Variant report

Variant	rs194718
Chromosome Location	chr14:69323126-69323127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10130940	0.85[JPT][hapmap]
rs10136833	0.85[JPT][hapmap]
rs10139706	0.85[JPT][hapmap]
rs10142141	0.85[JPT][hapmap]
rs10147437	0.85[JPT][hapmap]
rs10147838	0.85[JPT][hapmap]
rs10149281	0.85[JPT][hapmap]
rs10151706	0.85[JPT][hapmap]
rs12101054	1.00[JPT][hapmap]
rs12434957	0.85[JPT][hapmap]
rs1274949	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1475034	1.00[CHB][hapmap]
rs17106429	0.83[ASN][1000 genomes]
rs1742501	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2093010	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2273419	1.00[JPT][hapmap]
rs370535	0.83[ASN][1000 genomes]
rs372177	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs372522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs372896	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs743127	1.00[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	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69306400-69331200	Weak transcription	Aorta	Aorta
2	chr14:69307800-69331000	Weak transcription	HSMMtube	muscle
3	chr14:69310800-69331000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:69310800-69332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:69310800-69332200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:69310800-69336400	Weak transcription	NHLF	lung
7	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
8	chr14:69311000-69331000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69312000-69332000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr14:69319800-69326200	Enhancers	Placenta	Placenta
11	chr14:69320000-69331000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:69320600-69323400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:69320800-69332200	Weak transcription	NHEK	skin
15	chr14:69321000-69329800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:69321200-69323400	Strong transcription	HMEC	breast
17	chr14:69321200-69332200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:69321200-69338000	Weak transcription	Gastric	stomach
19	chr14:69321400-69330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:69321600-69323600	Strong transcription	NH-A	brain
21	chr14:69321600-69327400	Weak transcription	Osteobl	bone
22	chr14:69322400-69327800	Weak transcription	HSMM	muscle
23	chr14:69322400-69331000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:69322600-69324400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:69322600-69329600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:69322600-69330800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:69322600-69331200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr14:69323000-69323400	Enhancers	Fetal Stomach	stomach
30	chr14:69323000-69323400	Enhancers	Rectal Smooth Muscle	rectum
31	chr14:69323000-69323600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:69323000-69323600	Enhancers	Colon Smooth Muscle	Colon
33	chr14:69323000-69323800	Enhancers	Stomach Smooth Muscle	stomach
34	chr14:69323000-69325200	Enhancers	Fetal Intestine Large	intestine

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