Variant report

Variant	rs242092
Chromosome Location	chr14:69476895-69476896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10132132	0.86[ASN][1000 genomes]
rs10135413	0.83[ASN][1000 genomes]
rs1275193	0.95[ASN][1000 genomes]
rs1275195	0.95[ASN][1000 genomes]
rs173321	0.95[ASN][1000 genomes]
rs181428	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs242103	0.82[ASN][1000 genomes]
rs242105	0.80[ASN][1000 genomes]
rs8023190	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr14:69472800-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
5	chr14:69473000-69477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:69473000-69477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:69473000-69479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:69473000-69479600	Weak transcription	NHLF	lung
9	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
14	chr14:69473200-69477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
17	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69474000-69480400	Weak transcription	HepG2	liver
20	chr14:69474800-69477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:69475600-69479200	Weak transcription	Osteobl	bone
22	chr14:69475600-69480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:69475600-69480600	Weak transcription	Stomach Mucosa	stomach
24	chr14:69475800-69477000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:69475800-69479400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:69475800-69479600	Weak transcription	Fetal Stomach	stomach
27	chr14:69475800-69480400	Weak transcription	Fetal Lung	lung
28	chr14:69475800-69480600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:69475800-69480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:69475800-69481000	Weak transcription	NH-A	brain
31	chr14:69476000-69477200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:69476000-69479000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:69476000-69479200	Weak transcription	Fetal Muscle Leg	muscle
34	chr14:69476000-69479400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:69476000-69480400	Weak transcription	Placenta	Placenta
36	chr14:69476800-69477600	Enhancers	Adipose Nuclei	Adipose
37	chr14:69476800-69477800	Enhancers	A549	lung
38	chr14:69476800-69477800	Enhancers	Hela-S3	cervix

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