	0.88[EUR][1000 genomes]
rs61987467	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61987468	0.88[EUR][1000 genomes]
rs61987506	0.85[EUR][1000 genomes]
rs61987507	0.85[EUR][1000 genomes]
rs61987508	0.85[EUR][1000 genomes]
rs61987509	0.85[EUR][1000 genomes]
rs61987510	0.85[EUR][1000 genomes]
rs61987511	0.85[EUR][1000 genomes]
rs8003722	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8011657	0.88[EUR][1000 genomes]
rs8012108	0.88[EUR][1000 genomes]
rs8013969	0.90[EUR][1000 genomes]

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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902071	chr14:69288432-69328594	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv902072	chr14:69288432-69329149	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv902073	chr14:69288432-69331065	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69307800-69320400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
4	chr14:69308400-69320400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:69308600-69320400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr14:69310800-69320400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:69310800-69320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69310800-69321000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:69310800-69321000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:69310800-69321600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:69310800-69331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:69310800-69336400	Weak transcription	NHLF	lung
15	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
16	chr14:69311000-69320600	Weak transcription	HSMM	muscle
17	chr14:69311000-69321000	Weak transcription	Osteobl	bone
18	chr14:69311000-69331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:69311200-69320400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:69311400-69320400	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:69312000-69321200	Weak transcription	HMEC	breast
22	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:69316400-69320400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:69316400-69320400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr14:69317000-69323000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:69317200-69320400	Weak transcription	Pancreas	Pancrea
27	chr14:69317600-69320800	Weak transcription	Fetal Stomach	stomach
28	chr14:69317600-69320800	Weak transcription	HepG2	liver
29	chr14:69318200-69321000	Weak transcription	K562	blood

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